UniProtKB - P23942 (PRPH2_HUMAN)
Protein
Peripherin-2
Gene
PRPH2
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity
GO - Molecular functioni
- protein homodimerization activity Source: Ensembl
GO - Biological processi
- cell adhesion Source: UniProtKB-KW
- detection of light stimulus involved in visual perception Source: Ensembl
- photoreceptor cell outer segment organization Source: Ensembl
- protein heterooligomerization Source: Ensembl
- protein homooligomerization Source: Ensembl
- retina development in camera-type eye Source: Ensembl
- visual perception Source: ProtInc
Keywordsi
Biological process | Cell adhesion, Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | P23942 |
Protein family/group databases
TCDBi | 8.A.40.1.3, the tetraspanin (tetraspanin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Peripherin-2Alternative name(s): Retinal degeneration slow protein Tetraspanin-22 Short name: Tspan-22 |
Gene namesi | Name:PRPH2 Synonyms:PRPH, RDS, TSPAN22 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000112619.7 |
HGNCi | HGNC:9942, PRPH2 |
MIMi | 179605, gene |
neXtProti | NX_P23942 |
Subcellular locationi
Other locations
- Membrane By similarity; Multi-pass membrane protein Sequence analysis
- photoreceptor outer segment By similarity
- Photoreceptor inner segment By similarity
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: ProtInc
- photoreceptor inner segment Source: UniProtKB-SubCell
- photoreceptor outer segment Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 24 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 25 – 43 | HelicalSequence analysisAdd BLAST | 19 | |
Topological domaini | 44 – 61 | LumenalSequence analysisAdd BLAST | 18 | |
Transmembranei | 62 – 80 | HelicalSequence analysisAdd BLAST | 19 | |
Topological domaini | 81 – 99 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 100 – 123 | HelicalSequence analysisAdd BLAST | 24 | |
Topological domaini | 124 – 264 | LumenalSequence analysisAdd BLAST | 141 | |
Transmembranei | 265 – 290 | HelicalSequence analysisAdd BLAST | 26 | |
Topological domaini | 291 – 346 | CytoplasmicSequence analysisAdd BLAST | 56 |
Keywords - Cellular componenti
Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 7 (RP7)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006853 | 13 | R → W in RP7; in combination with a null mutation of ROM1. Corresponds to variant dbSNP:rs61754402EnsemblClinVar. | 1 | |
Natural variantiVAR_006855 | 45 | L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar. | 1 | |
Natural variantiVAR_006858 | 118 | Missing in RP7. 1 Publication | 1 | |
Natural variantiVAR_075759 | 126 | L → P in RP7. 1 Publication | 1 | |
Natural variantiVAR_006859 | 126 | L → R in RP7. | 1 | |
Natural variantiVAR_075761 | 141 | Y → C in RP7 and VMD3. 2 PublicationsCorresponds to variant dbSNP:rs61755781EnsemblClinVar. | 1 | |
Natural variantiVAR_006860 | 142 | R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755783EnsemblClinVar. | 1 | |
Natural variantiVAR_006861 | 153 | K → R in RP7. Corresponds to variant dbSNP:rs61755785EnsemblClinVar. | 1 | |
Natural variantiVAR_006862 | 153 | Missing in RP7. | 1 | |
Natural variantiVAR_006864 | 165 | C → Y in RP7. Corresponds to variant dbSNP:rs61755788EnsemblClinVar. | 1 | |
Natural variantiVAR_006869 | 173 | D → V in RP7. Corresponds to variant dbSNP:rs61755794EnsemblClinVar. | 1 | |
Natural variantiVAR_006871 | 185 | L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs121918563EnsemblClinVar. | 1 | |
Natural variantiVAR_075762 | 198 | S → R in RP7; decreased protein expression. 2 Publications | 1 | |
Natural variantiVAR_006873 | 208 | G → D in RP7. 1 PublicationCorresponds to variant dbSNP:rs139185976EnsemblClinVar. | 1 | |
Natural variantiVAR_075764 | 210 | P → L in RP7; decreased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar. | 1 | |
Natural variantiVAR_006874 | 210 | P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar. | 1 | |
Natural variantiVAR_006875 | 210 | P → S in RP7. Corresponds to variant dbSNP:rs61755797EnsemblClinVar. | 1 | |
Natural variantiVAR_006876 | 211 | F → L in RP7. Corresponds to variant dbSNP:rs61755799EnsemblClinVar. | 1 | |
Natural variantiVAR_006877 | 212 | S → G in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755800EnsemblClinVar. | 1 | |
Natural variantiVAR_006880 | 214 | C → S in RP7; decreased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755804EnsemblClinVar. | 1 | |
Natural variantiVAR_075765 | 216 | P → A in RP7. 1 Publication | 1 | |
Natural variantiVAR_006881 | 216 | P → L in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755806EnsemblClinVar. | 1 | |
Natural variantiVAR_075766 | 216 | P → R in RP7. 1 Publication | 1 | |
Natural variantiVAR_006882 | 216 | P → S in RP7. Corresponds to variant dbSNP:rs61755805EnsemblClinVar. | 1 | |
Natural variantiVAR_006884 | 219 | Missing in RP7. 1 Publication | 1 | |
Natural variantiVAR_006887 | 244 | N → K in RP7; with bulls-eye maculopathy. 1 PublicationCorresponds to variant dbSNP:rs61755816EnsemblClinVar. | 1 | |
Natural variantiVAR_075768 | 249 | G → S in RP7; decreased protein expression. 2 Publications | 1 | |
Natural variantiVAR_006889 | 266 | G → D in RP7. Corresponds to variant dbSNP:rs62645935EnsemblClinVar. | 1 |
Retinitis punctata albescens (RPA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMMacular dystrophy, vitelliform, 3 (VMD3)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006855 | 45 | L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar. | 1 | |
Natural variantiVAR_075761 | 141 | Y → C in RP7 and VMD3. 2 PublicationsCorresponds to variant dbSNP:rs61755781EnsemblClinVar. | 1 | |
Natural variantiVAR_075763 | 209 | V → I in VMD3; increased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs753657349Ensembl. | 1 | |
Natural variantiVAR_006878 | 212 | S → T in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61755801EnsemblClinVar. | 1 | |
Natural variantiVAR_071974 | 213 | C → F in VMD3. 1 Publication | 1 | |
Natural variantiVAR_071975 | 237 – 240 | Missing in VMD3. 1 Publication | 4 | |
Natural variantiVAR_006890 | 268 | V → I in VMD3. 1 PublicationCorresponds to variant dbSNP:rs62645936EnsemblClinVar. | 1 | |
Natural variantiVAR_006892 | 305 | G → D in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61748432EnsemblClinVar. | 1 |
Macular dystrophy, patterned, 1 (MDPT1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006856 | 67 | Missing in MDPT1; also in cone-rod dystrophy. | 1 | |
Natural variantiVAR_006857 | 68 | G → R in MDPT1; also in cone-rod dystrophy. Corresponds to variant dbSNP:rs61755774EnsemblClinVar. | 1 | |
Natural variantiVAR_006863 | 157 | D → N in MDPT1. Corresponds to variant dbSNP:rs61755787EnsemblClinVar. | 1 | |
Natural variantiVAR_006865 | 167 | G → D in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs61755789EnsemblClinVar. | 1 | |
Natural variantiVAR_032052 | 167 | G → S in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs527236098EnsemblClinVar. | 1 | |
Natural variantiVAR_006866 | 172 | R → G in MDPT1; butterfly-shaped. Corresponds to variant dbSNP:rs61755792EnsemblClinVar. | 1 | |
Natural variantiVAR_006872 | 193 | Missing in MDPT1; also in cone-rod dystrophy. | 1 | |
Natural variantiVAR_006874 | 210 | P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar. | 1 | |
Natural variantiVAR_006879 | 213 | C → R in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755802EnsemblClinVar. | 1 | |
Natural variantiVAR_006885 | 220 | R → Q in MDPT1; increased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755810EnsemblClinVar. | 1 | |
Natural variantiVAR_006886 | 220 | R → W in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755809EnsemblClinVar. | 1 |
Choroidal dystrophy, central areolar 2 (CACD2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075758 | 123 | R → W in CACD2. 1 PublicationCorresponds to variant dbSNP:rs563581127EnsemblClinVar. | 1 | |
Natural variantiVAR_032054 | 195 | R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant dbSNP:rs121918567EnsemblClinVar. | 1 | |
Natural variantiVAR_075767 | 221 | P → L in CACD2. 1 Publication | 1 |
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.1 Publication
Keywords - Diseasei
Cone-rod dystrophy, Disease mutation, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 5961 |
GeneReviewsi | PRPH2 |
MalaCardsi | PRPH2 |
MIMi | 136880, phenotype 169150, phenotype 268000, phenotype 608133, phenotype 608161, phenotype 613105, phenotype |
Orphaneti | 99000, Adult-onset foveomacular vitelliform dystrophy 99001, Butterfly-shaped pigment dystrophy 75377, Central areolar choroidal dystrophy 1872, Cone rod dystrophy 227796, Fundus albipunctatus 99003, Multifocal pattern dystrophy simulating fundus flavimaculatus 791, Retinitis pigmentosa 52427, Retinitis punctata albescens 827, Stargardt disease |
PharmGKBi | PA34310 |
Miscellaneous databases
Pharosi | P23942, Tbio |
Polymorphism and mutation databases
BioMutai | PRPH2 |
DMDMi | 132212 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000168105 | 1 – 346 | Peripherin-2Add BLAST | 346 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 53 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 150 | Interchain (with ROM1)By similarity | ||
Glycosylationi | 229 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | P23942 |
MassIVEi | P23942 |
PaxDbi | P23942 |
PeptideAtlasi | P23942 |
PRIDEi | P23942 |
ProteomicsDBi | 54167 |
PTM databases
GlyGeni | P23942, 2 sites |
iPTMneti | P23942 |
PhosphoSitePlusi | P23942 |
Expressioni
Tissue specificityi
Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
Gene expression databases
Bgeei | ENSG00000112619, Expressed in biceps brachii and 138 other tissues |
Genevisiblei | P23942, HS |
Organism-specific databases
HPAi | ENSG00000112619, Tissue enriched (retina) |
Interactioni
Subunit structurei
Homodimer; disulfide-linked (By similarity).
Forms a homotetramer (By similarity).
Forms a heterotetramer with ROM1 (By similarity). Homotetramer and heterotetramer core complexes go on to form higher order complexes by formation of intermolecular disulfide bonds (By similarity).
Interacts with MREG (By similarity).
Interacts with STX3 (By similarity).
Interacts with SNAP25 (By similarity).
By similarityGO - Molecular functioni
- protein homodimerization activity Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111893, 2 interactors |
STRINGi | 9606.ENSP00000230381 |
Miscellaneous databases
RNActi | P23942, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 341 – 346 | Interaction with MREGBy similarity | 6 |
Sequence similaritiesi
Belongs to the PRPH2/ROM1 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3882, Eukaryota |
HOGENOMi | CLU_068903_0_0_1 |
InParanoidi | P23942 |
OrthoDBi | 1470436at2759 |
PhylomeDBi | P23942 |
TreeFami | TF331684 |
Family and domain databases
CDDi | cd03162, peripherin_like_LEL, 1 hit |
Gene3Di | 1.10.1450.10, 1 hit |
InterProi | View protein in InterPro IPR000830, Peripherin/rom-1 IPR018498, Peripherin/rom-1_CS IPR042026, Peripherin_LEL IPR018499, Tetraspanin/Peripherin IPR008952, Tetraspanin_EC2_sf |
Pfami | View protein in Pfam PF00335, Tetraspanin, 1 hit |
PRINTSi | PR00218, PERIPHERNRDS |
SUPFAMi | SSF48652, SSF48652, 1 hit |
PROSITEi | View protein in PROSITE PS00930, RDS_ROM1, 1 hit |
i Sequence
Sequence statusi: Complete.
P23942-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD
60 70 80 90 100
VMNNSESHFV PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP
110 120 130 140 150
YLAICVLFNI ILFLVALCCF LLRGSLENTL GQGLKNGMKY YRDTDTPGRC
160 170 180 190 200
FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI SNRYLDFSSK EVKDRIKSNV
210 220 230 240 250
DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT EELNLWVRGC
260 270 280 290 300
RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE
310 320 330 340
SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 44 | E → G in AAH74720 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_006853 | 13 | R → W in RP7; in combination with a null mutation of ROM1. Corresponds to variant dbSNP:rs61754402EnsemblClinVar. | 1 | |
Natural variantiVAR_006854 | 32 | I → V in some patients with macular dystrophy. Corresponds to variant dbSNP:rs61755767EnsemblClinVar. | 1 | |
Natural variantiVAR_006855 | 45 | L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar. | 1 | |
Natural variantiVAR_006856 | 67 | Missing in MDPT1; also in cone-rod dystrophy. | 1 | |
Natural variantiVAR_006857 | 68 | G → R in MDPT1; also in cone-rod dystrophy. Corresponds to variant dbSNP:rs61755774EnsemblClinVar. | 1 | |
Natural variantiVAR_006858 | 118 | Missing in RP7. 1 Publication | 1 | |
Natural variantiVAR_075758 | 123 | R → W in CACD2. 1 PublicationCorresponds to variant dbSNP:rs563581127EnsemblClinVar. | 1 | |
Natural variantiVAR_075759 | 126 | L → P in RP7. 1 Publication | 1 | |
Natural variantiVAR_006859 | 126 | L → R in RP7. | 1 | |
Natural variantiVAR_075760 | 137 | G → S1 PublicationCorresponds to variant dbSNP:rs781256236Ensembl. | 1 | |
Natural variantiVAR_075761 | 141 | Y → C in RP7 and VMD3. 2 PublicationsCorresponds to variant dbSNP:rs61755781EnsemblClinVar. | 1 | |
Natural variantiVAR_006860 | 142 | R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755783EnsemblClinVar. | 1 | |
Natural variantiVAR_006861 | 153 | K → R in RP7. Corresponds to variant dbSNP:rs61755785EnsemblClinVar. | 1 | |
Natural variantiVAR_006862 | 153 | Missing in RP7. | 1 | |
Natural variantiVAR_006863 | 157 | D → N in MDPT1. Corresponds to variant dbSNP:rs61755787EnsemblClinVar. | 1 | |
Natural variantiVAR_006864 | 165 | C → Y in RP7. Corresponds to variant dbSNP:rs61755788EnsemblClinVar. | 1 | |
Natural variantiVAR_006865 | 167 | G → D in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs61755789EnsemblClinVar. | 1 | |
Natural variantiVAR_032052 | 167 | G → S in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs527236098EnsemblClinVar. | 1 | |
Natural variantiVAR_032053 | 169 | Missing in some patients with macular dystrophy. 1 Publication | 1 | |
Natural variantiVAR_006866 | 172 | R → G in MDPT1; butterfly-shaped. Corresponds to variant dbSNP:rs61755792EnsemblClinVar. | 1 | |
Natural variantiVAR_006867 | 172 | R → Q in some patients with macular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755793EnsemblClinVar. | 1 | |
Natural variantiVAR_006868 | 172 | R → W in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. 3 PublicationsCorresponds to variant dbSNP:rs61755792EnsemblClinVar. | 1 | |
Natural variantiVAR_006869 | 173 | D → V in RP7. Corresponds to variant dbSNP:rs61755794EnsemblClinVar. | 1 | |
Natural variantiVAR_006870 | 184 | Y → S in cone-rod dystrophy. Corresponds to variant dbSNP:rs62645926EnsemblClinVar. | 1 | |
Natural variantiVAR_006871 | 185 | L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs121918563EnsemblClinVar. | 1 | |
Natural variantiVAR_006872 | 193 | Missing in MDPT1; also in cone-rod dystrophy. | 1 | |
Natural variantiVAR_032054 | 195 | R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant dbSNP:rs121918567EnsemblClinVar. | 1 | |
Natural variantiVAR_075762 | 198 | S → R in RP7; decreased protein expression. 2 Publications | 1 | |
Natural variantiVAR_006873 | 208 | G → D in RP7. 1 PublicationCorresponds to variant dbSNP:rs139185976EnsemblClinVar. | 1 | |
Natural variantiVAR_075763 | 209 | V → I in VMD3; increased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs753657349Ensembl. | 1 | |
Natural variantiVAR_075764 | 210 | P → L in RP7; decreased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar. | 1 | |
Natural variantiVAR_006874 | 210 | P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar. | 1 | |
Natural variantiVAR_006875 | 210 | P → S in RP7. Corresponds to variant dbSNP:rs61755797EnsemblClinVar. | 1 | |
Natural variantiVAR_006876 | 211 | F → L in RP7. Corresponds to variant dbSNP:rs61755799EnsemblClinVar. | 1 | |
Natural variantiVAR_006877 | 212 | S → G in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755800EnsemblClinVar. | 1 | |
Natural variantiVAR_006878 | 212 | S → T in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61755801EnsemblClinVar. | 1 | |
Natural variantiVAR_071974 | 213 | C → F in VMD3. 1 Publication | 1 | |
Natural variantiVAR_006879 | 213 | C → R in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755802EnsemblClinVar. | 1 | |
Natural variantiVAR_006880 | 214 | C → S in RP7; decreased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755804EnsemblClinVar. | 1 | |
Natural variantiVAR_075765 | 216 | P → A in RP7. 1 Publication | 1 | |
Natural variantiVAR_006881 | 216 | P → L in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755806EnsemblClinVar. | 1 | |
Natural variantiVAR_075766 | 216 | P → R in RP7. 1 Publication | 1 | |
Natural variantiVAR_006882 | 216 | P → S in RP7. Corresponds to variant dbSNP:rs61755805EnsemblClinVar. | 1 | |
Natural variantiVAR_006883 | 219 | P → R in some patients with macular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755808EnsemblClinVar. | 1 | |
Natural variantiVAR_006884 | 219 | Missing in RP7. 1 Publication | 1 | |
Natural variantiVAR_006885 | 220 | R → Q in MDPT1; increased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755810EnsemblClinVar. | 1 | |
Natural variantiVAR_006886 | 220 | R → W in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755809EnsemblClinVar. | 1 | |
Natural variantiVAR_075767 | 221 | P → L in CACD2. 1 Publication | 1 | |
Natural variantiVAR_071975 | 237 – 240 | Missing in VMD3. 1 Publication | 4 | |
Natural variantiVAR_006888 | 244 | N → H in cone-rod dystrophy. Corresponds to variant dbSNP:rs61755815EnsemblClinVar. | 1 | |
Natural variantiVAR_006887 | 244 | N → K in RP7; with bulls-eye maculopathy. 1 PublicationCorresponds to variant dbSNP:rs61755816EnsemblClinVar. | 1 | |
Natural variantiVAR_075768 | 249 | G → S in RP7; decreased protein expression. 2 Publications | 1 | |
Natural variantiVAR_006889 | 266 | G → D in RP7. Corresponds to variant dbSNP:rs62645935EnsemblClinVar. | 1 | |
Natural variantiVAR_006890 | 268 | V → I in VMD3. 1 PublicationCorresponds to variant dbSNP:rs62645936EnsemblClinVar. | 1 | |
Natural variantiVAR_006891 | 304 | E → Q Polymorphism; associated with D-338 on the same haplotype. 2 PublicationsCorresponds to variant dbSNP:rs390659Ensembl. | 1 | |
Natural variantiVAR_006892 | 305 | G → D in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61748432EnsemblClinVar. | 1 | |
Natural variantiVAR_006893 | 310 | K → R1 PublicationCorresponds to variant dbSNP:rs425876Ensembl. | 1 | |
Natural variantiVAR_006894 | 313 | P → L1 PublicationCorresponds to variant dbSNP:rs61748434EnsemblClinVar. | 1 | |
Natural variantiVAR_006895 | 338 | G → D Polymorphism; associated with Q-304 on the same haplotype. 2 PublicationsCorresponds to variant dbSNP:rs434102Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M73531 mRNA Translation: AAA60260.1 U07149, U07147, U07148 Genomic DNA Translation: AAA16958.1 AL049843 Genomic DNA No translation available. BC074720 mRNA Translation: AAH74720.1 |
CCDSi | CCDS4871.1 |
PIRi | A40308 |
RefSeqi | NP_000313.2, NM_000322.4 |
Genome annotation databases
Ensembli | ENST00000230381; ENSP00000230381; ENSG00000112619 |
GeneIDi | 5961 |
KEGGi | hsa:5961 |
UCSCi | uc003osk.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the RDS gene Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M73531 mRNA Translation: AAA60260.1 U07149, U07147, U07148 Genomic DNA Translation: AAA16958.1 AL049843 Genomic DNA No translation available. BC074720 mRNA Translation: AAH74720.1 |
CCDSi | CCDS4871.1 |
PIRi | A40308 |
RefSeqi | NP_000313.2, NM_000322.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111893, 2 interactors |
STRINGi | 9606.ENSP00000230381 |
Protein family/group databases
TCDBi | 8.A.40.1.3, the tetraspanin (tetraspanin) family |
PTM databases
GlyGeni | P23942, 2 sites |
iPTMneti | P23942 |
PhosphoSitePlusi | P23942 |
Polymorphism and mutation databases
BioMutai | PRPH2 |
DMDMi | 132212 |
Proteomic databases
jPOSTi | P23942 |
MassIVEi | P23942 |
PaxDbi | P23942 |
PeptideAtlasi | P23942 |
PRIDEi | P23942 |
ProteomicsDBi | 54167 |
Protocols and materials databases
Antibodypediai | 30169, 65 antibodies |
DNASUi | 5961 |
Genome annotation databases
Ensembli | ENST00000230381; ENSP00000230381; ENSG00000112619 |
GeneIDi | 5961 |
KEGGi | hsa:5961 |
UCSCi | uc003osk.4, human |
Organism-specific databases
CTDi | 5961 |
DisGeNETi | 5961 |
EuPathDBi | HostDB:ENSG00000112619.7 |
GeneCardsi | PRPH2 |
GeneReviewsi | PRPH2 |
HGNCi | HGNC:9942, PRPH2 |
HPAi | ENSG00000112619, Tissue enriched (retina) |
MalaCardsi | PRPH2 |
MIMi | 136880, phenotype 169150, phenotype 179605, gene 268000, phenotype 608133, phenotype 608161, phenotype 613105, phenotype |
neXtProti | NX_P23942 |
Orphaneti | 99000, Adult-onset foveomacular vitelliform dystrophy 99001, Butterfly-shaped pigment dystrophy 75377, Central areolar choroidal dystrophy 1872, Cone rod dystrophy 227796, Fundus albipunctatus 99003, Multifocal pattern dystrophy simulating fundus flavimaculatus 791, Retinitis pigmentosa 52427, Retinitis punctata albescens 827, Stargardt disease |
PharmGKBi | PA34310 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3882, Eukaryota |
HOGENOMi | CLU_068903_0_0_1 |
InParanoidi | P23942 |
OrthoDBi | 1470436at2759 |
PhylomeDBi | P23942 |
TreeFami | TF331684 |
Enzyme and pathway databases
PathwayCommonsi | P23942 |
Miscellaneous databases
BioGRID-ORCSi | 5961, 20 hits in 837 CRISPR screens |
ChiTaRSi | PRPH2, human |
GeneWikii | Peripherin_2 |
GenomeRNAii | 5961 |
Pharosi | P23942, Tbio |
PROi | PR:P23942 |
RNActi | P23942, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112619, Expressed in biceps brachii and 138 other tissues |
Genevisiblei | P23942, HS |
Family and domain databases
CDDi | cd03162, peripherin_like_LEL, 1 hit |
Gene3Di | 1.10.1450.10, 1 hit |
InterProi | View protein in InterPro IPR000830, Peripherin/rom-1 IPR018498, Peripherin/rom-1_CS IPR042026, Peripherin_LEL IPR018499, Tetraspanin/Peripherin IPR008952, Tetraspanin_EC2_sf |
Pfami | View protein in Pfam PF00335, Tetraspanin, 1 hit |
PRINTSi | PR00218, PERIPHERNRDS |
SUPFAMi | SSF48652, SSF48652, 1 hit |
PROSITEi | View protein in PROSITE PS00930, RDS_ROM1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PRPH2_HUMAN | |
Accessioni | P23942Primary (citable) accession number: P23942 Secondary accession number(s): Q5TFH5, Q6DK65 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 1992 |
Last sequence update: | March 1, 1992 | |
Last modified: | December 2, 2020 | |
This is version 191 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations