PRPH2

peripherin 2

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000112619
UniProt:: P23942
OMIM:: 179605
Synonyms:: CACD2, RD2, RDS, RP7, TSPAN22

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.08) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:: retinitis pigmentosa; cone-rod dystrophy

Ciliopathy associations

Leber Congenital Amaurosis
Retinal Dystrophy/Degeneration

References: PMID:8202715, PMID:23847139, PMID:34828423, PMID:8485576, PMID:9443872, PMID:23847139

Subcellular localization

basal body, cilia

References: PMID:30819798, PMID:23886945, PMID:25805137

Functional category

Ciliary assembly/disassembly
Signaling (Hedgehog, GPCRs, ion channels)

Function

Photoreceptor-specific tetraspanin protein, essential for the morphogenesis of the outer segment (30819798). Role in generating and/or sensing the curvature associated with creation and maintenance of OS membrane architecture (23886945). Mutations are associated with RP (25805137).

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