PRPH2 peripherin 2

Gene ID: 5961, updated on 2-Nov-2024
Gene type: protein coding
Also known as: DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Choroidal dystrophy, central areolar 2 MedGen: C2751290OMIM: 613105GeneReviews: Not available	See labs
Cone-rod dystrophy MedGen: C4085590GeneReviews: Not available	See labs
Patterned macular dystrophy 1 MedGen: C4551999OMIM: 169150GeneReviews: Not available	See labs
Pigmentary retinal dystrophy MedGen: C0311338OMIM: 136880GeneReviews: Not available	See labs
Retinitis pigmentosa 7 MedGen: C1842475OMIM: 608133GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	See labs
Vitelliform macular dystrophy 3 MedGen: CN295869OMIM: 608161GeneReviews: Not available	See labs

Genomic context

Location:: 6p21.1

Sequence:: Chromosome: 6; NC_000006.12 (42696598..42722597, complement)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRPH2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.