PRPH2

GENE INFORMATION

? »

Gene name

PRPH2 (HGNC Symbol)

Synonyms

CACD2, rd2, RDS, RP7, TSPAN22

Description

peripherin 2 (retinal degeneration, slow) (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It 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. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

Chromosome

6 (Chromosome progress)

Cytoband

p21.1

Chromosome location (bp)

42664340 - 42690312

Ensembl

ENSG00000112619 (version 73.37)

Entrez gene

5961

UniProt

P23942 (UniProt - Evidence at protein level)

neXtProt

NX_P23942

Antibodypedia

PRPH2 antibodies
 

PROTEIN VIEW

? »
 
 
 
PRPH2-001
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PRPH2-001 ENSP00000230381
ENST00000230381
P23942
Show all »
Show » Show » 346 39.3 No 4