The PRPH2 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PRPH2
Gene name peripherin 2 (retinal degeneration, slow)
Chromosome 6
Chromosomal band p21.2-cen
Imprinted Unknown
Genomic reference NG_009176.2
Transcript reference NM_000322.4
Exon/intron information NM_000322.4 exon/intron table
Associated with diseases CACD2, MDPT-1, VMD, VMD-3, fundus albipunctatus (retinitis punctata albescens (RPA))
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Manon Peeters
Total number of public variants reported 2295
Unique public DNA variants reported 330
Individuals with public variants 5621
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated December 03, 2021
Version PRPH2:211203

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000322.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9942
Entrez Gene 5961
PubMed articles PRPH2
OMIM - Gene 179605
OMIM - Diseases CACD2 (dystrophy, choroidal, areolar, central, type 2 (CACD2))
MDPT-1 (dystrophy, macular, patterned, type 1 (MDPT-1))
VMD-3 (dystrophy, macular, vitelliform, type 3 (VMD-3))
fundus albipunctatus (retinitis punctata albescens (RPA))
GeneCards PRPH2
GeneTests PRPH2
Orphanet PRPH2

Active transcripts




NCBI ID     

NCBI Protein ID     

00016909 6 peripherin 2 (retinal degeneration, slow) NM_000322.4 NP_000313.2 2295

Copyright & disclaimer
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