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Gap junction beta-2 protein (Connexin-26) (Cx26)

 CXB2_HUMAN              Reviewed;         226 AA.
P29033; Q508A5; Q508A6; Q5YLL0; Q5YLL1; Q5YLL4; Q6IPV5; Q86U88;
Q96AK0; Q9H536; Q9NNY4;
01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
11-OCT-2005, sequence version 3.
27-SEP-2017, entry version 194.
RecName: Full=Gap junction beta-2 protein;
AltName: Full=Connexin-26;
Short=Cx26;
Name=GJB2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1324944; DOI=10.1083/jcb.118.5.1213;
Lee S.W., Tomasetto C., Paul D., Keyomarsi K., Sager R.;
"Transcriptional downregulation of gap-junction proteins blocks
junctional communication in human mammary tumor cell lines.";
J. Cell Biol. 118:1213-1221(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB1A PRO-79; TRP-143;
ALA-178; LYS-203 AND PRO-214, AND VARIANTS DFNA3A GLN-184 AND SER-197.
TISSUE=Blood;
PubMed=11439000; DOI=10.1002/humu.1156;
Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A.,
Brobby G.W., Horstmann R.D.;
"Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing
impairment in Ghana.";
Hum. Mutat. 18:84-85(2001).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNB1A ILE-37, AND VARIANTS
46-ASP--GLN-48 DELINS GLU; HIS-127; ILE-153; SER-160 AND MET-167.
PubMed=14722929; DOI=10.1002/humu.9216;
Gasmelseed N.M.A., Schmidt M., Magzoub M.M.A., Macharia M.,
Elmustafa O.M., Ototo B., Winkler E., Ruge G., Horstmann R.D.,
Meyer C.G.;
"Low frequency of deafness-associated GJB2 variants in Kenya and Sudan
and novel GJB2 variants.";
Hum. Mutat. 23:206-207(2004).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB1A HIS-32; LYS-80;
ILE-93; GLU-120 DEL; LYS-129; TRP-143 AND PRO-184, AND VARIANTS
ILE-27; GLY-114; HIS-127 AND ILE-153.
PubMed=15666300; DOI=10.1002/ajmg.a.30576;
Najmabadi H., Nishimura C., Kahrizi K., Riazalhosseini Y.,
Malekpour M., Daneshi A., Farhadi M., Mohseni M., Mahdieh N.,
Ebrahimi A., Bazazzadegan N., Naghavi A., Avenarius M., Arzhangi S.,
Smith R.J.H.;
"GJB2 mutations: passage through Iran.";
Am. J. Med. Genet. A 133:132-137(2005).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Joseph A.Y., Rasool T.J.;
"A polymorphism in the genomic sequence of the coding region of
connexin 26 in the South Indian population.";
Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-32.
Joseph A.Y., Rasool T.J.;
"A novel mutation in the connexin 26 gene in the South Indian
population.";
Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057823; DOI=10.1038/nature02379;
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E.,
Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,
Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R.,
Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L.,
Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M.,
King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A.,
Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M.,
Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-27 AND
GLY-114.
TISSUE=Colon;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
INVOLVEMENT IN DFNB1A.
PubMed=15994881; DOI=10.1136/jmg.2004.028324;
del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T.,
Leonardi E., de Oliveira C.A., Azaiez H., Brownstein Z.,
Avenarius M.R., Marlin S., Pandya A., Shahin H., Siemering K.R.,
Weil D., Wuyts W., Aguirre L.A., Martin Y., Moreno-Pelayo M.A.,
Villamar M., Avraham K.B., Dahl H.H., Kanaan M., Nance W.E., Petit C.,
Smith R.J., Van Camp G., Sartorato E.L., Murgia A., Moreno F.,
del Castillo I.;
"A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854),
found in trans with mutations in the GJB2 gene (connexin-26) in
subjects with DFNB1 non-syndromic hearing impairment.";
J. Med. Genet. 42:588-594(2005).
[11]
X-RAY CRYSTALLOGRAPHY (3.5 ANGSTROMS), SUBUNIT, AND DISULFIDE BONDS.
PubMed=19340074; DOI=10.1038/nature07869;
Maeda S., Nakagawa S., Suga M., Yamashita E., Oshima A., Fujiyoshi Y.,
Tsukihara T.;
"Structure of the connexin 26 gap junction channel at 3.5 A
resolution.";
Nature 458:597-602(2009).
[12]
VARIANT THR-34.
PubMed=9139825; DOI=10.1038/387080a0;
Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N.,
Parry G., Mueller R.F., Leigh I.M.;
"Connexin 26 mutations in hereditary non-syndromic sensorineural
deafness.";
Nature 387:80-83(1997).
[13]
SHOWS THAT VARIANT THR-34 IS NOT A CAUSE OF DEAFNESS.
PubMed=9422505; DOI=10.1038/34079;
Scott D.A., Kraft M.L., Tone M.M., Sheffield V.C., Smith R.J.H.;
"Connexin mutations and hearing loss.";
Nature 391:32-32(1998).
[14]
VARIANT DFNB1A ARG-77.
PubMed=9328482; DOI=10.1093/hmg/6.12.2163;
Carrasquillo M.M., Zlotogora J., Barges S., Chakravarti A.;
"Two different connexin 26 mutations in an inbred kindred segregating
non-syndromic recessive deafness: implications for genetic studies in
isolated populations.";
Hum. Mol. Genet. 6:2163-2172(1997).
[15]
VARIANTS DFNB1A GLU-118 DEL AND PRO-184.
PubMed=9336442; DOI=10.1093/hmg/6.12.2173;
Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J.,
Allen-Powell D.R., Osborn A.H., Dahl H.-H.M., Middleton A.,
Houseman M.J., Dode C., Marlin S., Boulila-ElGaied A., Grati M.,
Ayadi H., BenArab S., Bitoun P., Lina-Granade G., Godet J.,
Mustapha M., Loiselet J., El-Zir E., Aubois A., Joannard A.,
Levilliers J., Garabedian E.-N., Mueller R.F., McKinlay Gardner R.J.,
Petit C.;
"Prelingual deafness: high prevalence of a 30delG mutation in the
connexin 26 gene.";
Hum. Mol. Genet. 6:2173-2177(1997).
[16]
VARIANTS DFNB1A LEU-84; MET-95 AND ARG-113, AND VARIANTS ILE-27 AND
ILE-37.
PubMed=9529365; DOI=10.1086/301807;
Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T.,
Smith S.D., Kimberling W.J.;
"Novel mutations in the connexin 26 gene (GJB2) that cause autosomal
recessive (DFNB1) hearing loss.";
Am. J. Hum. Genet. 62:792-799(1998).
[17]
VARIANT PPKDFN TRP-75.
PubMed=9856479; DOI=10.1007/s004390050839;
Richard G., White T.W., Smith L.E., Bailey R.A., Compton J.G.,
Paul D.L., Bale S.J.;
"Functional defects of Cx26 resulting from a heterozygous missense
mutation in a family with dominant deaf-mutism and palmoplantar
keratoderma.";
Hum. Genet. 103:393-399(1998).
[18]
VARIANTS THR-34; LEU-83 AND SER-160.
PubMed=9600457;
DOI=10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8;
Scott D.A., Kraft M.L., Carmi R., Ramesh A., Elbedour K., Yairi Y.,
Srikumari Srisailapathy C.R., Rosengren S.S., Markham A.F.,
Mueller R.F., Lench N.J., van Camp G., Smith R.J.H., Sheffield V.C.;
"Identification of mutations in the connexin 26 gene that cause
autosomal recessive nonsyndromic hearing loss.";
Hum. Mutat. 11:387-394(1998).
[19]
VARIANT DFNA3A CYS-44.
PubMed=9620796; DOI=10.1038/30639;
Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H.,
Levi-Acobas F., Weil D., Petit C.;
"Connexin 26 gene linked to a dominant deafness.";
Nature 393:319-320(1998).
[20]
VARIANT DFNB1A TRP-143.
PubMed=9471561; DOI=10.1056/NEJM199802193380813;
Brobby G.W., Muller-Myhsok B., Horstmann R.D.;
"Connexin 26 R143W mutation associated with recessive nonsyndromic
sensorineural deafness in Africa.";
N. Engl. J. Med. 338:548-550(1998).
[21]
VARIANT VOWNKL HIS-66.
PubMed=10369869; DOI=10.1093/hmg/8.7.1237;
Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiaghi S.,
Scudder P.M., Hovnanian A., Monaco A.P., Munro C.S.;
"A missense mutation in connexin26, D66H, causes mutilating
keratoderma with sensorineural deafness (Vohwinkel's syndrome) in
three unrelated families.";
Hum. Mol. Genet. 8:1237-1243(1999).
[22]
VARIANTS ILE-27; ILE-37; GLY-114 AND THR-203.
PubMed=10607953;
DOI=10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2-G;
Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T., Watanabe K.,
Kawase T., Narisawa K., Takasaka T.;
"Novel mutations in the connexin 26 gene (GJB2) responsible for
childhood deafness in the Japanese population.";
Am. J. Med. Genet. 90:141-145(2000).
[23]
VARIANT PPKDFN HIS-66.
PubMed=10757647; DOI=10.1038/sj.ejhg.5200407;
Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S.,
Leigh I.M.;
"Connexin mutations associated with palmoplantar keratoderma and
profound deafness in a single family.";
Eur. J. Hum. Genet. 8:141-144(2000).
[24]
VARIANTS DFNB1A ILE-37; PRO-90 AND TRP-184.
PubMed=10830906; DOI=10.1007/s004390000273;
Wilcox S.A., Saunders K., Osborn A.H., Arnold A., Wunderlich J.,
Kelly T., Collins V., Wilcox L.J., McKinlay Gardner R.J.,
Kamarinos M., Cone-Wesson B., Williamson R., Dahl H.-H.M.;
"High frequency hearing loss correlated with mutations in the GJB2
gene.";
Hum. Genet. 106:399-405(2000).
[25]
VARIANT PPKDFN ALA-59.
PubMed=10633135; DOI=10.1136/jmg.37.1.50;
Heathcote K., Syrris P., Carter N.D., Patton M.A.;
"A connexin 26 mutation causes a syndrome of sensorineural hearing
loss and palmoplantar hyperkeratosis (MIM 148350).";
J. Med. Genet. 37:50-51(2000).
[26]
VARIANT DFNA3A PHE-202.
PubMed=10807696; DOI=10.1136/jmg.37.5.368;
Morle L., Bozon M., Alloisio N., Latour P., Vandenberghe A.,
Plauchu H., Collet L., Edery P., Godet J., Lina-Granade G.;
"A novel C202F mutation in the connexin26 gene (GJB2) associated with
autosomal dominant isolated hearing loss.";
J. Med. Genet. 37:368-370(2000).
[27]
VARIANT DFNB1A PRO-90, AND VARIANT DFNA3A GLN-143.
PubMed=11313763; DOI=10.1038/sj.ejhg.5200607;
Loffler J., Nekahm D., Hirst-Stadlmann A., Gunther B., Menzel H.J.,
Utermann G., Janecke A.R.;
"Sensorineural hearing loss and the incidence of Cx26 mutations in
Austria.";
Eur. J. Hum. Genet. 9:226-230(2001).
[28]
VARIANTS KID SYNDROME ARG-12; PHE-17 AND ASN-50.
PubMed=11912510; DOI=10.1086/339986;
Richard G., Rouan F., Willoughby C.E., Brown N., Chung P.,
Ryynanen M., Jabs E.W., Bale S.J., DiGiovanna J.J., Uitto J.,
Russell L.;
"Missense mutations in GJB2 encoding connexin-26 cause the ectodermal
dysplasia keratitis-ichthyosis-deafness syndrome.";
Am. J. Hum. Genet. 70:1341-1348(2002).
[29]
VARIANT DFNB1A VAL-159.
PubMed=12239718; DOI=10.1002/ajmg.10621;
Gualandi F., Ravani A., Berto A., Sensi A., Trabanelli C.,
Falciano F., Trevisi P., Mazzoli M., Tibiletti M.G., Cristofari E.,
Burdo S., Ferlini A., Martini A., Calzolari E.;
"Exploring the clinical and epidemiological complexity of GJB2-linked
deafness.";
Am. J. Med. Genet. 112:38-45(2002).
[30]
VARIANT HID SYNDROME ASN-50.
PubMed=12072059; DOI=10.1046/j.1365-2133.2002.04893.x;
van Geel M., van Steensel M.A.M., Kuester W., Hennies H.C., Happle R.,
Steijlen P.M., Koenig A.;
"HID and KID syndromes are associated with the same connexin 26
mutation.";
Br. J. Dermatol. 146:938-942(2002).
[31]
VARIANT DFNB1A ILE-37.
PubMed=12121355; DOI=10.1034/j.1399-0004.2002.610611.x;
Bason L., Dudley T., Lewis K., Shah U., Potsic W., Ferraris A.,
Fortina P., Rappaport E., Krantz I.D.;
"Homozygosity for the V37I Connexin 26 mutation in three unrelated
children with sensorineural hearing loss.";
Clin. Genet. 61:459-464(2002).
[32]
VARIANT PPKDFN GLN-75.
PubMed=12372058; DOI=10.1034/j.1399-0004.2002.620409.x;
Uyguner O., Tukel T., Baykal C., Eris H., Emiroglu M., Hafiz G.,
Ghanbari A., Baserer N., Yuksel-Apak M., Wollnik B.;
"The novel R75Q mutation in the GJB2 gene causes autosomal dominant
hearing loss and palmoplantar keratoderma in a Turkish family.";
Clin. Genet. 62:306-309(2002).
[33]
VARIANT KID SYNDROME ASN-50.
PubMed=12548749; DOI=10.1002/ajmg.a.10851;
Alvarez A., Del Castillo I., Pera A., Villamar M., Moreno-Pelayo M.A.,
Moreno F., Moreno R., Tapia M.C.;
"De novo mutation in the gene encoding connexin-26 (GJB2) in a
sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.";
Am. J. Med. Genet. A 117:89-91(2003).
[34]
VARIANTS KID SYNDROME ASN-50 AND TYR-50.
PubMed=12752120; DOI=10.1046/j.1365-2133.2003.05245.x;
Yotsumoto S., Hashiguchi T., Chen X., Ohtake N., Tomitaka A.,
Akamatsu H., Matsunaga K., Shiraishi S., Miura H., Adachi J.,
Kanzaki T.;
"Novel mutations in GJB2 encoding connexin-26 in Japanese patients
with keratitis-ichthyosis-deafness syndrome.";
Br. J. Dermatol. 148:649-653(2003).
[35]
VARIANT DFNA3A ASN-179, AND VARIANT DFNB1A ILE-37.
PubMed=12786758; DOI=10.1034/j.1399-0004.2003.00079.x;
Primignani P., Castorina P., Sironi F., Curcio C., Ambrosetti U.,
Coviello D.A.;
"A novel dominant missense mutation -- D179N -- in the GJB2 gene
(connexin 26) associated with non-syndromic hearing loss.";
Clin. Genet. 63:516-521(2003).
[36]
VARIANTS DEAFNESS GLU-45; THR-71; ARG-86 AND TRP-143, AND VARIANTS
ILE-27; ILE-37; GLY-114; ASN-123; LEU-191 AND THR-203.
PubMed=12560944; DOI=10.1007/s00439-002-0889-x;
Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S., Van Laer L.,
Van Camp G., Usami S.;
"GJB2 deafness gene shows a specific spectrum of mutations in Japan,
including a frequent founder mutation.";
Hum. Genet. 112:329-333(2003).
[37]
CHARACTERIZATION OF VARIANTS DFNA3A SER-44 AND TRP-75,
CHARACTERIZATION OF VARIANT PPKDFN ALA-59, AND CHARACTERIZATION OF
VARIANT VOWNKL HIS-66.
PubMed=12668604; DOI=10.1093/hmg/ddg076;
Marziano N.K., Casalotti S.O., Portelli A.E., Becker D.L., Forge A.;
"Mutations in the gene for connexin 26 (GJB2) that cause hearing loss
have a dominant negative effect on connexin 30.";
Hum. Mol. Genet. 12:805-812(2003).
[38]
VARIANTS ILE-27; THR-111; GLY-114; HIS-127; ILE-153 AND TRP-165.
PubMed=12746422; DOI=10.1136/jmg.40.5.e68;
Ramshankar M., Girirajan S., Dagan O., Ravi Shankar H.M., Jalvi R.,
Rangasayee R., Avraham K.B., Anand A.;
"Contribution of connexin26 (GJB2) mutations and founder effect to
non-syndromic hearing loss in India.";
J. Med. Genet. 40:E68-E68(2003).
[39]
NON-PATHOGENIC ROLE OF VARIANT THR-34.
PubMed=14694360; DOI=10.1038/sj.ejhg.5201147;
Feldmann D., Denoyelle F., Loundon N., Weil D., Garabedian E.N.,
Couderc R., Joannard A., Schmerber S., Delobel B., Leman J.,
Journel H., Catros H., Ferrec C., Drouin-Garraud V., Obstoy M.F.,
Moati L., Petit C., Marlin S.;
"Clinical evidence of the nonpathogenic nature of the M34T variant in
the connexin 26 gene.";
Eur. J. Hum. Genet. 12:279-284(2004).
[40]
VARIANT BPS LYS-54.
PubMed=15482471; DOI=10.1111/j.0022-202X.2004.23470.x;
Richard G., Brown N., Ishida-Yamamoto A., Krol A.;
"Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey
syndrome is caused by a novel missense mutation in GJB2.";
J. Invest. Dermatol. 123:856-863(2004).
[41]
VARIANT BPS SER-59.
PubMed=15952212; DOI=10.1002/ajmg.a.30822;
Alexandrino F., Sartorato E.L., Marques-de-Faria A.P., Steiner C.E.;
"G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-
Pumphrey syndrome.";
Am. J. Med. Genet. A 136:282-284(2005).
[42]
VARIANT PPKDFN GLN-75, AND CHARACTERIZATION OF VARIANT PPKDFN GLN-75.
PubMed=15996214; DOI=10.1111/j.1399-0004.2005.00468.x;
Piazza V., Beltramello M., Menniti M., Colao E., Malatesta P.,
Argento R., Chiarella G., Gallo L.V., Catalano M., Perrotti N.,
Mammano F., Cassandro E.;
"Functional analysis of R75Q mutation in the gene coding for Connexin
26 identified in a family with nonsyndromic hearing loss.";
Clin. Genet. 68:161-166(2005).
[43]
VARIANT VOWNKL VAL-130, AND VARIANTS HIS-117; PHE-142 DEL AND PRO-148.
PubMed=15954104; DOI=10.1002/humu.9350;
Snoeckx R.L., Hassan D.M., Kamal N.M., Van Den Bogaert K.,
Van Camp G.;
"Mutation analysis of the GJB2 (connexin 26) gene in Egypt.";
Hum. Mutat. 26:60-61(2005).
[44]
CHARACTERIZATION OF VARIANT DFNB1A LEU-84.
PubMed=15592461; DOI=10.1038/ncb1205;
Beltramello M., Piazza V., Bukauskas F.F., Pozzan T., Mammano F.;
"Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies
recessive hereditary deafness.";
Nat. Cell Biol. 7:63-69(2005).
[45]
CHARACTERIZATION OF VARIANT THR-34, AND PATHOGENIC ROLE OF VARIANT
THR-34.
PubMed=16849369; DOI=10.1093/hmg/ddl184;
Bicego M., Beltramello M., Melchionda S., Carella M., Piazza V.,
Zelante L., Bukauskas F.F., Arslan E., Cama E., Pantano S.,
Bruzzone R., D'Andrea P., Mammano F.;
"Pathogenetic role of the deafness-related M34T mutation of Cx26.";
Hum. Mol. Genet. 15:2569-2587(2006).
[46]
POSSIBLE PATHOGENICITY OF VARIANTS THR-34 AND ILE-37.
PubMed=17935238; DOI=10.1002/ajmg.a.31982;
Pollak A., Skorka A., Mueller-Malesinska M., Kostrzewa G., Kisiel B.,
Waligora J., Krajewski P., Oldak M., Korniszewski L., Skarzynski H.,
Ploski R.;
"M34T and V37I mutations in GJB2 associated hearing impairment:
evidence for pathogenicity and reduced penetrance.";
Am. J. Med. Genet. A 143:2534-2543(2007).
[47]
VARIANT DFNB1A ASP-130.
PubMed=17666888; DOI=10.1097/GIM.0b013e3180a03276;
Putcha G.V., Bejjani B.A., Bleoo S., Booker J.K., Carey J.C.,
Carson N., Das S., Dempsey M.A., Gastier-Foster J.M.,
Greinwald J.H. Jr., Hoffmann M.L., Jeng L.J., Kenna M.A., Khababa I.,
Lilley M., Mao R., Muralidharan K., Otani I.M., Rehm H.L.,
Schaefer F., Seltzer W.K., Spector E.B., Springer M.A., Weck K.E.,
Wenstrup R.J., Withrow S., Wu B.L., Zariwala M.A., Schrijver I.;
"A multicenter study of the frequency and distribution of GJB2 and
GJB6 mutations in a large North American cohort.";
Genet. Med. 9:413-426(2007).
[48]
VARIANT DFNB1A MET-84, AND CHARACTERIZATION OF VARIANT DFNB1A MET-84.
PubMed=17660464; DOI=10.1136/jmg.2007.050682;
Matos T.D., Caria H., Simoes-Teixeira H., Aasen T., Nickel R.,
Jagger D.J., O'Neill A., Kelsell D.P., Fialho G.;
"A novel hearing-loss-related mutation occurring in the GJB2 basal
promoter.";
J. Med. Genet. 44:721-725(2007).
[49]
VARIANT PPKDFN ARG-73, AND CHARACTERIZATION OF VARIANT PPKDFN ARG-73.
PubMed=17993581; DOI=10.1136/jmg.2007.052332;
de Zwart-Storm E.A., Hamm H., Stoevesandt J., Steijlen P.M.,
Martin P.E., van Geel M., van Steensel M.A.M.;
"A novel missense mutation in GJB2 disturbs gap junction protein
transport and causes focal palmoplantar keratoderma with deafness.";
J. Med. Genet. 45:161-166(2008).
[50]
VARIANT ARG-168.
PubMed=19283857; DOI=10.1002/ajmg.a.32765;
Alexandrino F., de Oliveira C.A., Magalhaes R.F., Florence M.E.,
de Souza E.M., Sartorato E.L.;
"Connexin mutations in Brazilian patients with skin disorders with or
without hearing loss.";
Am. J. Med. Genet. A 149:681-684(2009).
[51]
VARIANT VOWNKL VAL-130.
PubMed=18688874; DOI=10.1002/ajmg.a.32462;
Iossa S., Chinetti V., Auletta G., Laria C., De Luca M., Rienzo M.,
Giannini P., Delfino M., Ciccodicola A., Marciano E., Franze A.;
"New evidence for the correlation of the p.G130V mutation in the GJB2
gene and syndromic hearing loss with palmoplantar keratoderma.";
Am. J. Med. Genet. A 149:685-688(2009).
[52]
VARIANT ILE-27.
PubMed=19416251; DOI=10.1111/j.1365-2133.2009.09137.x;
Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K.,
Shimizu H.;
"Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies
palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing
loss.";
Br. J. Dermatol. 161:452-455(2009).
[53]
VARIANT DFNA3A GLU-46, VARIANT DFNB1A ARG-86, CHARACTERIZATION OF
VARIANT DFNA3A GLU-46, AND CHARACTERIZATION OF VARIANT DFNB1A ARG-86.
PubMed=19384972; DOI=10.1002/humu.21036;
Choi S.-Y., Park H.-J., Lee K.Y., Dinh E.H., Chang Q., Ahmad S.,
Lee S.H., Bok J., Lin X., Kim U.-K.;
"Different functional consequences of two missense mutations in the
GJB2 gene associated with non-syndromic hearing loss.";
Hum. Mutat. 30:E716-E727(2009).
[54]
VARIANTS DFNB1A ILE-37 AND ALA-130.
PubMed=23680645; DOI=10.1016/j.gene.2013.04.078;
Riahi Z., Hammami H., Ouragini H., Messai H., Zainine R.,
Bouyacoub Y., Romdhane L., Essaid D., Kefi R., Rhimi M., Bedoui M.,
Dhaouadi A., Feldmann D., Jonard L., Besbes G., Abdelhak S.;
"Update of the spectrum of GJB2 gene mutations in Tunisian families
with autosomal recessive nonsyndromic hearing loss.";
Gene 525:1-4(2013).
-!- FUNCTION: One gap junction consists of a cluster of closely packed
pairs of transmembrane channels, the connexons, through which
materials of low MW diffuse from one cell to a neighboring cell.
-!- SUBUNIT: A connexon is composed of a hexamer of connexins.
Interacts with CNST (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
Cell junction, gap junction.
-!- DISEASE: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]:
A form of non-syndromic sensorineural hearing loss. Sensorineural
deafness results from damage to the neural receptors of the inner
ear, the nerve pathways to the brain, or the area of the brain
that receives sound information. {ECO:0000269|PubMed:10830906,
ECO:0000269|PubMed:11313763, ECO:0000269|PubMed:11439000,
ECO:0000269|PubMed:12121355, ECO:0000269|PubMed:12239718,
ECO:0000269|PubMed:12786758, ECO:0000269|PubMed:14722929,
ECO:0000269|PubMed:15592461, ECO:0000269|PubMed:15666300,
ECO:0000269|PubMed:15994881, ECO:0000269|PubMed:17660464,
ECO:0000269|PubMed:17666888, ECO:0000269|PubMed:19384972,
ECO:0000269|PubMed:23680645, ECO:0000269|PubMed:9328482,
ECO:0000269|PubMed:9336442, ECO:0000269|PubMed:9471561,
ECO:0000269|PubMed:9529365}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]: A
form of non-syndromic sensorineural hearing loss. Sensorineural
deafness results from damage to the neural receptors of the inner
ear, the nerve pathways to the brain, or the area of the brain
that receives sound information. {ECO:0000269|PubMed:10807696,
ECO:0000269|PubMed:11313763, ECO:0000269|PubMed:11439000,
ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:12786758,
ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:9620796}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Vohwinkel syndrome (VOWNKL) [MIM:124500]: An autosomal
dominant disease characterized by hyperkeratosis, constriction on
fingers and toes and congenital deafness.
{ECO:0000269|PubMed:10369869, ECO:0000269|PubMed:12668604,
ECO:0000269|PubMed:15954104, ECO:0000269|PubMed:18688874}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Keratoderma, palmoplantar, with deafness (PPKDFN)
[MIM:148350]: An autosomal dominant disorder characterized by the
association of palmoplantar hyperkeratosis with progressive,
bilateral, high-frequency, sensorineural deafness.
{ECO:0000269|PubMed:10633135, ECO:0000269|PubMed:10757647,
ECO:0000269|PubMed:12372058, ECO:0000269|PubMed:12668604,
ECO:0000269|PubMed:15996214, ECO:0000269|PubMed:17993581,
ECO:0000269|PubMed:9856479}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Keratitis-ichthyosis-deafness syndrome (KID syndrome)
[MIM:148210]: An autosomal dominant form of ectodermal dysplasia.
Ectodermal dysplasia defines a heterogeneous group of disorders
due to abnormal development of two or more ectodermal structures.
Keratitis-ichthyosis-deafness syndrome is characterized by the
association of hyperkeratotic skin lesions with vascularizing
keratitis and profound sensorineural hearing loss. Clinical
features include deafness, ichthyosis, photophobia, absent or
decreased eyebrows, sparse or absent scalp hair, decreased
sweating and dysplastic finger and toenails.
{ECO:0000269|PubMed:11912510, ECO:0000269|PubMed:12548749,
ECO:0000269|PubMed:12752120}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Bart-Pumphrey syndrome (BPS) [MIM:149200]: An autosomal
dominant disorder characterized by sensorineural hearing loss,
palmoplantar keratoderma, knuckle pads, and leukonychia, It shows
considerable phenotypic variability. {ECO:0000269|PubMed:15482471,
ECO:0000269|PubMed:15952212}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Ichthyosis hystrix-like with deafness syndrome (HID
syndrome) [MIM:602540]: An autosomal dominant keratinizing
disorder characterized by sensorineural deafness and spiky
hyperkeratosis affecting the entire skin. HID syndrome is
considered to differ from the similar KID syndrome in the extent
and time of occurrence of skin symptoms and the severity of the
associated keratitis. {ECO:0000269|PubMed:12072059}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
subfamily. {ECO:0000305}.
-!- CAUTION: The Thr-34 allele was originally thought to be a cause of
autosomal dominant and recessive deafness (DFNA3 and DFNB1)
(PubMed:9139825). However, Thr-34 effect on hearing is
controversial. Some studies supports its pathogenic role
(PubMed:17935238 and PubMed:16849369). Others provide evidence of
the non-pathogenic nature of this variant (PubMed:9422505 and
PubMed:14694360). {ECO:0000305|PubMed:9139825}.
-!- WEB RESOURCE: Name=Connexin-deafness homepage;
URL="http://davinci.crg.es/deafness/";
-!- WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene
page;
URL="http://hereditaryhearingloss.org/main.aspx?c=.HHH&n=86162";
-----------------------------------------------------------------------
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EMBL; M86849; AAD21314.1; -; mRNA.
EMBL; AF281280; AAF91440.1; -; Genomic_DNA.
EMBL; AF479776; AAL87696.1; -; Genomic_DNA.
EMBL; AY255853; AAP34178.1; -; Genomic_DNA.
EMBL; AY275646; AAQ94940.1; -; Genomic_DNA.
EMBL; AY275647; AAQ94941.1; -; Genomic_DNA.
EMBL; AY275648; AAQ94942.1; -; Genomic_DNA.
EMBL; AY275649; AAQ94943.1; -; Genomic_DNA.
EMBL; AY275650; AAQ94944.1; -; Genomic_DNA.
EMBL; AY275651; AAQ94945.1; -; Genomic_DNA.
EMBL; AY275652; AAQ94946.1; -; Genomic_DNA.
EMBL; AY275653; AAQ94947.1; -; Genomic_DNA.
EMBL; AY275654; AAQ94948.1; -; Genomic_DNA.
EMBL; AY280971; AAQ17213.1; -; Genomic_DNA.
EMBL; AY953438; AAY25169.1; -; Genomic_DNA.
EMBL; AY953441; AAY25170.1; -; Genomic_DNA.
EMBL; BT006732; AAP35378.1; -; mRNA.
EMBL; AL138688; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC017048; AAH17048.1; -; mRNA.
EMBL; BC071703; AAH71703.1; -; mRNA.
CCDS; CCDS9290.1; -.
PIR; A43424; A43424.
RefSeq; NP_003995.2; NM_004004.5.
RefSeq; XP_011533351.1; XM_011535049.2.
UniGene; Hs.524894; -.
UniGene; Hs.714494; -.
PDB; 1XIR; Model; -; A=1-226.
PDB; 2ZW3; X-ray; 3.50 A; A/B/C/D/E/F=1-226.
PDB; 3IZ1; EM; -; A/B/C=1-226.
PDB; 3IZ2; EM; -; A/B/C=8-226.
PDB; 5ER7; X-ray; 3.29 A; A/B=1-226.
PDB; 5ERA; X-ray; 3.80 A; A/B=1-226.
PDB; 5KJ3; NMR; -; A=1-22.
PDB; 5KJG; NMR; -; A=1-22.
PDBsum; 1XIR; -.
PDBsum; 2ZW3; -.
PDBsum; 3IZ1; -.
PDBsum; 3IZ2; -.
PDBsum; 5ER7; -.
PDBsum; 5ERA; -.
PDBsum; 5KJ3; -.
PDBsum; 5KJG; -.
ProteinModelPortal; P29033; -.
SMR; P29033; -.
BioGrid; 108972; 19.
DIP; DIP-59742N; -.
IntAct; P29033; 20.
STRING; 9606.ENSP00000372295; -.
TCDB; 1.A.24.1.3; the gap junction-forming connexin (connexin) family.
iPTMnet; P29033; -.
PhosphoSitePlus; P29033; -.
BioMuta; GJB2; -.
DMDM; 77416855; -.
EPD; P29033; -.
PaxDb; P29033; -.
PeptideAtlas; P29033; -.
PRIDE; P29033; -.
DNASU; 2706; -.
Ensembl; ENST00000382844; ENSP00000372295; ENSG00000165474.
Ensembl; ENST00000382848; ENSP00000372299; ENSG00000165474.
GeneID; 2706; -.
KEGG; hsa:2706; -.
UCSC; uc001umy.4; human.
CTD; 2706; -.
DisGeNET; 2706; -.
EuPathDB; HostDB:ENSG00000165474.5; -.
GeneCards; GJB2; -.
GeneReviews; GJB2; -.
HGNC; HGNC:4284; GJB2.
HPA; CAB013093; -.
HPA; HPA014362; -.
MalaCards; GJB2; -.
MIM; 121011; gene.
MIM; 124500; phenotype.
MIM; 148210; phenotype.
MIM; 148350; phenotype.
MIM; 149200; phenotype.
MIM; 220290; phenotype.
MIM; 601544; phenotype.
MIM; 602540; phenotype.
neXtProt; NX_P29033; -.
OpenTargets; ENSG00000165474; -.
Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
Orphanet; 330029; Hypotrichosis-deafness syndrome.
Orphanet; 494; Keratoderma hereditarium mutilans.
Orphanet; 477; KID syndrome.
Orphanet; 2698; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome.
Orphanet; 2202; Palmoplantar keratoderma-deafness syndrome.
Orphanet; 166286; Porokeratotic eccrine ostial and dermal duct nevus.
PharmGKB; PA28695; -.
eggNOG; ENOG410IFM8; Eukaryota.
eggNOG; ENOG410Y7VN; LUCA.
GeneTree; ENSGT00860000133694; -.
HOVERGEN; HBG009576; -.
InParanoid; P29033; -.
KO; K07621; -.
OMA; VMYDGFA; -.
OrthoDB; EOG091G0FKH; -.
PhylomeDB; P29033; -.
TreeFam; TF329606; -.
Reactome; R-HSA-190704; Oligomerization of connexins into connexons.
Reactome; R-HSA-190827; Transport of connexins along the secretory pathway.
Reactome; R-HSA-190861; Gap junction assembly.
Reactome; R-HSA-190872; Transport of connexons to the plasma membrane.
SIGNOR; P29033; -.
EvolutionaryTrace; P29033; -.
GeneWiki; GJB2; -.
GenomeRNAi; 2706; -.
PRO; PR:P29033; -.
Proteomes; UP000005640; Chromosome 13.
Bgee; ENSG00000165474; -.
ExpressionAtlas; P29033; baseline and differential.
Genevisible; P29033; HS.
GO; GO:0097449; C:astrocyte projection; IEA:Ensembl.
GO; GO:0044297; C:cell body; IEA:Ensembl.
GO; GO:0005922; C:connexin complex; TAS:ProtInc.
GO; GO:0005829; C:cytosol; IEA:Ensembl.
GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; TAS:Reactome.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0016328; C:lateral plasma membrane; IEA:Ensembl.
GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0005243; F:gap junction channel activity; IEA:Ensembl.
GO; GO:0007568; P:aging; IEA:Ensembl.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:0071549; P:cellular response to dexamethasone stimulus; IEA:Ensembl.
GO; GO:0071377; P:cellular response to glucagon stimulus; IEA:Ensembl.
GO; GO:0034599; P:cellular response to oxidative stress; IEA:Ensembl.
GO; GO:0046697; P:decidualization; IEA:Ensembl.
GO; GO:1905867; P:epididymis development; IEA:Ensembl.
GO; GO:0016264; P:gap junction assembly; TAS:Reactome.
GO; GO:0048839; P:inner ear development; IEA:Ensembl.
GO; GO:0046677; P:response to antibiotic; IEA:Ensembl.
GO; GO:0032355; P:response to estradiol; IEA:Ensembl.
GO; GO:0044752; P:response to human chorionic gonadotropin; IEA:Ensembl.
GO; GO:0002931; P:response to ischemia; IEA:Ensembl.
GO; GO:0032496; P:response to lipopolysaccharide; IEA:Ensembl.
GO; GO:0032570; P:response to progesterone; IEA:Ensembl.
GO; GO:0032526; P:response to retinoic acid; IEA:Ensembl.
GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
GO; GO:0006810; P:transport; TAS:ProtInc.
InterPro; IPR000500; Connexin.
InterPro; IPR002268; Connexin26.
InterPro; IPR019570; Connexin_CCC.
InterPro; IPR017990; Connexin_CS.
InterPro; IPR013092; Connexin_N.
PANTHER; PTHR11984; PTHR11984; 1.
Pfam; PF00029; Connexin; 1.
PRINTS; PR00206; CONNEXIN.
PRINTS; PR01139; CONNEXINB2.
SMART; SM00037; CNX; 1.
SMART; SM01089; Connexin_CCC; 1.
PROSITE; PS00407; CONNEXINS_1; 1.
PROSITE; PS00408; CONNEXINS_2; 1.
1: Evidence at protein level;
3D-structure; Cell junction; Cell membrane; Complete proteome;
Deafness; Disease mutation; Disulfide bond; Ectodermal dysplasia;
Gap junction; Hearing; Ichthyosis; Membrane; Non-syndromic deafness;
Palmoplantar keratoderma; Polymorphism; Reference proteome;
Transmembrane; Transmembrane helix.
CHAIN 1 226 Gap junction beta-2 protein.
/FTId=PRO_0000057855.
TOPO_DOM 1 20 Cytoplasmic. {ECO:0000255}.
TRANSMEM 21 40 Helical. {ECO:0000255}.
TOPO_DOM 41 75 Extracellular. {ECO:0000255}.
TRANSMEM 76 98 Helical. {ECO:0000255}.
TOPO_DOM 99 131 Cytoplasmic. {ECO:0000255}.
TRANSMEM 132 154 Helical. {ECO:0000255}.
TOPO_DOM 155 192 Extracellular. {ECO:0000255}.
TRANSMEM 193 215 Helical. {ECO:0000255}.
TOPO_DOM 216 226 Cytoplasmic. {ECO:0000255}.
DISULFID 53 180 {ECO:0000269|PubMed:19340074}.
DISULFID 60 174 {ECO:0000269|PubMed:19340074}.
DISULFID 64 169 {ECO:0000269|PubMed:19340074}.
VARIANT 12 12 G -> R (in KID syndrome;
dbSNP:rs104894408).
{ECO:0000269|PubMed:11912510}.
/FTId=VAR_015453.
VARIANT 17 17 S -> F (in KID syndrome;
dbSNP:rs28929485).
{ECO:0000269|PubMed:11912510}.
/FTId=VAR_015454.
VARIANT 27 27 V -> I (in dbSNP:rs2274084).
{ECO:0000269|PubMed:10607953,
ECO:0000269|PubMed:12560944,
ECO:0000269|PubMed:12746422,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:15666300,
ECO:0000269|PubMed:19416251,
ECO:0000269|PubMed:9529365}.
/FTId=VAR_002137.
VARIANT 32 32 R -> H (in DFNB1A; dbSNP:rs111033190).
{ECO:0000269|PubMed:15666300}.
/FTId=VAR_023605.
VARIANT 32 32 R -> L (in dbSNP:rs111033190).
{ECO:0000269|Ref.6}.
/FTId=VAR_016839.
VARIANT 34 34 M -> T (frequently found in deafness
patients; it is correctly synthesized and
targeted to the plasma membrane; it
inefficiently forms intercellular
channels that display an abnormal
electrical behavior; uncertain
pathological significance;
dbSNP:rs35887622).
{ECO:0000269|PubMed:14694360,
ECO:0000269|PubMed:16849369,
ECO:0000269|PubMed:17935238,
ECO:0000269|PubMed:9139825,
ECO:0000269|PubMed:9600457}.
/FTId=VAR_002138.
VARIANT 37 37 V -> I (in DFNB1A; was reported first as
a polymorphism; dbSNP:rs72474224).
{ECO:0000269|PubMed:10607953,
ECO:0000269|PubMed:10830906,
ECO:0000269|PubMed:12121355,
ECO:0000269|PubMed:12560944,
ECO:0000269|PubMed:12786758,
ECO:0000269|PubMed:14722929,
ECO:0000269|PubMed:17935238,
ECO:0000269|PubMed:23680645,
ECO:0000269|PubMed:9529365}.
/FTId=VAR_002139.
VARIANT 44 44 W -> C (in DFNA3A; dbSNP:rs104894407).
{ECO:0000269|PubMed:9620796}.
/FTId=VAR_008709.
VARIANT 44 44 W -> S (in DFNA3A; does not affect
protein trafficking; affects the ability
to form functional channels; dominant
negative effect; dbSNP:rs104894413).
{ECO:0000269|PubMed:12668604}.
/FTId=VAR_032749.
VARIANT 45 45 G -> E (in deafness; dbSNP:rs72561723).
{ECO:0000269|PubMed:12560944}.
/FTId=VAR_015455.
VARIANT 46 48 DEQ -> E (may contribute to deafness).
{ECO:0000269|PubMed:14722929}.
/FTId=VAR_023606.
VARIANT 46 46 D -> E (in DFNA3A; the mutant is targeted
to the plasma membrane but failes to
transfer ionic calcium or propidium
iodide intercellularly suggesting
disruption of both ionic and biochemical
coupling; heterozygous gap junctions also
show dysfunctional intercellular
couplings and hemichannel opening
confirming the dominant-negative nature
of the mutation).
{ECO:0000269|PubMed:19384972}.
/FTId=VAR_060798.
VARIANT 50 50 D -> N (in KID syndrome and HID syndrome;
dbSNP:rs28931594).
{ECO:0000269|PubMed:11912510,
ECO:0000269|PubMed:12072059,
ECO:0000269|PubMed:12548749,
ECO:0000269|PubMed:12752120}.
/FTId=VAR_015456.
VARIANT 50 50 D -> Y (in KID syndrome;
dbSNP:rs28931594).
{ECO:0000269|PubMed:12752120}.
/FTId=VAR_015935.
VARIANT 54 54 N -> K (in BPS; dbSNP:rs104894412).
{ECO:0000269|PubMed:15482471}.
/FTId=VAR_032750.
VARIANT 59 59 G -> A (in PPKDFN; impairs trafficking;
localizes intracellularly closed to the
nucleus; affects the ability to form
functional channels; phenotype can be
rescued by coexpression with wild-type
protein; dbSNP:rs104894404).
{ECO:0000269|PubMed:10633135,
ECO:0000269|PubMed:12668604}.
/FTId=VAR_009965.
VARIANT 59 59 G -> S (in BPS; dbSNP:rs104894410).
{ECO:0000269|PubMed:15952212}.
/FTId=VAR_032751.
VARIANT 66 66 D -> H (in VOWNKL and PPKDFN; impairs
trafficking; localizes intracellularly
closed to the nucleus; affects the
ability to form functional channels;
phenotype can be rescued by coexpression
with wild-type protein;
dbSNP:rs104894403).
{ECO:0000269|PubMed:10369869,
ECO:0000269|PubMed:10757647,
ECO:0000269|PubMed:12668604}.
/FTId=VAR_008710.
VARIANT 71 71 I -> T (in deafness).
{ECO:0000269|PubMed:12560944}.
/FTId=VAR_015457.
VARIANT 73 73 H -> R (in PPKDFN; the mutant has a
dominant-negative effect on connexin
trafficking; dbSNP:rs121912968).
{ECO:0000269|PubMed:17993581}.
/FTId=VAR_060799.
VARIANT 75 75 R -> Q (in PPKDFN; the mutant protein
completely prevents the formation of
functional channels; dbSNP:rs28931593).
{ECO:0000269|PubMed:12372058,
ECO:0000269|PubMed:15996214}.
/FTId=VAR_015936.
VARIANT 75 75 R -> W (in PPKDFN and DFNA3A; does not
affect protein trafficking; affects the
ability to form functional channels;
dominant negative effect;
dbSNP:rs104894402).
{ECO:0000269|PubMed:12668604,
ECO:0000269|PubMed:9856479}.
/FTId=VAR_002140.
VARIANT 77 77 W -> R (in DFNB1A; dbSNP:rs104894397).
{ECO:0000269|PubMed:9328482}.
/FTId=VAR_002141.
VARIANT 79 79 L -> P (in DFNB1A).
{ECO:0000269|PubMed:11439000}.
/FTId=VAR_023607.
VARIANT 80 80 Q -> K (in DFNB1A).
{ECO:0000269|PubMed:15666300}.
/FTId=VAR_023608.
VARIANT 83 83 F -> L (in dbSNP:rs111033218).
{ECO:0000269|PubMed:9600457}.
/FTId=VAR_002142.
VARIANT 84 84 V -> L (in DFNB1A; sorted to the plasma
membrane normally and forms gap junctions
that were morphologically and
electrically indistinguishable from those
of control; the mutation reduces the
permeability of GJB2 gap junction
channels to inositol 1,4,5-trisphosphate
(Ins(1,4,5)P3), resulting in blockade of
the Ins(1,4,5)P3-induced inward calcium
current in neighboring cells;
dbSNP:rs104894409).
{ECO:0000269|PubMed:15592461,
ECO:0000269|PubMed:9529365}.
/FTId=VAR_002143.
VARIANT 84 84 V -> M (in DFNB1A; the mutant disrupts
cellular communication;
dbSNP:rs104894409).
{ECO:0000269|PubMed:17660464}.
/FTId=VAR_060800.
VARIANT 86 86 T -> R (in DFNB1A; does not form gap
junctions since the mutated protein is
confined in the cytoplasm and not
transported to the cell membrane; when
the mutation is coexpressed with the
wild-type protein ionic and biochemical
coupling is normal consistent with the
recessive nature of the mutation).
{ECO:0000269|PubMed:12560944,
ECO:0000269|PubMed:19384972}.
/FTId=VAR_015458.
VARIANT 90 90 L -> P (in DFNB1A; dbSNP:rs80338945).
{ECO:0000269|PubMed:10830906,
ECO:0000269|PubMed:11313763}.
/FTId=VAR_015937.
VARIANT 93 93 M -> I (in DFNB1A; dbSNP:rs397516871).
{ECO:0000269|PubMed:15666300}.
/FTId=VAR_023609.
VARIANT 95 95 V -> M (in DFNB1A; dbSNP:rs111033299).
{ECO:0000269|PubMed:9529365}.
/FTId=VAR_002144.
VARIANT 111 111 I -> T. {ECO:0000269|PubMed:12746422}.
/FTId=VAR_015938.
VARIANT 113 113 S -> R (in DFNB1A; dbSNP:rs80338946).
{ECO:0000269|PubMed:9529365}.
/FTId=VAR_002145.
VARIANT 114 114 E -> G (in dbSNP:rs2274083).
{ECO:0000269|PubMed:10607953,
ECO:0000269|PubMed:12560944,
ECO:0000269|PubMed:12746422,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:15666300}.
/FTId=VAR_009966.
VARIANT 117 117 D -> H. {ECO:0000269|PubMed:15954104}.
/FTId=VAR_069519.
VARIANT 118 118 Missing (in DFNB1A).
/FTId=VAR_060801.
VARIANT 120 120 Missing (in DFNB1A).
{ECO:0000269|PubMed:15666300}.
/FTId=VAR_023610.
VARIANT 123 123 T -> N (in dbSNP:rs111033188).
{ECO:0000269|PubMed:12560944}.
/FTId=VAR_015459.
VARIANT 127 127 R -> H (very common polymorphism in
India; dbSNP:rs111033196).
{ECO:0000269|PubMed:12746422,
ECO:0000269|PubMed:14722929,
ECO:0000269|PubMed:15666300}.
/FTId=VAR_015939.
VARIANT 129 129 E -> K (in DFNB1A; dbSNP:rs397516875).
{ECO:0000269|PubMed:15666300}.
/FTId=VAR_023611.
VARIANT 130 130 G -> A (in DFNB1A).
{ECO:0000269|PubMed:23680645}.
/FTId=VAR_069520.
VARIANT 130 130 G -> D (in DFNB1A; dbSNP:rs779018464).
{ECO:0000269|PubMed:17666888}.
/FTId=VAR_069521.
VARIANT 130 130 G -> V (in VOWNKL).
{ECO:0000269|PubMed:15954104,
ECO:0000269|PubMed:18688874}.
/FTId=VAR_069522.
VARIANT 142 142 Missing. {ECO:0000269|PubMed:15954104}.
/FTId=VAR_069523.
VARIANT 143 143 R -> Q (in DFNA3A; dbSNP:rs104894401).
{ECO:0000269|PubMed:11313763}.
/FTId=VAR_015940.
VARIANT 143 143 R -> W (in DFNB1A; dbSNP:rs80338948).
{ECO:0000269|PubMed:11439000,
ECO:0000269|PubMed:12560944,
ECO:0000269|PubMed:15666300,
ECO:0000269|PubMed:9471561}.
/FTId=VAR_015460.
VARIANT 148 148 A -> P. {ECO:0000269|PubMed:15954104}.
/FTId=VAR_069524.
VARIANT 153 153 V -> I (may contribute to deafness;
dbSNP:rs111033186).
{ECO:0000269|PubMed:12746422,
ECO:0000269|PubMed:14722929,
ECO:0000269|PubMed:15666300}.
/FTId=VAR_009967.
VARIANT 159 159 D -> V (in DFNB1A; dbSNP:rs28931592).
{ECO:0000269|PubMed:12239718}.
/FTId=VAR_015941.
VARIANT 160 160 G -> S (in dbSNP:rs34988750).
{ECO:0000269|PubMed:14722929,
ECO:0000269|PubMed:9600457}.
/FTId=VAR_002146.
VARIANT 165 165 R -> W (in dbSNP:rs376898963).
{ECO:0000269|PubMed:12746422}.
/FTId=VAR_015942.
VARIANT 167 167 V -> M (may contribute to deafness;
dbSNP:rs111033360).
{ECO:0000269|PubMed:14722929}.
/FTId=VAR_023612.
VARIANT 168 168 K -> R (in a patient with congenital
erythrokeratodermia; unknown pathological
significance; dbSNP:rs200104362).
{ECO:0000269|PubMed:19283857}.
/FTId=VAR_057959.
VARIANT 169 169 C -> Y (in dbSNP:rs774518779).
/FTId=VAR_009968.
VARIANT 178 178 V -> A (in DFNB1A; dbSNP:rs568612627).
{ECO:0000269|PubMed:11439000}.
/FTId=VAR_023613.
VARIANT 179 179 D -> N (in DFNA3A; dbSNP:rs28931595).
{ECO:0000269|PubMed:12786758}.
/FTId=VAR_032752.
VARIANT 184 184 R -> P (in DFNB1A; dbSNP:rs80338950).
{ECO:0000269|PubMed:15666300,
ECO:0000269|PubMed:9336442}.
/FTId=VAR_015943.
VARIANT 184 184 R -> Q (in DFNA3A; dbSNP:rs80338950).
{ECO:0000269|PubMed:11439000}.
/FTId=VAR_023614.
VARIANT 184 184 R -> W (in DFNB1A).
{ECO:0000269|PubMed:10830906}.
/FTId=VAR_009969.
VARIANT 191 191 F -> L (in dbSNP:rs397516878).
{ECO:0000269|PubMed:12560944}.
/FTId=VAR_015461.
VARIANT 197 197 A -> S (in DFNA3A).
{ECO:0000269|PubMed:11439000}.
/FTId=VAR_023615.
VARIANT 202 202 C -> F (in DFNA3A; dbSNP:rs104894406).
{ECO:0000269|PubMed:10807696}.
/FTId=VAR_015944.
VARIANT 203 203 I -> K (in DFNB1A).
{ECO:0000269|PubMed:11439000}.
/FTId=VAR_023616.
VARIANT 203 203 I -> T (in dbSNP:rs76838169).
{ECO:0000269|PubMed:10607953,
ECO:0000269|PubMed:12560944}.
/FTId=VAR_009970.
VARIANT 214 214 L -> P (in DFNB1A).
{ECO:0000269|PubMed:11439000}.
/FTId=VAR_023617.
CONFLICT 86 86 T -> S (in Ref. 1; AAD21314).
{ECO:0000305}.
CONFLICT 112 112 K -> N (in Ref. 4; AAY25170).
{ECO:0000305}.
HELIX 5 11 {ECO:0000244|PDB:2ZW3}.
HELIX 21 41 {ECO:0000244|PDB:5ER7}.
TURN 42 44 {ECO:0000244|PDB:5ER7}.
TURN 47 50 {ECO:0000244|PDB:5ER7}.
STRAND 52 54 {ECO:0000244|PDB:5ER7}.
HELIX 60 68 {ECO:0000244|PDB:5ER7}.
HELIX 73 83 {ECO:0000244|PDB:5ER7}.
HELIX 87 94 {ECO:0000244|PDB:5ER7}.
TURN 106 108 {ECO:0000244|PDB:2ZW3}.
TURN 126 130 {ECO:0000244|PDB:2ZW3}.
HELIX 136 155 {ECO:0000244|PDB:5ER7}.
TURN 156 159 {ECO:0000244|PDB:5ER7}.
STRAND 160 162 {ECO:0000244|PDB:2ZW3}.
STRAND 165 169 {ECO:0000244|PDB:5ER7}.
STRAND 174 176 {ECO:0000244|PDB:5ER7}.
STRAND 178 181 {ECO:0000244|PDB:5ER7}.
HELIX 185 211 {ECO:0000244|PDB:5ER7}.
SEQUENCE 226 AA; 26215 MW; D35293C6747E908C CRC64;
MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC
KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE
IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC
FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV


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