Peripherin 2

PRPH2
Identifiers
Aliases	PRPH2, AOFMD, AVMD, CACD2, DS, PRPH, RDS, RP7, TSPAN22, rd2, MDBS1, Peripherin 2, peripherin 2 (retinal degeneration, slow)
External IDs	OMIM: 179605; MGI: 102791; HomoloGene: 273; GeneCards: PRPH2; OMA:PRPH2 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	42,722,597 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	47,235,859 bp
RNA expression pattern
	Top expressed in
	quadriceps femoris muscle; ; vastus lateralis muscle; ; muscle of thigh; ; deltoid muscle; ; testicle; ; gastrocnemius muscle; ; gonad; ; muscle of arm; ; biceps brachii; ; Skeletal muscle tissue of biceps brachii;
	Top expressed in
	neural layer of retina; ; epithelium of lens; ; retinal pigment epithelium; ; embryo; ; outer nuclear layer; ; pineal gland; ; nucleus of stria terminalis; ; spermatid;
	More reference expression data
	More reference expression data
Orthologs
	5961
	19133
	ENSG00000112619
	ENSMUSG00000023978
	P23942
	P15499
	NM_000322
	NM_008938
	NP_000313
	NP_032964
	Wikidata
View/Edit Human	View/Edit Mouse

Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.

Mutations in the PRPH2 gene are associated with Vitelliform macular dystrophy.