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peripherin-2; retinal peripherin; retinal degeneration slow protein; tetraspanin-22; Tspan-22 (PRPH2, PRPH, RDS, TSPAN22)
Function:
- may function as an adhesion molecule involved in stabilization & compaction of outer segment disks or in the maintenance of the curvature of the rim
- essential for disk morphogenesis
- probably forms a complex with a ROM1 homodimer; other proteins could associate with this complex in rods
- interacts with MREG
Structure:
- homodimer; disulfide-linked.
- belongs to the PRPH2/ROM1 family
Compartment: membrane
Expression:
- expressed in retina (photoreceptor), in rim region of rod outer segment disks
Pathology:
- defects in PRPH2 are the cause of:
a) retinitis pigmentosa type 7
b) retinitis punctata albescens [MIM:136880]
- defects in PRPH2 are a cause of:
a) adult-onset vitelliform macular dystrophy
b) patterned dystrophy of retinal pigment epithelium
c) central areolar choroidal dystrophy
d) cone-rod dystrophy
- mutations underlying autosomal dominant retinitis pigmentosa & severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the 3rd & 4th transmembrane domains; in contrast, those associated with the milder pattern phenotypes or with digenic retinitis pigmentosa are scattered more evenly through the gene & are often nonsense mutations; this observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules & other protein components in the disk
Related
peripherin gene or retinal degeneration slow (rds)
General
oligomerizing protein
plasma membrane protein
transmembrane 4 protein
Properties
SIZE: entity length = 346 aa
MW = 39 kD
COMPARTMENT: plasma membrane
CELL: photoreceptor cell
WITHIN: retina
MOTIF: cytoplasmic domain {1-24}
transmembrane domain {25-43}
exoplasmic loop {44-61}
MOTIF: N-glycosylation site {N53}
transmembrane domain {62-80}
cytoplasmic loop {81-99}
transmembrane domain {100-123}
exoplasmic loop {124-264}
MOTIF: N-glycosylation site {N229}
transmembrane domain {265-290}
cytoplasmic domain {291-346}
MOTIF: MREG interaction {341-346}
Database Correlations
OMIM correlations
MORBIDMAP 179605
UniProt P23942
Pfam PF00335
Entrez Gene 5961
Kegg hsa:5961
References
- UniProt :accession P23942
- RDS; Note: RDS mutations page
http://mol.ophth.uiowa.edu/MOL_WWW/RDStab.html
- Mutations of the RDS gene
Retina International's scientific newsletter
http://www.retina-international.com/sci-news/rdsmut.htm
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPH2