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Cadherin-23 (Otocadherin)

 CAD23_HUMAN             Reviewed;        3354 AA.
Q9H251; C4IXS9; F6U049; Q5QGS1; Q5QGS2; Q5QGS5; Q5QGS6; Q5XKN2;
Q6UWW1; Q96JL3; Q9H4K9;
16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
03-OCT-2012, sequence version 2.
25-OCT-2017, entry version 169.
RecName: Full=Cadherin-23;
AltName: Full=Otocadherin;
Flags: Precursor;
Name=CDH23; Synonyms=KIAA1774, KIAA1812; ORFNames=UNQ1894/PRO4340;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS USH1D
MET-1281 DEL; HIS-1496 AND GLN-1746, AND VARIANTS CYS-3; ALA-490;
ASN-496; THR-1222; CYS-1349; ASP-1351; THR-1575; SER-1671; ILE-1675;
GLN-1804; SER-1999; LYS-2044; GLN-2358; LEU-2380; GLN-2588 AND
LEU-3125.
PubMed=11138009; DOI=10.1038/83667;
Bolz H., Von Brederlow B., Ramirez A., Bryda E.C., Kutsche K.,
Nothwang H.G., Seeliger M., Del C.-Salcedo Cabrera M.,
Vila Caballero M., Pelaez Molina O., Gal A., Kubisch C.;
"Mutation of CDH23, encoding a new member of the cadherin gene family,
causes Usher syndrome type 1D.";
Nat. Genet. 27:108-112(2001).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), AND VARIANT CYS-3.
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 9; 10 AND 11).
TISSUE=Retina;
PubMed=15882574; DOI=10.1016/j.ydbio.2005.01.015;
Lagziel A., Ahmed Z.M., Schultz J.M., Morell R.J., Belyantseva I.A.,
Friedman T.B.;
"Spatiotemporal pattern and isoforms of cadherin 23 in wild type and
waltzer mice during inner ear hair cell development.";
Dev. Biol. 280:295-306(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
TISSUE=Eye;
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).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-3354 (ISOFORM 6), AND
VARIANT ASN-496.
TISSUE=Brain;
PubMed=11347906; DOI=10.1093/dnares/8.2.85;
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XX.
The complete sequences of 100 new cDNA clones from brain which code
for large proteins in vitro.";
DNA Res. 8:85-95(2001).
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 803-3354, ALTERNATIVE SPLICING, AND
VARIANTS DFNB12 ASN-990; ASP-1351; THR-1575; ASN-2045; ASN-2202;
ASN-2950; CYS-2956 AND THR-3059.
PubMed=11090341; DOI=10.1086/316954;
Bork J.M., Peters L.M., Riazuddin S., Bernstein S.L., Ahmed Z.M.,
Ness S.L., Polomeno R., Ramesh A., Schloss M., Srisailpathy C.R.S.,
Wayne S., Bellman S., Desmukh D., Ahmed Z., Khan S.N.,
Kaloustian V.M.D., Li X.C., Lalwani A., Riazuddin S.,
Bitner-Glindzicz M., Nance W.E., Liu X.-Z., Wistow G., Smith R.J.H.,
Griffith A.J., Wilcox E.R., Friedman T.B., Morell R.J.;
"Usher syndrome 1D and nonsyndromic autosomal recessive deafness
DFNB12 are caused by allelic mutations of the novel cadherin-like gene
CDH23.";
Am. J. Hum. Genet. 68:26-37(2001).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2173-3354 (ISOFORM 4).
TISSUE=Brain;
PubMed=11597768; DOI=10.1016/S0169-328X(01)00218-2;
Nakajima D., Nakayama M., Kikuno R., Hirosawa M., Nagase T., Ohara O.;
"Identification of three novel non-classical cadherin genes through
comprehensive analysis of large cDNAs.";
Brain Res. Mol. Brain Res. 94:85-95(2001).
[9]
INTERACTION WITH USH1G.
PubMed=21436032; DOI=10.1073/pnas.1017114108;
Caberlotto E., Michel V., Foucher I., Bahloul A., Goodyear R.J.,
Pepermans E., Michalski N., Perfettini I., Alegria-Prevot O.,
Chardenoux S., Do Cruzeiro M., Hardelin J.P., Richardson G.P.,
Avan P., Weil D., Petit C.;
"Usher type 1G protein sans is a critical component of the tip-link
complex, a structure controlling actin polymerization in
stereocilia.";
Proc. Natl. Acad. Sci. U.S.A. 108:5825-5830(2011).
[10]
STRUCTURE BY NMR OF 3183-3354 IN COMPLEX WITH USH1C, AND INTERACTION
WITH USH1C.
PubMed=19297620; DOI=10.1073/pnas.0901819106;
Pan L., Yan J., Wu L., Zhang M.;
"Assembling stable hair cell tip link complex via multidentate
interactions between harmonin and cadherin 23.";
Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009).
[11]
VARIANTS DFNB12 GLY-124; SER-452; GLN-480; GLN-582; TRP-1060;
ASP-1186; PRO-1586; LYS-1595; ASN-1846; TRP-2465 AND HIS-2608,
VARIANTS USH1D PRO-484; ARG-1206; ALA-1209; GLY-2517; SER-2744;
GLY-2833 AND HIS-3175, AND VARIANTS CYS-3; ALA-490; ASN-496; THR-1222;
GLN-1437; MET-1620; ILE-1675; GLN-1804; ILE-1887; SER-1999; LYS-2044;
GLN-2066; ILE-2283; GLN-2358; LEU-2380; GLN-2588; GLU-2933; ASN-2954
AND SER-2962.
PubMed=12075507; DOI=10.1086/341558;
Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R.,
Orten D.J., Ohliger S.J., Riazuddin S., Morell R.J., Khan S.,
Riazuddin S., Kremer H., van Hauwe P., Moller C.G., Cremers C.W.R.J.,
Ayuso C., Heckenlively J.R., Rohrschneider K., Spandau U.,
Greenberg J., Ramesar R., Reardon W., Bitoun P., Millan J., Legge R.,
Friedman T.B., Kimberling W.J.;
"CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse
families with Usher syndrome and nonsyndromic deafness.";
Am. J. Hum. Genet. 71:262-275(2002).
[12]
VARIANTS DFNB12 ASN-1341 AND ASN-2148, AND VARIANTS ILE-2283; GLN-2358
AND LEU-2380.
PubMed=12522556; DOI=10.1007/s00439-002-0833-0;
de Brouwer A.P.M., Pennings R.J.E., Roeters M., Van Hauwe P.,
Astuto L.M., Hoefsloot L.H., Huygen P.L.M., van den Helm B.,
Deutman A.F., Bork J.M., Kimberling W.J., Cremers F.P.M.,
Cremers C.W.R.J., Kremer H.;
"Mutations in the calcium-binding motifs of CDH23 and the 35delG
mutation in GJB2 cause hearing loss in one family.";
Hum. Genet. 112:156-163(2003).
[13]
VARIANTS USH1D THR-366; ALA-1209; GLN-1507; TRP-3189 AND PHE-3245.
PubMed=15660226; DOI=10.1007/s00439-004-1227-2;
Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G.,
Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M.,
Balkany T., Liu X.Z.;
"Characterization of Usher syndrome type I gene mutations in an Usher
syndrome patient population.";
Hum. Genet. 116:292-299(2005).
[14]
VARIANT USH1DF TRP-3189.
PubMed=15537665; DOI=10.1093/hmg/ddi010;
Zheng Q.Y., Yan D., Ouyang X.M., Du L.L., Yu H., Chang B.,
Johnson K.R., Liu X.Z.;
"Digenic inheritance of deafness caused by mutations in genes encoding
cadherin 23 and protocadherin 15 in mice and humans.";
Hum. Mol. Genet. 14:103-111(2005).
[15]
VARIANT DFNB12 SER-1888.
PubMed=15829536; DOI=10.1056/NEJMoa043899;
Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R.,
Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C.,
Penniston J.T., Griffith A.J.;
"Modification of human hearing loss by plasma-membrane calcium pump
PMCA2.";
N. Engl. J. Med. 352:1557-1564(2005).
[16]
ERRATUM.
Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R.,
Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C.,
Penniston J.T., Griffith A.J.;
N. Engl. J. Med. 352:2362-2362(2005).
[17]
VARIANTS USH1D LYS-247 AND SER-2017, AND VARIANT DFNB12 TRP-1060.
PubMed=16679490; DOI=10.1136/jmg.2006.041954;
Roux A.-F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A.,
Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S.,
Claustres M.;
"Survey of the frequency of USH1 gene mutations in a cohort of Usher
patients shows the importance of cadherin 23 and protocadherin 15
genes and establishes a detection rate of above 90%.";
J. Med. Genet. 43:763-768(2006).
[18]
VARIANTS DFNB12 LEU-240; GLN-301; PRO-1716 AND TRP-2029, AND VARIANTS
TRP-1417; ILE-1711; MET-1807; ASN-1876; ILE-1908; CYS-2171; PRO-2227;
ILE-2283; PRO-2473; HIS-2489; VAL-2669; VAL-2801 AND CYS-3175.
PubMed=17850630; DOI=10.1111/j.1399-0004.2007.00833.x;
Wagatsuma M., Kitoh R., Suzuki H., Fukuoka H., Takumi Y., Usami S.;
"Distribution and frequencies of CDH23 mutations in Japanese patients
with non-syndromic hearing loss.";
Clin. Genet. 72:339-344(2007).
[19]
VARIANTS USH1D THR-366; TYR-755; ILE-1090; SER-1098; HIS-1496;
LEU-1788; TRP-1912; ASN-1930; SER-2017; VAL-2376; ILE-2530; SER-2771
AND ALA-2968, AND VARIANTS ALA-490; ASN-496; ILE-746; GLY-944;
LYS-960; THR-1222; GLN-1236; SER-1282; CYS-1349; ASP-1351; GLN-1437;
MET-1520; THR-1574; ILE-1675; SER-1999; ILE-2283; LEU-2380; GLN-2588
AND LEU-3125.
PubMed=18429043; DOI=10.1002/humu.20761;
Oshima A., Jaijo T., Aller E., Millan J.M., Carney C., Usami S.,
Moller C., Kimberling W.J.;
"Mutation profile of the CDH23 gene in 56 probands with Usher syndrome
type I.";
Hum. Mutat. 29:E37-E46(2008).
[20]
VARIANTS DFNB12 LEU-240; GLN-301; LYS-956; MET-1368; TRP-1417;
ALA-1626; PRO-1716; TRP-2029; LYS-2287 AND LYS-2438, AND VARIANTS
ASN-160; ILE-803; ILE-1415; GLY-1443; TRP-1588; ILE-1711; MET-1807;
ASN-1876; ILE-1908; VAL-2130; CYS-2171; PRO-2227; PRO-2473; VAL-2669;
VAL-2801; SER-2912 AND CYS-3175.
PubMed=22899989; DOI=10.1371/journal.pone.0040366;
Miyagawa M., Nishio S.Y., Usami S.;
"Prevalence and clinical features of hearing loss patients with CDH23
mutations: a large cohort study.";
PLoS ONE 7:E40366-E40366(2012).
[21]
VARIANTS DFNB12 LEU-240; SER-342 AND LYS-1595, AND VARIANTS SER-361;
MET-424; ASN-428; ALA-490; ASN-496; GLN-964; HIS-1010; SER-1118;
ALA-1335; ASP-1351; GLN-1437; THR-1575; TRP-1588; ILE-1675; GLN-1804;
GLU-1806; SER-1999; LYS-2044; ILE-2283; GLN-2358; LEU-2380; VAL-2531;
VAL-2801; THR-3080 AND LEU-3125.
PubMed=24767429; DOI=10.1186/1471-2350-15-46;
Woo H.M., Park H.J., Park M.H., Kim B.Y., Shin J.W., Yoo W.G.,
Koo S.K.;
"Identification of CDH23 mutations in Korean families with hearing
loss by whole-exome sequencing.";
BMC Med. Genet. 15:46-46(2014).
[22]
VARIANTS GLN-192 AND THR-3062.
PubMed=24916380; DOI=10.1093/hmg/ddu291;
Xie Y.A., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T.,
Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., Gibbs R.,
Greenstein V.C., Lupski J.R., Tsang S.H., Allikmets R.;
"New syndrome with retinitis pigmentosa is caused by nonsense
mutations in retinol dehydrogenase RDH11.";
Hum. Mol. Genet. 23:5774-5780(2014).
-!- FUNCTION: Cadherins are calcium-dependent cell adhesion proteins.
They preferentially interact with themselves in a homophilic
manner in connecting cells. CDH23 is required for establishing
and/or maintaining the proper organization of the stereocilia
bundle of hair cells in the cochlea and the vestibule during late
embryonic/early postnatal development. It is part of the
functional network formed by USH1C, USH1G, CDH23 and MYO7A that
mediates mechanotransduction in cochlear hair cells. Required for
normal hearing.
-!- SUBUNIT: antiparallel heterodimer with PCDH15 (By similarity).
Interacts with USH1C and USH1G. {ECO:0000250,
ECO:0000269|PubMed:19297620, ECO:0000269|PubMed:21436032}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass
type I membrane protein {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=11;
Comment=Additional isoforms seem to exist.;
Name=1;
IsoId=Q9H251-1; Sequence=Displayed;
Name=2;
IsoId=Q9H251-2; Sequence=VSP_000645;
Name=3;
IsoId=Q9H251-3; Sequence=VSP_000646;
Name=4;
IsoId=Q9H251-4; Sequence=VSP_000647;
Name=5;
IsoId=Q9H251-5; Sequence=VSP_013268, VSP_013269;
Name=6;
IsoId=Q9H251-6; Sequence=VSP_035289, VSP_035290;
Note=No experimental confirmation available.;
Name=7; Synonyms=B1;
IsoId=Q9H251-7; Sequence=VSP_044260;
Name=8;
IsoId=Q9H251-8; Sequence=VSP_044261, VSP_000645;
Note=No experimental confirmation available.;
Name=9; Synonyms=B2;
IsoId=Q9H251-9; Sequence=VSP_044260, VSP_000647;
Name=10; Synonyms=C1;
IsoId=Q9H251-10; Sequence=VSP_047923, VSP_047924;
Name=11; Synonyms=C2;
IsoId=Q9H251-11; Sequence=VSP_047923, VSP_047924, VSP_000647;
-!- TISSUE SPECIFICITY: Particularly strong expression in the retina.
Found also in the cochlea.
-!- DOMAIN: Three calcium ions are usually bound at the interface of
each cadherin domain and rigidify the connections, imparting a
strong curvature to the full-length ectodomain. {ECO:0000250}.
-!- DOMAIN: Cadherin repeats 1 and 2 mediate calcium-dependent
heterophilic interaction with PCDH15. {ECO:0000250}.
-!- DISEASE: Usher syndrome 1D (USH1D) [MIM:601067]: USH is a
genetically heterogeneous condition characterized by the
association of retinitis pigmentosa with sensorineural deafness.
Age at onset and differences in auditory and vestibular function
distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2
(USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by
profound congenital sensorineural deafness, absent vestibular
function and prepubertal onset of progressive retinitis pigmentosa
leading to blindness. {ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:15660226,
ECO:0000269|PubMed:16679490, ECO:0000269|PubMed:18429043}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF
patients are heterozygous for mutations in CDH23 and PCDH15,
indicating a digenic inheritance pattern.
{ECO:0000269|PubMed:15537665}. Note=The disease is caused by
mutations affecting distinct genetic loci, including the gene
represented in this entry.
-!- DISEASE: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]:
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:11090341,
ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556,
ECO:0000269|PubMed:15829536, ECO:0000269|PubMed:16679490,
ECO:0000269|PubMed:17850630, ECO:0000269|PubMed:22899989,
ECO:0000269|PubMed:24767429}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- WEB RESOURCE: Name=Mutations of the CDH23 gene; Note=Retina
International's Scientific Newsletter;
URL="http://www.retina-international.org/files/sci-news/cdh23mut.htm";
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EMBL; AF312024; AAG48303.1; -; mRNA.
EMBL; AY358617; AAQ88980.1; -; mRNA.
EMBL; AY563161; AAT72161.1; -; mRNA.
EMBL; AY563162; AAT72162.1; -; mRNA.
EMBL; AY563165; AAT72165.1; -; mRNA.
EMBL; AY563166; AAT72166.1; -; mRNA.
EMBL; AC012469; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL359183; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL731541; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL772287; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC011570; AAH11570.1; -; mRNA.
EMBL; BC136976; AAI36977.1; -; mRNA.
EMBL; BC136977; AAI36978.1; -; mRNA.
EMBL; AB058715; BAB47441.1; -; mRNA.
EMBL; AY010111; AAG27034.2; -; mRNA.
EMBL; AB053445; BAB61902.1; -; mRNA.
CCDS; CCDS44429.1; -. [Q9H251-5]
CCDS; CCDS53540.1; -. [Q9H251-7]
CCDS; CCDS73146.1; -. [Q9H251-9]
RefSeq; NP_001165401.1; NM_001171930.1.
RefSeq; NP_001165402.1; NM_001171931.1.
RefSeq; NP_001165403.1; NM_001171932.1.
RefSeq; NP_001165404.1; NM_001171933.1. [Q9H251-7]
RefSeq; NP_001165405.1; NM_001171934.1. [Q9H251-9]
RefSeq; NP_001165406.1; NM_001171935.1. [Q9H251-10]
RefSeq; NP_001165407.1; NM_001171936.1. [Q9H251-11]
RefSeq; NP_071407.4; NM_022124.5. [Q9H251-1]
RefSeq; NP_443068.1; NM_052836.3. [Q9H251-5]
RefSeq; XP_016871997.1; XM_017016508.1. [Q9H251-7]
UniGene; Hs.656032; -.
PDB; 2KBR; NMR; -; B=3183-3200.
PDB; 2KBS; NMR; -; B=3347-3354.
PDB; 2LSR; NMR; -; B=3212-3227.
PDBsum; 2KBR; -.
PDBsum; 2KBS; -.
PDBsum; 2LSR; -.
ProteinModelPortal; Q9H251; -.
SMR; Q9H251; -.
BioGrid; 122042; 12.
CORUM; Q9H251; -.
DIP; DIP-48786N; -.
ELM; Q9H251; -.
IntAct; Q9H251; 9.
MINT; MINT-4830802; -.
STRING; 9606.ENSP00000381768; -.
iPTMnet; Q9H251; -.
PhosphoSitePlus; Q9H251; -.
BioMuta; CDH23; -.
DMDM; 408359994; -.
PaxDb; Q9H251; -.
PeptideAtlas; Q9H251; -.
PRIDE; Q9H251; -.
Ensembl; ENST00000398788; ENSP00000381768; ENSG00000107736. [Q9H251-7]
Ensembl; ENST00000461841; ENSP00000473454; ENSG00000107736. [Q9H251-5]
Ensembl; ENST00000619887; ENSP00000478374; ENSG00000107736. [Q9H251-9]
GeneID; 64072; -.
KEGG; hsa:64072; -.
UCSC; uc001jsg.5; human. [Q9H251-1]
CTD; 64072; -.
DisGeNET; 64072; -.
EuPathDB; HostDB:ENSG00000107736.19; -.
GeneCards; CDH23; -.
GeneReviews; CDH23; -.
H-InvDB; HIX0008905; -.
HGNC; HGNC:13733; CDH23.
HPA; HPA017232; -.
MalaCards; CDH23; -.
MIM; 276900; phenotype.
MIM; 601067; phenotype.
MIM; 601386; phenotype.
MIM; 605516; gene.
neXtProt; NX_Q9H251; -.
OpenTargets; ENSG00000107736; -.
Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
Orphanet; 231169; Usher syndrome type 1.
PharmGKB; PA26296; -.
eggNOG; KOG1219; Eukaryota.
eggNOG; ENOG410XPEI; LUCA.
GeneTree; ENSGT00760000118805; -.
HOGENOM; HOG000139588; -.
HOVERGEN; HBG050768; -.
InParanoid; Q9H251; -.
KO; K06813; -.
TreeFam; TF320624; -.
ChiTaRS; CDH23; human.
EvolutionaryTrace; Q9H251; -.
GeneWiki; CDH23; -.
GenomeRNAi; 64072; -.
PRO; PR:Q9H251; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000107736; -.
CleanEx; HS_CDH23; -.
ExpressionAtlas; Q9H251; baseline and differential.
Genevisible; Q9H251; HS.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0016020; C:membrane; NAS:UniProtKB.
GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
GO; GO:0032420; C:stereocilium; ISS:HGNC.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0006816; P:calcium ion transport; IMP:DFLAT.
GO; GO:0016339; P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; NAS:UniProtKB.
GO; GO:0050957; P:equilibrioception; IMP:HGNC.
GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
GO; GO:0060122; P:inner ear receptor stereocilium organization; IEA:InterPro.
GO; GO:0007626; P:locomotory behavior; IEA:InterPro.
GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC.
GO; GO:0051480; P:regulation of cytosolic calcium ion concentration; IMP:DFLAT.
GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
GO; GO:0050953; P:sensory perception of light stimulus; IMP:HGNC.
GO; GO:0007605; P:sensory perception of sound; IMP:HGNC.
GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
InterPro; IPR002126; Cadherin.
InterPro; IPR015919; Cadherin-like.
InterPro; IPR020894; Cadherin_CS.
InterPro; IPR033030; CDH23.
PANTHER; PTHR43956:SF3; PTHR43956:SF3; 1.
Pfam; PF00028; Cadherin; 24.
PRINTS; PR00205; CADHERIN.
SMART; SM00112; CA; 26.
SUPFAM; SSF49313; SSF49313; 27.
PROSITE; PS00232; CADHERIN_1; 17.
PROSITE; PS50268; CADHERIN_2; 27.
1: Evidence at protein level;
3D-structure; Alternative splicing; Calcium; Cell adhesion;
Cell membrane; Complete proteome; Deafness; Disease mutation;
Glycoprotein; Hearing; Membrane; Metal-binding;
Non-syndromic deafness; Polymorphism; Reference proteome; Repeat;
Retinitis pigmentosa; Sensory transduction; Signal; Transmembrane;
Transmembrane helix; Usher syndrome; Vision.
SIGNAL 1 23 {ECO:0000255}.
CHAIN 24 3354 Cadherin-23.
/FTId=PRO_0000003824.
TOPO_DOM 24 3064 Extracellular. {ECO:0000255}.
TRANSMEM 3065 3085 Helical. {ECO:0000255}.
TOPO_DOM 3086 3354 Cytoplasmic. {ECO:0000255}.
DOMAIN 34 132 Cadherin 1. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 133 236 Cadherin 2. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 237 348 Cadherin 3. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 349 460 Cadherin 4. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 461 561 Cadherin 5. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 562 671 Cadherin 6. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 672 784 Cadherin 7. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 779 890 Cadherin 8. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 891 995 Cadherin 9. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 996 1102 Cadherin 10. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1103 1208 Cadherin 11. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1210 1313 Cadherin 12. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1314 1418 Cadherin 13. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1420 1527 Cadherin 14. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1529 1634 Cadherin 15. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1635 1744 Cadherin 16. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1745 1851 Cadherin 17. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1852 1959 Cadherin 18. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 1960 2069 Cadherin 19. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2070 2174 Cadherin 20. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2175 2293 Cadherin 21. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2297 2402 Cadherin 22. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2403 2509 Cadherin 23. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2510 2611 Cadherin 24. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2614 2722 Cadherin 25. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2729 2846 Cadherin 26. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
DOMAIN 2847 2975 Cadherin 27. {ECO:0000255|PROSITE-
ProRule:PRU00043}.
CARBOHYD 155 155 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 206 206 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 349 349 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 393 393 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 434 434 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 466 466 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 472 472 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 652 652 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 694 694 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 765 765 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 810 810 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 827 827 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 941 941 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1001 1001 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1018 1018 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1171 1171 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1282 1282 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1315 1315 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1473 1473 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1534 1534 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1651 1651 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1667 1667 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1818 1818 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1857 1857 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1889 1889 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1902 1902 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2013 2013 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2050 2050 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2129 2129 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2168 2168 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2195 2195 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2263 2263 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2357 2357 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2369 2369 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2616 2616 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2749 2749 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2808 2808 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2877 2877 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2896 2896 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2941 2941 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2981 2981 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 2240 Missing (in isoform 7 and isoform 9).
{ECO:0000303|PubMed:15882574}.
/FTId=VSP_044260.
VAR_SEQ 1 24 MGRHVATSCHVAWLLVLISGCWGQ -> MRSWFQQDPMVGA
CTTGTRASHPK (in isoform 10 and isoform
11). {ECO:0000303|PubMed:15882574}.
/FTId=VSP_047923.
VAR_SEQ 25 3127 Missing (in isoform 10 and isoform 11).
{ECO:0000303|PubMed:15882574}.
/FTId=VSP_047924.
VAR_SEQ 143 143 E -> EVGATG (in isoform 8).
{ECO:0000305}.
/FTId=VSP_044261.
VAR_SEQ 379 380 Missing (in isoform 2 and isoform 8).
{ECO:0000305}.
/FTId=VSP_000645.
VAR_SEQ 484 530 ATDNDAGTFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYE
LIQRFT -> VSPRFTAGPLSSPGPTVVRHPEGFCPRDLSN
QGRRHPQIPELCLLVY (in isoform 5).
{ECO:0000303|PubMed:12975309,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_013268.
VAR_SEQ 531 3354 Missing (in isoform 5).
{ECO:0000303|PubMed:12975309,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_013269.
VAR_SEQ 1124 1212 LKATDADEGEFGRVWYRILHGNHGNNFRIHVSNGLLMRGPR
PLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVEDINDEA
PVFTQQQ -> EEDLASPCISPAPPRRAFQSSGEKETSQFP
GKELRREPGPSKAQNRAAFTEPLAEAPLLGSKQAQEERAPL
PREQAQQLQGSEGEKGGP (in isoform 6).
{ECO:0000303|PubMed:11347906}.
/FTId=VSP_035289.
VAR_SEQ 1213 3354 Missing (in isoform 6).
{ECO:0000303|PubMed:11347906}.
/FTId=VSP_035290.
VAR_SEQ 1403 1403 Missing (in isoform 3). {ECO:0000305}.
/FTId=VSP_000646.
VAR_SEQ 3212 3246 Missing (in isoform 4, isoform 9 and
isoform 11).
{ECO:0000303|PubMed:11597768,
ECO:0000303|PubMed:15882574}.
/FTId=VSP_000647.
VARIANT 3 3 R -> C (in dbSNP:rs7902757).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:12975309}.
/FTId=VAR_012166.
VARIANT 124 124 D -> G (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027317.
VARIANT 160 160 D -> N. {ECO:0000269|PubMed:22899989}.
/FTId=VAR_071407.
VARIANT 192 192 E -> Q. {ECO:0000269|PubMed:24916380}.
/FTId=VAR_072661.
VARIANT 240 240 P -> L (in DFNB12; dbSNP:rs121908354).
{ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_046404.
VARIANT 247 247 E -> K (in USH1D).
{ECO:0000269|PubMed:16679490}.
/FTId=VAR_027318.
VARIANT 301 301 R -> Q (in DFNB12).
{ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046405.
VARIANT 342 342 N -> S (in DFNB12).
{ECO:0000269|PubMed:24767429}.
/FTId=VAR_071408.
VARIANT 361 361 A -> S. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071409.
VARIANT 366 366 A -> T (in USH1D; dbSNP:rs143282422).
{ECO:0000269|PubMed:15660226,
ECO:0000269|PubMed:18429043}.
/FTId=VAR_024030.
VARIANT 424 424 V -> M. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071410.
VARIANT 428 428 D -> N. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071411.
VARIANT 452 452 N -> S (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027319.
VARIANT 480 480 L -> Q (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027320.
VARIANT 484 484 A -> P (in USH1D).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027321.
VARIANT 490 490 G -> A (in dbSNP:rs1227049).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012167.
VARIANT 496 496 S -> N (in dbSNP:rs10999947).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:11347906,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012168.
VARIANT 582 582 R -> Q (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027322.
VARIANT 746 746 V -> I. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046406.
VARIANT 755 755 H -> Y (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046407.
VARIANT 803 803 V -> I. {ECO:0000269|PubMed:22899989}.
/FTId=VAR_071412.
VARIANT 944 944 S -> G. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046408.
VARIANT 956 956 E -> K (in DFNB12).
{ECO:0000269|PubMed:22899989}.
/FTId=VAR_071413.
VARIANT 960 960 E -> K. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046409.
VARIANT 964 964 R -> Q. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071414.
VARIANT 990 990 D -> N (in DFNB12).
{ECO:0000269|PubMed:11090341}.
/FTId=VAR_012169.
VARIANT 1010 1010 R -> H. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071415.
VARIANT 1060 1060 R -> W (in DFNB12).
{ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:16679490}.
/FTId=VAR_027323.
VARIANT 1090 1090 V -> I (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046410.
VARIANT 1098 1098 N -> S (in USH1D; dbSNP:rs41281310).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046411.
VARIANT 1118 1118 G -> S. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071416.
VARIANT 1186 1186 G -> D (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027324.
VARIANT 1206 1206 P -> R (in USH1D).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027325.
VARIANT 1209 1209 T -> A (in USH1D; dbSNP:rs41281314).
{ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:15660226}.
/FTId=VAR_024031.
VARIANT 1222 1222 A -> T (in dbSNP:rs41281316).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043}.
/FTId=VAR_012170.
VARIANT 1236 1236 R -> Q. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046412.
VARIANT 1281 1281 Missing (in USH1D).
{ECO:0000269|PubMed:11138009}.
/FTId=VAR_012171.
VARIANT 1282 1282 N -> S. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046413.
VARIANT 1335 1335 V -> A. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071417.
VARIANT 1341 1341 D -> N (in DFNB12).
{ECO:0000269|PubMed:12522556}.
/FTId=VAR_027326.
VARIANT 1349 1349 R -> C (in dbSNP:rs41281318).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:18429043}.
/FTId=VAR_012172.
VARIANT 1351 1351 N -> D (in dbSNP:rs1227065).
{ECO:0000269|PubMed:11090341,
ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012173.
VARIANT 1368 1368 T -> M (in DFNB12).
{ECO:0000269|PubMed:22899989}.
/FTId=VAR_071418.
VARIANT 1415 1415 S -> I. {ECO:0000269|PubMed:22899989}.
/FTId=VAR_071419.
VARIANT 1417 1417 R -> W (in DFNB12).
{ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046414.
VARIANT 1437 1437 R -> Q (in dbSNP:rs56181447).
{ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_027327.
VARIANT 1443 1443 A -> G. {ECO:0000269|PubMed:22899989}.
/FTId=VAR_071420.
VARIANT 1496 1496 Q -> H (in USH1D).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:18429043}.
/FTId=VAR_012174.
VARIANT 1507 1507 R -> Q (in USH1D).
{ECO:0000269|PubMed:15660226}.
/FTId=VAR_024032.
VARIANT 1520 1520 I -> M. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046415.
VARIANT 1574 1574 M -> T. {ECO:0000269|PubMed:18429043}.
/FTId=VAR_046416.
VARIANT 1575 1575 A -> T (in dbSNP:rs1227051).
{ECO:0000269|PubMed:11090341,
ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012175.
VARIANT 1586 1586 A -> P (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027328.
VARIANT 1588 1588 R -> W. {ECO:0000269|PubMed:22899989,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_071421.
VARIANT 1595 1595 E -> K (in DFNB12).
{ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_027329.
VARIANT 1620 1620 V -> M (in dbSNP:rs41281330).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027330.
VARIANT 1626 1626 D -> A (in DFNB12).
{ECO:0000269|PubMed:22899989}.
/FTId=VAR_071422.
VARIANT 1671 1671 T -> S. {ECO:0000269|PubMed:11138009}.
/FTId=VAR_012176.
VARIANT 1675 1675 V -> I (in dbSNP:rs17712523).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012177.
VARIANT 1711 1711 V -> I. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046417.
VARIANT 1716 1716 Q -> P (in DFNB12).
{ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046418.
VARIANT 1746 1746 R -> Q (in USH1D; mild retinal
affection).
{ECO:0000269|PubMed:11138009}.
/FTId=VAR_012178.
VARIANT 1788 1788 P -> L (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046419.
VARIANT 1804 1804 R -> Q (in dbSNP:rs3802711).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012179.
VARIANT 1806 1806 D -> E. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071423.
VARIANT 1807 1807 V -> M. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046420.
VARIANT 1846 1846 D -> N (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027331.
VARIANT 1876 1876 S -> N. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046421.
VARIANT 1887 1887 T -> I. {ECO:0000269|PubMed:12075507}.
/FTId=VAR_027332.
VARIANT 1888 1888 F -> S (in DFNB12).
{ECO:0000269|PubMed:15829536}.
/FTId=VAR_027333.
VARIANT 1908 1908 V -> I. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046422.
VARIANT 1912 1912 R -> W (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046423.
VARIANT 1930 1930 D -> N (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046424.
VARIANT 1999 1999 T -> S (in dbSNP:rs11592462).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012180.
VARIANT 2017 2017 G -> S (in USH1D; most likely affects
splicing). {ECO:0000269|PubMed:16679490,
ECO:0000269|PubMed:18429043}.
/FTId=VAR_027334.
VARIANT 2029 2029 R -> W (in DFNB12).
{ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046425.
VARIANT 2044 2044 E -> K (in dbSNP:rs10466026).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012181.
VARIANT 2045 2045 D -> N (in DFNB12).
{ECO:0000269|PubMed:11090341}.
/FTId=VAR_012182.
VARIANT 2066 2066 R -> Q. {ECO:0000269|PubMed:12075507}.
/FTId=VAR_027335.
VARIANT 2125 2125 I -> M (in dbSNP:rs16929354).
/FTId=VAR_046426.
VARIANT 2130 2130 A -> V. {ECO:0000269|PubMed:22899989}.
/FTId=VAR_071424.
VARIANT 2148 2148 D -> N (in DFNB12).
{ECO:0000269|PubMed:12522556}.
/FTId=VAR_027336.
VARIANT 2171 2171 R -> C. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046427.
VARIANT 2202 2202 D -> N (in DFNB12).
{ECO:0000269|PubMed:11090341}.
/FTId=VAR_012183.
VARIANT 2227 2227 Q -> P. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046428.
VARIANT 2283 2283 V -> I (in dbSNP:rs41281334).
{ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:12522556,
ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_027337.
VARIANT 2287 2287 N -> K (in DFNB12).
{ECO:0000269|PubMed:22899989}.
/FTId=VAR_071425.
VARIANT 2358 2358 R -> Q (in dbSNP:rs4747194).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:12522556,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012184.
VARIANT 2376 2376 D -> N (in dbSNP:rs9663920).
/FTId=VAR_027338.
VARIANT 2376 2376 D -> V (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046429.
VARIANT 2380 2380 P -> L (in dbSNP:rs4747195).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:12522556,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012185.
VARIANT 2438 2438 E -> K (in DFNB12).
{ECO:0000269|PubMed:22899989}.
/FTId=VAR_071426.
VARIANT 2465 2465 R -> W (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027339.
VARIANT 2473 2473 L -> P. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046430.
VARIANT 2489 2489 R -> H. {ECO:0000269|PubMed:17850630}.
/FTId=VAR_046431.
VARIANT 2517 2517 S -> G (in USH1D).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027340.
VARIANT 2530 2530 T -> I (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046432.
VARIANT 2531 2531 M -> V. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071427.
VARIANT 2588 2588 E -> Q (in dbSNP:rs41281338).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:12075507,
ECO:0000269|PubMed:18429043}.
/FTId=VAR_012186.
VARIANT 2608 2608 R -> H (in DFNB12).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027341.
VARIANT 2669 2669 I -> V. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046433.
VARIANT 2744 2744 G -> S (in USH1D; atypical).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027342.
VARIANT 2771 2771 G -> S (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046434.
VARIANT 2801 2801 F -> V (in dbSNP:rs3802707).
{ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_046435.
VARIANT 2833 2833 R -> G (in USH1D; atypical).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027343.
VARIANT 2853 2853 A -> Q (requires 2 nucleotide
substitutions).
/FTId=VAR_046436.
VARIANT 2912 2912 G -> S. {ECO:0000269|PubMed:22899989}.
/FTId=VAR_071428.
VARIANT 2933 2933 V -> E. {ECO:0000269|PubMed:12075507}.
/FTId=VAR_027344.
VARIANT 2950 2950 I -> N (in DFNB12).
{ECO:0000269|PubMed:11090341}.
/FTId=VAR_012187.
VARIANT 2954 2954 D -> N. {ECO:0000269|PubMed:12075507}.
/FTId=VAR_027345.
VARIANT 2956 2956 R -> C (in DFNB12).
{ECO:0000269|PubMed:11090341}.
/FTId=VAR_012188.
VARIANT 2962 2962 N -> S. {ECO:0000269|PubMed:12075507}.
/FTId=VAR_027346.
VARIANT 2968 2968 V -> A (in USH1D).
{ECO:0000269|PubMed:18429043}.
/FTId=VAR_046437.
VARIANT 3059 3059 P -> T (in DFNB12).
{ECO:0000269|PubMed:11090341}.
/FTId=VAR_012189.
VARIANT 3062 3062 M -> T. {ECO:0000269|PubMed:24916380}.
/FTId=VAR_072662.
VARIANT 3080 3080 A -> T. {ECO:0000269|PubMed:24767429}.
/FTId=VAR_071429.
VARIANT 3125 3125 F -> L (in dbSNP:rs45583140).
{ECO:0000269|PubMed:11138009,
ECO:0000269|PubMed:18429043,
ECO:0000269|PubMed:24767429}.
/FTId=VAR_012190.
VARIANT 3175 3175 R -> C. {ECO:0000269|PubMed:17850630,
ECO:0000269|PubMed:22899989}.
/FTId=VAR_046438.
VARIANT 3175 3175 R -> H (in USH1D).
{ECO:0000269|PubMed:12075507}.
/FTId=VAR_027347.
VARIANT 3189 3189 R -> W (in USH1D and USH1DF).
{ECO:0000269|PubMed:15537665,
ECO:0000269|PubMed:15660226}.
/FTId=VAR_024033.
VARIANT 3245 3245 S -> F (in USH1D).
{ECO:0000269|PubMed:15660226}.
/FTId=VAR_024034.
CONFLICT 985 985 V -> L (in Ref. 7; AAG27034).
{ECO:0000305}.
CONFLICT 1403 1403 K -> V (in Ref. 7; AAG27034).
{ECO:0000305}.
CONFLICT 2173 2236 EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG
IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE
EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS
QAEPGLVWS (in Ref. 8; BAB61902).
{ECO:0000305}.
HELIX 3187 3198 {ECO:0000244|PDB:2KBR}.
HELIX 3214 3226 {ECO:0000244|PDB:2LSR}.
STRAND 3351 3353 {ECO:0000244|PDB:2KBS}.
SEQUENCE 3354 AA; 369494 MW; 1B68045A7FFA97BA CRC64;
MGRHVATSCH VAWLLVLISG CWGQVNRLPF FTNHFFDTYL LISEDTPVGS SVTQLLAQDM
DNDPLVFGVS GEEASRFFAV EPDTGVVWLR QPLDRETKSE FTVEFSVSDH QGVITRKVNI
QVGDVNDNAP TFHNQPYSVR IPENTPVGTP IFIVNATDPD LGAGGSVLYS FQPPSQFFAI
DSARGIVTVI RELDYETTQA YQLTVNATDQ DKTRPLSTLA NLAIIITDVQ DMDPIFINLP
YSTNIYEHSP PGTTVRIITA IDQDKGRPRG IGYTIVSGNT NSIFALDYIS GVLTLNGLLD
RENPLYSHGF ILTVKGTELN DDRTPSDATV TTTFNILVID INDNAPEFNS SEYSVAITEL
AQVGFALPLF IQVVDKDENL GLNSMFEVYL VGNNSHHFII SPTSVQGKAD IRIRVAIPLD
YETVDRYDFD LFANESVPDH VGYAKVKITL INENDNRPIF SQPLYNISLY ENVTVGTSVL
TVLATDNDAG TFGEVSYFFS DDPDRFSLDK DTGLIMLIAR LDYELIQRFT LTIIARDGGG
EETTGRVRIN VLDVNDNVPT FQKDAYVGAL RENEPSVTQL VRLRATDEDS PPNNQITYSI
VSASAFGSYF DISLYEGYGV ISVSRPLDYE QISNGLIYLT VMAMDAGNPP LNSTVPVTIE
VFDENDNPPT FSKPAYFVSV VENIMAGATV LFLNATDLDR SREYGQESII YSLEGSTQFR
INARSGEITT TSLLDRETKS EYILIVRAVD GGVGHNQKTG IATVNITLLD INDNHPTWKD
APYYINLVEM TPPDSDVTTV VAVDPDLGEN GTLVYSIQPP NKFYSLNSTT GKIRTTHAML
DRENPDPHEA ELMRKIVVSV TDCGRPPLKA TSSATVFVNL LDLNDNDPTF QNLPFVAEVL
EGIPAGVSIY QVVAIDLDEG LNGLVSYRMP VGMPRMDFLI NSSSGVVVTT TELDRERIAE
YQLRVVASDA GTPTKSSTST LTIHVLDVND ETPTFFPAVY NVSVSEDVPR EFRVVWLNCT
DNDVGLNAEL SYFITGGNVD GKFSVGYRDA VVRTVVGLDR ETTAAYMLIL EAIDNGPVGK
RHTGTATVFV TVLDVNDNRP IFLQSSYEAS VPEDIPEGHS ILQLKATDAD EGEFGRVWYR
ILHGNHGNNF RIHVSNGLLM RGPRPLDRER NSSHVLIVEA YNHDLGPMRS SVRVIVYVED
INDEAPVFTQ QQYSRLGLRE TAGIGTSVIV VQATDRDSGD GGLVNYRILS GAEGKFEIDE
STGLIITVNY LDYETKTSYM MNVSATDQAP PFNQGFCSVY ITLLNELDEA VQFSNASYEA
AILENLALGT EIVRVQAYSI DNLNQITYRF NAYTSTQAKA LFKIDAITGV ITVQGLVDRE
KGDFYTLTVV ADDGGPKVDS TVKVYITVLD ENDNSPRFDF TSDSAVSIPE DCPVGQRVAT
VKAWDPDAGS NGQVVFSLAS GNIAGAFEIV TTNDSIGEVF VARPLDREEL DHYILQVVAS
DRGTPPRKKD HILQVTILDI NDNPPVIESP FGYNVSVNEN VGGGTAVVQV RATDRDIGIN
SVLSYYITEG NKDMAFRMDR ISGEIATRPA PPDRERQSFY HLVATVEDEG TPTLSATTHV
YVTIVDENDN APMFQQPHYE VLLDEGPDTL NTSLITIQAL DLDEGPNGTV TYAIVAGNIV
NTFRIDRHMG VITAAKELDY EISHGRYTLI VTATDQCPIL SHRLTSTTTV LVNVNDINDN
VPTFPRDYEG PFEVTEGQPG PRVWTFLAHD RDSGPNGQVE YSIMDGDPLG EFVISPVEGV
LRVRKDVELD RETIAFYNLT ICARDRGMPP LSSTMLVGIR VLDINDNDPV LLNLPMNITI
SENSPVSSFV AHVLASDADS GCNARLTFNI TAGNRERAFF INATTGIVTV NRPLDRERIP
EYKLTISVKD NPENPRIARR DYDLLLIFLS DENDNHPLFT KSTYQAEVME NSPAGTPLTV
LNGPILALDA DQDIYAVVTY QLLGAQSGLF DINSSTGVVT VRSGVIIDRE AFSPPILELL
LLAEDIGLLN STAHLLITIL DDNDNRPTFS PATLTVHLLE NCPPGFSVLQ VTATDEDSGL
NGELVYRIEA GAQDRFLIHL VTGVIRVGNA TIDREEQESY RLTVVATDRG TVPLSGTAIV
TILIDDINDS RPEFLNPIQT VSVLESAEPG TVIANITAID HDLNPKLEYH IVGIVAKDDT
DRLVPNQEDA FAVNINTGSV MVKSPMNREL VATYEVTLSV IDNASDLPER SVSVPNAKLT
VNVLDVNDNT PQFKPFGITY YMERILEGAT PGTTLIAVAA VDPDKGLNGL VTYTLLDLVP
PGYVQLEDSS AGKVIANRTV DYEEVHWLNF TVRASDNGSP PRAAEIPVYL EIVDINDNNP
IFDQPSYQEA VFEDVPVGTI ILTVTATDAD SGNFALIEYS LGDGESKFAI NPTTGDIYVL
SSLDREKKDH YILTALAKDN PGDVASNRRE NSVQVVIQVL DVNDCRPQFS KPQFSTSVYE
NEPAGTSVIT MMATDQDEGP NGELTYSLEG PGVEAFHVDM DSGLVTTQRP LQSYEKFSLT
VVATDGGEPP LWGTTMLLVE VIDVNDNRPV FVRPPNGTIL HIREEIPLRS NVYEVYATDK
DEGLNGAVRY SFLKTAGNRD WEFFIIDPIS GLIQTAQRLD RESQAVYSLI LVASDLGQPV
PYETMQPLQV ALEDIDDNEP LFVRPPKGSP QYQLLTVPEH SPRGTLVGNV TGAVDADEGP
NAIVYYFIAA GNEEKNFHLQ PDGCLLVLRD LDREREAIFS FIVKASSNRS WTPPRGPSPT
LDLVADLTLQ EVRVVLEDIN DQPPRFTKAE YTAGVATDAK VGSELIQVLA LDADIGNNSL
VFYSILAIHY FRALANDSED VGQVFTMGSM DGILRTFDLF MAYSPGYFVV DIVARDLAGH
NDTAIIGIYI LRDDQRVKIV INEIPDRVRG FEEEFIHLLS NITGAIVNTD NVQFHVDKKG
RVNFAQTELL IHVVNRDTNR ILDVDRVIQM IDENKEQLRN LFRNYNVLDV QPAISVRLPD
DMSALQMAII VLAILLFLAA MLFVLMNWYY RTVHKRKLKA IVAGSAGNRG FIDIMDMPNT
NKYSFDGANP VWLDPFCRNL ELAAQAEHED DLPENLSEIA DLWNSPTRTH GTFGREPAAV
KPDDDRYLRA AIQEYDNIAK LGQIIREGPI KGSLLKVVLE DYLRLKKLFA QRMVQKASSC
HSSISELIQT ELDEEPGDHS PGQGSLRFRH KPPVELKGPD GIHVVHGSTG TLLATDLNSL
PEEDQKGLGR SLETLTAAEA TAFERNARTE SAKSTPLHKL RDVIMETPLE ITEL


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