PRPH2
entrez
5961
canonical
uniprot
P23942
canonical
ensembl
ENSG00000112619
resolver
ensp
ENSP00000230381
resolver
enst
ENST00000230381
resolver
genesymbol
PRPH2
resolver
genesymbol_syn
PRPH
resolver
genesymbol_syn
RDS
resolver
genesymbol_syn
TSPAN22
resolver
hgnc
HGNC:9942
resolver
uniprot
Q5TFH5
resolver
uniprot
Q6DK65
resolver
uniprot_entry
PRPH2_HUMAN
resolver
uniprot_sec
Q5TFH5
resolver
uniprot_sec
Q6DK65
resolver
amino_acid_sequence
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG
uniprot
proteins
disease_involvement
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:25447119, ECO:0000269|PubMed:26796962, ECO:0000269|PubMed:7862413, ECO:0000269|PubMed:8019570, ECO:0000269|PubMed:8020945, ECO:0000269|PubMed:8045710, ECO:0000269|PubMed:8058286, ECO:0000269|PubMed:8956033, ECO:0000269|PubMed:9331261}. Note=The disease is caused by variants 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 variants 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 variants 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:8956033, ECO:0000269|PubMed:9443872}. Note=The disease is caused by variants 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 variants 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. {ECO:0000269|PubMed:20335603}.
uniprot
proteins
function
FUNCTION: Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). {ECO:0000250|UniProtKB:P15499}.
uniprot
proteins
mass_dalton
39272
uniprot
proteins
protein_family
PRPH2/ROM1 family
uniprot
proteins
pubmed
10627133
uniprot
proteins
pubmed
11485765
uniprot
proteins
pubmed
1427912
uniprot
proteins
pubmed
14557182
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15370544
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16024869
uniprot
proteins
pubmed
1679750
uniprot
proteins
pubmed
16799052
uniprot
proteins
pubmed
16832026
uniprot
proteins
pubmed
1684223
uniprot
proteins
pubmed
1749427
uniprot
proteins
pubmed
17653047
uniprot
proteins
pubmed
19038374
uniprot
proteins
pubmed
20213611
uniprot
proteins
pubmed
20335603
uniprot
proteins
pubmed
22334370
uniprot
proteins
pubmed
25447119
uniprot
proteins
pubmed
26796962
uniprot
proteins
pubmed
7493155
uniprot
proteins
pubmed
7519821
uniprot
proteins
pubmed
7862413
uniprot
proteins
pubmed
8019570
uniprot
proteins
pubmed
8020945
uniprot
proteins
pubmed
8045710
uniprot
proteins
pubmed
8058286
uniprot
proteins
pubmed
8449524
uniprot
proteins
pubmed
8485574
uniprot
proteins
pubmed
8485576
uniprot
proteins
pubmed
8956033
uniprot
proteins
pubmed
9331261
uniprot
proteins
pubmed
9338584
uniprot
proteins
pubmed
9443872
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P17810}; Multi-pass membrane protein {ECO:0000255}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:P15499}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P15499}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..43; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 62..80; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 265..290; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins