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Peripherin-2 (Retinal degeneration slow protein) (Tetraspanin-22) (Tspan-22)

 PRPH2_HUMAN             Reviewed;         346 AA.
P23942; Q5TFH5; Q6DK65;
01-MAR-1992, integrated into UniProtKB/Swiss-Prot.
01-MAR-1992, sequence version 1.
20-JUN-2018, entry version 173.
RecName: Full=Peripherin-2;
AltName: Full=Retinal degeneration slow protein;
AltName: Full=Tetraspanin-22;
Short=Tspan-22;
Name=PRPH2; Synonyms=PRPH, RDS, TSPAN22;
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=1679750; DOI=10.1016/0888-7543(91)90457-P;
Travis G.H., Christerson L., Danielson P.E., Klisak I., Sparkes R.S.,
Hahn L.B., Dryja T.P., Sutcliffe G.J.;
"The human retinal degeneration slow (RDS) gene: chromosome assignment
and structure of the mRNA.";
Genomics 10:733-739(1991).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Kajiwara K.;
Submitted (FEB-1994) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS GLN-304;
ARG-310 AND ASP-338.
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
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).
[5]
REVIEW ON VARIANTS.
PubMed=8956033;
DOI=10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.3.CO;2-H;
Keen T.J., Inglehearn C.F.;
"Mutations and polymorphisms in the human peripherin-RDS gene and
their involvement in inherited retinal degeneration.";
Hum. Mutat. 8:297-303(1996).
[6]
VARIANT RP7 CYS-118 DEL.
PubMed=1749427; DOI=10.1038/354478a0;
Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M.,
Sharp E.M., Sheils D.M., Humphries P.;
"A three-base-pair deletion in the peripherin-RDS gene in one form of
retinitis pigmentosa.";
Nature 354:478-480(1991).
[7]
VARIANTS RP7 PRO-185; LEU-216 AND PRO-219 DEL.
PubMed=1684223; DOI=10.1038/354480a0;
Kajiwara K., Hahn L.B., Mukai S., Travis G.H., Berson E.L.,
Dryja T.P.;
"Mutations in the human retinal degeneration slow gene in autosomal
dominant retinitis pigmentosa.";
Nature 354:480-483(1991).
[8]
VARIANT RP7 GLY-212.
PubMed=1427912; DOI=10.1016/S0888-7543(05)80193-4;
Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M.,
Sharp E.M., Sheils D.M., Humphries P.;
"Autosomal dominant retinitis pigmentosa: a novel mutation at the
peripherin/RDS locus in the original 6p-linked pedigree.";
Genomics 14:805-807(1992).
[9]
ERRATUM.
PubMed=8449524;
Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M.,
Sharp E.M., Sheils D.M., Humphries P.;
Genomics 15:466-466(1993).
[10]
VARIANT MDPT1 ASP-167.
PubMed=8485574; DOI=10.1038/ng0393-202;
Nichols B.E., Sheffield V.C., Vandenburgh K., Drack A.V., Kimura A.E.,
Stone E.M.;
"Butterfly-shaped pigment dystrophy of the fovea caused by a point
mutation in codon 167 of the RDS gene.";
Nat. Genet. 3:202-207(1993).
[11]
VARIANTS GLN-172 AND TRP-172.
PubMed=8485576; DOI=10.1038/ng0393-213;
Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A.,
Jay M., Arden G., Bhattacharya S., Fitzke F.;
"Mutations in the human retinal degeneration slow (RDS) gene can cause
either retinitis pigmentosa or macular dystrophy.";
Nat. Genet. 3:213-218(1993).
[12]
VARIANT FOVEOMACULAR DYSTROPHY ARG-210.
PubMed=7519821;
Feist R.M., White M.F. Jr., Skalka H., Stone E.M.;
"Choroidal neovascularization in a patient with adult foveomacular
dystrophy and a mutation in the retinal degeneration slow gene (Pro
210 Arg).";
Am. J. Ophthalmol. 118:259-260(1994).
[13]
VARIANT RP7 LYS-244.
PubMed=8020945; DOI=10.1006/geno.1994.1142;
Kikawa E., Nakazawa M., Chida Y., Shiono T., Tamai M.;
"A novel mutation (Asn244Lys) in the peripherin/RDS gene causing
autosomal dominant retinitis pigmentosa associated with bull's-eye
maculopathy detected by nonradioisotopic SSCP.";
Genomics 20:137-139(1994).
[14]
VARIANT TRP-172.
PubMed=7493155; DOI=10.3109/13816819509056911;
Reig C., Serra A., Gean E., Vidal M., Arumi J., De la Calzada M.D.,
Antich J., Carballo M.;
"A point mutation in the RDS-peripherin gene in a Spanish family with
central areolar choroidal dystrophy.";
Ophthalmic Genet. 16:39-44(1995).
[15]
ERRATUM.
Reig C., Serra A., Gean E., Vidal M., Arumi J., De la Calzada M.D.,
Antich J., Carballo M.;
Ophthalmic Genet. 16:179-179(1995).
[16]
VARIANT RP7 ARG-210.
PubMed=7862413; DOI=10.1016/S0161-6420(95)31029-9;
Gorin M.B., Jackson K.E., Ferrell R.E., Sheffield V.C., Jacobson S.G.,
Gass J.D., Mitchell E., Stone E.M.;
"A peripherin/retinal degeneration slow mutation (Pro-210-Arg)
associated with macular and peripheral retinal degeneration.";
Ophthalmology 102:246-255(1995).
[17]
VARIANTS VMD3 THR-212; ILE-268 AND ASP-305.
PubMed=9338584;
DOI=10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J;
Felbor U., Schilling H., Weber B.H.F.;
"Adult vitelliform macular dystrophy is frequently associated with
mutations in the peripherin/RDS gene.";
Hum. Mutat. 10:301-309(1997).
[18]
VARIANTS MDPT1 ARG-210; ARG-213 AND TRP-220, AND VARIANTS MACULAR
DYSTROPHY TRP-172 AND ARG-219.
PubMed=9443872; DOI=10.1086/301679;
Payne A.M., Downes S.M., Bessant D.A.R., Bird A.C., Bhattacharya S.S.;
"Founder effect, seen in the British population, of the 172
peripherin/RDS mutation- and further refinement of genetic positioning
of the peripherin/RDS gene.";
Am. J. Hum. Genet. 62:192-195(1998).
[19]
VARIANT LEU-313.
Ruiz A., Borrego S., Sanchez J., Antinolo G.;
"P313L: a novel amino acid substitution within the C-terminal domain
of the human RDS/peripherin gene.";
Hum. Mutat. 11:415-416(1998).
[20]
VARIANT RP7 ASP-208.
PubMed=10627133;
DOI=10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M;
Trujillo M.J., Bueno J., Osorio A., Sanz R., Garcia-Sandoval B.,
Ramos C., Ayuso C.;
"Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in
Spanish families affected with autosomal dominant retinal
degenerations.";
Hum. Mutat. 12:70-70(1998).
[21]
VARIANT RP7 LEU-210, AND VARIANTS GLN-304 AND ASP-338.
PubMed=11485765; DOI=10.1016/S0021-5155(01)00334-3;
Budu M.M., Hayasaka S., Yamada T., Zhang X.Y., Hayasaka Y.;
"Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in
Japanese patients with retinal dystrophies.";
Jpn. J. Ophthalmol. 45:355-358(2001).
[22]
VARIANT MACULAR DYSTROPHY ASN-169 DEL.
PubMed=14557182; DOI=10.1001/archopht.121.10.1452;
van Lith-Verhoeven J.J., van den Helm B., Deutman A.F., Bergen A.A.,
Cremers F.P., Hoyng C.B., de Jong P.T.;
"A peculiar autosomal dominant macular dystrophy caused by an
asparagine deletion at codon 169 in the peripherin/RDS gene.";
Arch. Ophthalmol. 121:1452-1457(2003).
[23]
VARIANT VMD3 CYS-141.
PubMed=15370544; DOI=10.1080/13816810490514388;
Yang Z., Li Y., Jiang L., Karan G., Moshfeghi D., O'Connor S., Li X.,
Yu Z., Lewis H., Zack D., Jacobson S., Zhang K.;
"A novel RDS/peripherin gene mutation associated with diverse macular
phenotypes.";
Ophthalmic Genet. 25:133-145(2004).
[24]
VARIANT MDPT1 SER-167.
PubMed=16024869; DOI=10.1136/bjo.2004.064188;
Testa F., Marini V., Rossi S., Interlandi E., Nesti A., Rinaldi M.,
Varano M., Garre C., Simonelli F.;
"A novel mutation in the RDS gene in an Italian family with pattern
dystrophy.";
Br. J. Ophthalmol. 89:1066-1068(2005).
[25]
VARIANT CACD2 LEU-195.
PubMed=16832026; DOI=10.1001/archopht.124.7.1020;
Keilhauer C.N., Meigen T., Weber B.H.;
"Clinical findings in a multigeneration family with autosomal dominant
central areolar choroidal dystrophy associated with an Arg195Leu
mutation in the peripherin/RDS gene.";
Arch. Ophthalmol. 124:1020-1027(2006).
[26]
VARIANT SER-137, AND VARIANTS RP7 CYS-141; ARG-198 AND ARG-216.
PubMed=16799052; DOI=10.1167/iovs.05-1443;
Sullivan L.S., Bowne S.J., Birch D.G., Hughbanks-Wheaton D.,
Heckenlively J.R., Lewis R.A., Garcia C.A., Ruiz R.S., Blanton S.H.,
Northrup H., Gire A.I., Seaman R., Duzkale H., Spellicy C.J., Zhu J.,
Shankar S.P., Daiger S.P.;
"Prevalence of disease-causing mutations in families with autosomal
dominant retinitis pigmentosa: a screen of known genes in 200
families.";
Invest. Ophthalmol. Vis. Sci. 47:3052-3064(2006).
[27]
VARIANTS VMD3 PHE-213 AND 237-ASP--THR-240 DEL.
PubMed=17653047;
Gamundi M.J., Hernan I., Muntanyola M., Trujillo M.J.,
Garcia-Sandoval B., Ayuso C., Baiget M., Carballo M.;
"High prevalence of mutations in peripherin/RDS in autosomal dominant
macular dystrophies in a Spanish population.";
Mol. Vis. 13:1031-1037(2007).
[28]
VARIANTS CACD2 TRP-123 AND LEU-221, AND VARIANTS RP7 PRO-126; ALA-216
AND SER-249.
PubMed=19038374; DOI=10.1016/j.ajo.2008.09.007;
Renner A.B., Fiebig B.S., Weber B.H., Wissinger B., Andreasson S.,
Gal A., Cropp E., Kohl S., Kellner U.;
"Phenotypic variability and long-term follow-up of patients with known
and novel PRPH2/RDS gene mutations.";
Am. J. Ophthalmol. 147:518-530(2009).
[29]
VARIANTS VMD3 PHE-45 AND ILE-209, AND VARIANT CACD2 LEU-195.
PubMed=20213611;
Coco R.M., Telleria J.J., Sanabria M.R., Rodriguez-Rua E.,
Garcia M.T.;
"PRPH2 (Peripherin/RDS) mutations associated with different macular
dystrophies in a Spanish population: a new mutation.";
Eur. J. Ophthalmol. 20:724-732(2010).
[30]
VARIANT RP7 TRP-142.
PubMed=22334370; DOI=10.1002/humu.22045;
Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L.,
Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J.,
Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U.,
Branham K.E., den Hollander A.I., Hoischen A., Hoyng C.,
Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P.,
Scheffer H.;
"Next-generation genetic testing for retinitis pigmentosa.";
Hum. Mutat. 33:963-972(2012).
[31]
CHARACTERIZATION OF VARIANTS RP7 ARG-198; LEU-210; SER-214 AND
SER-249, CHARACTERIZATION OF VARIANT CACD2 LEU-195, CHARACTERIZATION
OF VARIANT VMD3 ILE-209, AND CHARACTERIZATION OF VARIANT MDPT1
GLN-220.
PubMed=26796962; DOI=10.1371/journal.pgen.1005811;
Becirovic E., Boehm S., Nguyen O.N., Riedmayr L.M., Koch M.A.,
Schulze E., Kohl S., Borsch O., Santos-Ferreira T., Ader M.,
Michalakis S., Biel M.;
"In vivo analysis of disease-associated point mutations unveils
profound differences in mRNA splicing of peripherin-2 in rod and cone
photoreceptors.";
PLoS Genet. 12:E1005811-E1005811(2016).
-!- FUNCTION: May function as an adhesion molecule involved in
stabilization and compaction of outer segment disks or in the
maintenance of the curvature of the rim. It is essential for disk
morphogenesis.
-!- SUBUNIT: Homodimer; disulfide-linked. Probably forms a complex
with a ROM1 homodimer. Other proteins could associate with this
complex in rods. Interacts with MREG.
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- TISSUE SPECIFICITY: Retina (photoreceptor). In rim region of ROS
(rod outer segment) disks.
-!- DISEASE: Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal
dystrophy belonging to the group of pigmentary retinopathies.
Retinitis pigmentosa is characterized by retinal pigment deposits
visible on fundus examination and primary loss of rod
photoreceptor cells followed by secondary loss of cone
photoreceptors. Patients typically have night vision blindness and
loss of midperipheral visual field. As their condition progresses,
they lose their far peripheral visual field and eventually central
vision as well. {ECO:0000269|PubMed:10627133,
ECO:0000269|PubMed:11485765, ECO:0000269|PubMed:1427912,
ECO:0000269|PubMed:16799052, ECO:0000269|PubMed:1684223,
ECO:0000269|PubMed:1749427, ECO:0000269|PubMed:19038374,
ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:26796962,
ECO:0000269|PubMed:7862413, ECO:0000269|PubMed:8020945}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Retinitis punctata albescens (RPA) [MIM:136880]: A form
of fleck retina disease characterized by aggregation of white
flecks posteriorly in the retina, causing night blindness and
delayed dark adaptation. It differs from fundus albipunctatus in
being progressive and evolving to generalized atrophy of the
retina. Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]: A
form of vitelliform macular dystrophy, a retinal disease
characterized by yellow, lipofuscin-containing deposits, usually
localized at the center of the macula. Patients usually become
symptomatic in the fourth or fifth decade of life with a
protracted disease of decreased visual acuity.
{ECO:0000269|PubMed:15370544, ECO:0000269|PubMed:17653047,
ECO:0000269|PubMed:20213611, ECO:0000269|PubMed:26796962,
ECO:0000269|PubMed:9338584}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]: A
form of retinal patterned dystrophy, a heterogeneous group of
macular disorders that includes reticular (fishnet-like)
dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-
shaped pigment dystrophy. {ECO:0000269|PubMed:16024869,
ECO:0000269|PubMed:26796962, ECO:0000269|PubMed:8485574,
ECO:0000269|PubMed:9443872}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Choroidal dystrophy, central areolar 2 (CACD2)
[MIM:613105]: A form of central areolar choroidal dystrophy, a
retinal disease that affects the macula and results in a well-
demarcated circumscribed area of atrophy of the pigment epithelium
and choriocapillaris. {ECO:0000269|PubMed:16832026,
ECO:0000269|PubMed:19038374, ECO:0000269|PubMed:20213611,
ECO:0000269|PubMed:26796962}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Note=Defects in PRPH2 are found in different retinal
diseases including cone-rod dystrophy, retinitis pigmentosa,
macular degeneration. The mutations underlying autosomal dominant
retinitis pigmentosa and severe macular degeneration are largely
missense or small in-frame deletions in a large intradiscal loop
between the third and fourth transmembrane domains. In contrast,
those associated with the milder pattern phenotypes or with
digenic RP are scattered more evenly through the gene and are
often nonsense mutations. This observation correlates with the
hypothesis that the large loop is an important site of interaction
between PRPH2 molecules and other protein components in the disk.
-!- SIMILARITY: Belongs to the PRPH2/ROM1 family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Mutations of the RDS gene; Note=Retina
International's Scientific Newsletter;
URL="http://www.retina-international.org/files/sci-news/rdsmut.htm";
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EMBL; M73531; AAA60260.1; -; mRNA.
EMBL; U07149; AAA16958.1; -; Genomic_DNA.
EMBL; U07147; AAA16958.1; JOINED; Genomic_DNA.
EMBL; U07148; AAA16958.1; JOINED; Genomic_DNA.
EMBL; AL049843; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC074720; AAH74720.1; -; mRNA.
CCDS; CCDS4871.1; -.
PIR; A40308; A40308.
RefSeq; NP_000313.2; NM_000322.4.
UniGene; Hs.654489; -.
ProteinModelPortal; P23942; -.
STRING; 9606.ENSP00000230381; -.
TCDB; 8.A.40.1.3; the tetraspanin (tetraspanin) family.
iPTMnet; P23942; -.
PhosphoSitePlus; P23942; -.
BioMuta; PRPH2; -.
DMDM; 132212; -.
PaxDb; P23942; -.
PeptideAtlas; P23942; -.
PRIDE; P23942; -.
ProteomicsDB; 54167; -.
DNASU; 5961; -.
Ensembl; ENST00000230381; ENSP00000230381; ENSG00000112619.
GeneID; 5961; -.
KEGG; hsa:5961; -.
UCSC; uc003osk.4; human.
CTD; 5961; -.
DisGeNET; 5961; -.
EuPathDB; HostDB:ENSG00000112619.7; -.
GeneCards; PRPH2; -.
GeneReviews; PRPH2; -.
H-InvDB; HIX0025091; -.
HGNC; HGNC:9942; PRPH2.
HPA; HPA029458; -.
MalaCards; PRPH2; -.
MIM; 136880; phenotype.
MIM; 169150; phenotype.
MIM; 179605; gene.
MIM; 268000; phenotype.
MIM; 608133; phenotype.
MIM; 608161; phenotype.
MIM; 613105; phenotype.
neXtProt; NX_P23942; -.
Orphanet; 99000; Adult-onset foveomacular vitelliform dystrophy.
Orphanet; 99001; Butterfly-shaped pigment dystrophy.
Orphanet; 75377; Central areolar choroidal dystrophy.
Orphanet; 1872; Cone rod dystrophy.
Orphanet; 227796; Fundus albipunctatus.
Orphanet; 791; Retinitis pigmentosa.
Orphanet; 52427; Retinitis punctata albescens.
PharmGKB; PA34310; -.
eggNOG; KOG3882; Eukaryota.
eggNOG; ENOG4111IRY; LUCA.
HOGENOM; HOG000026780; -.
HOVERGEN; HBG004964; -.
InParanoid; P23942; -.
KO; K17343; -.
OrthoDB; EOG091G0956; -.
PhylomeDB; P23942; -.
TreeFam; TF331684; -.
ChiTaRS; PRPH2; human.
GeneWiki; Peripherin_2; -.
GenomeRNAi; 5961; -.
PRO; PR:P23942; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000112619; -.
CleanEx; HS_PRPH; -.
CleanEx; HS_PRPH2; -.
Genevisible; P23942; HS.
GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0001750; C:photoreceptor outer segment; IEA:Ensembl.
GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
Gene3D; 1.10.1450.10; -; 1.
InterPro; IPR000830; Peripherin/rom-1.
InterPro; IPR018498; Peripherin/rom-1_CS.
InterPro; IPR018499; Tetraspanin/Peripherin.
InterPro; IPR008952; Tetraspanin_EC2_sf.
Pfam; PF00335; Tetraspannin; 1.
PRINTS; PR00218; PERIPHERNRDS.
SUPFAM; SSF48652; SSF48652; 2.
PROSITE; PS00930; RDS_ROM1; 1.
1: Evidence at protein level;
Cell adhesion; Complete proteome; Cone-rod dystrophy;
Disease mutation; Disulfide bond; Glycoprotein; Membrane;
Polymorphism; Reference proteome; Retinitis pigmentosa; Transmembrane;
Transmembrane helix.
CHAIN 1 346 Peripherin-2.
/FTId=PRO_0000168105.
TOPO_DOM 1 24 Cytoplasmic. {ECO:0000255}.
TRANSMEM 25 43 Helical. {ECO:0000255}.
TOPO_DOM 44 61 Lumenal. {ECO:0000255}.
TRANSMEM 62 80 Helical. {ECO:0000255}.
TOPO_DOM 81 99 Cytoplasmic. {ECO:0000255}.
TRANSMEM 100 123 Helical. {ECO:0000255}.
TOPO_DOM 124 264 Lumenal. {ECO:0000255}.
TRANSMEM 265 290 Helical. {ECO:0000255}.
TOPO_DOM 291 346 Cytoplasmic. {ECO:0000255}.
REGION 341 346 Interaction with MREG. {ECO:0000250}.
CARBOHYD 53 53 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 229 229 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 13 13 R -> W (in RP7; in combination with a
null mutation of ROM1).
/FTId=VAR_006853.
VARIANT 32 32 I -> V (in some patients with macular
dystrophy).
/FTId=VAR_006854.
VARIANT 45 45 L -> F (in RP7 and VMD3; results in
retinitis pigmentosa in combination with
a null mutation of ROM1;
dbSNP:rs61755770).
{ECO:0000269|PubMed:20213611}.
/FTId=VAR_006855.
VARIANT 67 67 Missing (in MDPT1; also in cone-rod
dystrophy).
/FTId=VAR_006856.
VARIANT 68 68 G -> R (in MDPT1; also in cone-rod
dystrophy).
/FTId=VAR_006857.
VARIANT 118 118 Missing (in RP7).
{ECO:0000269|PubMed:1749427}.
/FTId=VAR_006858.
VARIANT 123 123 R -> W (in CACD2).
{ECO:0000269|PubMed:19038374}.
/FTId=VAR_075758.
VARIANT 126 126 L -> P (in RP7).
{ECO:0000269|PubMed:19038374}.
/FTId=VAR_075759.
VARIANT 126 126 L -> R (in RP7).
/FTId=VAR_006859.
VARIANT 137 137 G -> S. {ECO:0000269|PubMed:16799052}.
/FTId=VAR_075760.
VARIANT 141 141 Y -> C (in RP7 and VMD3).
{ECO:0000269|PubMed:15370544,
ECO:0000269|PubMed:16799052}.
/FTId=VAR_075761.
VARIANT 142 142 R -> W (in RP7; also found in a patient
with central areolar choroidal
dystrophy).
{ECO:0000269|PubMed:22334370}.
/FTId=VAR_006860.
VARIANT 153 153 K -> R (in RP7).
/FTId=VAR_006861.
VARIANT 153 153 Missing (in RP7).
/FTId=VAR_006862.
VARIANT 157 157 D -> N (in MDPT1).
/FTId=VAR_006863.
VARIANT 165 165 C -> Y (in RP7).
/FTId=VAR_006864.
VARIANT 167 167 G -> D (in MDPT1; butterfly-shaped).
{ECO:0000269|PubMed:8485574}.
/FTId=VAR_006865.
VARIANT 167 167 G -> S (in MDPT1; butterfly-shaped).
{ECO:0000269|PubMed:16024869}.
/FTId=VAR_032052.
VARIANT 169 169 Missing (in some patients with macular
dystrophy).
{ECO:0000269|PubMed:14557182}.
/FTId=VAR_032053.
VARIANT 172 172 R -> G (in MDPT1; butterfly-shaped).
/FTId=VAR_006866.
VARIANT 172 172 R -> Q (in some patients with macular
dystrophy). {ECO:0000269|PubMed:8485576}.
/FTId=VAR_006867.
VARIANT 172 172 R -> W (in some patients with macular
dystrophy; also in a family affected by
central areolar choroidal dystrophy).
{ECO:0000269|PubMed:7493155,
ECO:0000269|PubMed:8485576,
ECO:0000269|PubMed:9443872}.
/FTId=VAR_006868.
VARIANT 173 173 D -> V (in RP7).
/FTId=VAR_006869.
VARIANT 184 184 Y -> S (in cone-rod dystrophy).
/FTId=VAR_006870.
VARIANT 185 185 L -> P (in RP7; digenic inheritance;
results in disease in combination with a
null mutation of ROM1).
{ECO:0000269|PubMed:1684223}.
/FTId=VAR_006871.
VARIANT 193 193 Missing (in MDPT1; also in cone-rod
dystrophy).
/FTId=VAR_006872.
VARIANT 195 195 R -> L (in CACD2; increased protein
expression; dbSNP:rs121918567).
{ECO:0000269|PubMed:16832026,
ECO:0000269|PubMed:20213611,
ECO:0000269|PubMed:26796962}.
/FTId=VAR_032054.
VARIANT 198 198 S -> R (in RP7; decreased protein
expression).
{ECO:0000269|PubMed:16799052,
ECO:0000269|PubMed:26796962}.
/FTId=VAR_075762.
VARIANT 208 208 G -> D (in RP7).
{ECO:0000269|PubMed:10627133}.
/FTId=VAR_006873.
VARIANT 209 209 V -> I (in VMD3; increased protein
expression).
{ECO:0000269|PubMed:20213611,
ECO:0000269|PubMed:26796962}.
/FTId=VAR_075763.
VARIANT 210 210 P -> L (in RP7; decreased protein
expression).
{ECO:0000269|PubMed:11485765,
ECO:0000269|PubMed:26796962}.
/FTId=VAR_075764.
VARIANT 210 210 P -> R (in MDPT1 and RP7; also in adult-
onset foveomacular dystrophy with
choroidal neovascularization).
{ECO:0000269|PubMed:7519821,
ECO:0000269|PubMed:7862413,
ECO:0000269|PubMed:9443872}.
/FTId=VAR_006874.
VARIANT 210 210 P -> S (in RP7).
/FTId=VAR_006875.
VARIANT 211 211 F -> L (in RP7).
/FTId=VAR_006876.
VARIANT 212 212 S -> G (in RP7).
{ECO:0000269|PubMed:1427912}.
/FTId=VAR_006877.
VARIANT 212 212 S -> T (in VMD3).
{ECO:0000269|PubMed:9338584}.
/FTId=VAR_006878.
VARIANT 213 213 C -> F (in VMD3).
{ECO:0000269|PubMed:17653047}.
/FTId=VAR_071974.
VARIANT 213 213 C -> R (in MDPT1).
{ECO:0000269|PubMed:9443872}.
/FTId=VAR_006879.
VARIANT 214 214 C -> S (in RP7; decreased protein
expression).
{ECO:0000269|PubMed:26796962}.
/FTId=VAR_006880.
VARIANT 216 216 P -> A (in RP7).
{ECO:0000269|PubMed:19038374}.
/FTId=VAR_075765.
VARIANT 216 216 P -> L (in RP7).
{ECO:0000269|PubMed:1684223}.
/FTId=VAR_006881.
VARIANT 216 216 P -> R (in RP7).
{ECO:0000269|PubMed:16799052}.
/FTId=VAR_075766.
VARIANT 216 216 P -> S (in RP7).
/FTId=VAR_006882.
VARIANT 219 219 P -> R (in some patients with macular
dystrophy). {ECO:0000269|PubMed:9443872}.
/FTId=VAR_006883.
VARIANT 219 219 Missing (in RP7).
{ECO:0000269|PubMed:1684223}.
/FTId=VAR_006884.
VARIANT 220 220 R -> Q (in MDPT1; increased protein
expression).
{ECO:0000269|PubMed:26796962}.
/FTId=VAR_006885.
VARIANT 220 220 R -> W (in MDPT1).
{ECO:0000269|PubMed:9443872}.
/FTId=VAR_006886.
VARIANT 221 221 P -> L (in CACD2).
{ECO:0000269|PubMed:19038374}.
/FTId=VAR_075767.
VARIANT 237 240 Missing (in VMD3).
{ECO:0000269|PubMed:17653047}.
/FTId=VAR_071975.
VARIANT 244 244 N -> H (in cone-rod dystrophy).
/FTId=VAR_006888.
VARIANT 244 244 N -> K (in RP7; with bulls-eye
maculopathy).
{ECO:0000269|PubMed:8020945}.
/FTId=VAR_006887.
VARIANT 249 249 G -> S (in RP7; decreased protein
expression).
{ECO:0000269|PubMed:19038374,
ECO:0000269|PubMed:26796962}.
/FTId=VAR_075768.
VARIANT 266 266 G -> D (in RP7).
/FTId=VAR_006889.
VARIANT 268 268 V -> I (in VMD3).
{ECO:0000269|PubMed:9338584}.
/FTId=VAR_006890.
VARIANT 304 304 E -> Q (polymorphism; associated with D-
338 on the same haplotype;
dbSNP:rs390659).
{ECO:0000269|PubMed:11485765,
ECO:0000269|PubMed:14574404}.
/FTId=VAR_006891.
VARIANT 305 305 G -> D (in VMD3).
{ECO:0000269|PubMed:9338584}.
/FTId=VAR_006892.
VARIANT 310 310 K -> R (in dbSNP:rs425876).
{ECO:0000269|PubMed:14574404}.
/FTId=VAR_006893.
VARIANT 313 313 P -> L (in dbSNP:rs61748434).
{ECO:0000269|Ref.19}.
/FTId=VAR_006894.
VARIANT 338 338 G -> D (polymorphism; associated with Q-
304 on the same haplotype;
dbSNP:rs434102).
{ECO:0000269|PubMed:11485765,
ECO:0000269|PubMed:14574404}.
/FTId=VAR_006895.
CONFLICT 44 44 E -> G (in Ref. 4; AAH74720).
{ECO:0000305}.
SEQUENCE 346 AA; 39186 MW; 2BB3C5415E194D2A CRC64;
MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD VMNNSESHFV
PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP YLAICVLFNI ILFLVALCCF
LLRGSLENTL GQGLKNGMKY YRDTDTPGRC FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI
SNRYLDFSSK EVKDRIKSNV DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT
EELNLWVRGC RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE
SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG


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