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Aliases for PRPH2 Gene

Aliases for PRPH2 Gene

  • Peripherin 2 2 3 5
  • Peripherin 2 (Retinal Degeneration, Slow) 2 3
  • Retinal Degeneration Slow Protein 3 4
  • Retinal Peripherin 2 3
  • Tetraspanin-22 3 4
  • Tspan-22 3 4
  • TSPAN22 3 4
  • PRPH 3 4
  • RDS 3 4
  • Retinal Degeneration, Slow (Retinitis Pigmentosa 7) 2
  • Peripherin 2, Homolog Of Mouse 3
  • Peripherin, Photoreceptor Type 3
  • Retinal Degeneration, Slow 2
  • Peripherin-2 3
  • AOFMD 3
  • CACD2 3
  • MDBS1 3
  • AVMD 3
  • Rd2 3
  • RP7 3
  • DS 3

External Ids for PRPH2 Gene

Previous HGNC Symbols for PRPH2 Gene

  • RP7
  • RDS

Previous GeneCards Identifiers for PRPH2 Gene

  • GC06M042773
  • GC06M042382

Summaries for PRPH2 Gene

Entrez Gene Summary for PRPH2 Gene

  • 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]

GeneCards Summary for PRPH2 Gene

PRPH2 (Peripherin 2) is a Protein Coding gene. Diseases associated with PRPH2 include Macular Dystrophy, Vitelliform, 3 and Choroidal Dystrophy, Central Areolar 2. An important paralog of this gene is ROM1.

UniProtKB/Swiss-Prot for PRPH2 Gene

  • 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. It is essential for disk morphogenesis.

Gene Wiki entry for PRPH2 Gene

Additional gene information for PRPH2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPH2 Gene

Genomics for PRPH2 Gene

Regulatory Elements for PRPH2 Gene

Enhancers for PRPH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H042563 1.2 ENCODE 57.3 +158.0 157966 3.4 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 PRPH2 POLR1C FRS3 RNU6-890P PTK7 RPS2P29 ENSG00000271754 UBR2 GC06P042664
GH06H042710 0.9 FANTOM5 ENCODE 75.4 +12.4 12406 0.2 MEF2D SMARCE1 LEF1 FOXA2 RFX1 EGR1 IKZF1 PRPH2 RNU6-890P KLC4 RN7SL403P CUL7 GC06M042866 GC06M042870 PIR42549 PIR40827
GH06H042704 0.8 Ensembl ENCODE 72.6 +18.3 18323 0.9 TBP POLR2A SMAD5 FOXP2 ZIC2 PRPH2 RNU6-890P RPL7L1 PIR40827 GC06M042866 PIR42549 GC06M042870
GH06H042571 1 Ensembl ENCODE 48.8 +150.5 150515 2 HDGF EED ATF7 ETV6 RUNX3 IKZF2 CREM SMARCE1 ZNF687 ZNF362 PRPH2 RNU6-890P UBR2 GC06P042664
GH06H042691 0.5 ENCODE 64 +29.4 29396 3.9 JUND EGR1 ELF1 EBF1 SPI1 PRPH2 RNU6-890P RPL7L1 CUL7 KLC4 RN7SL403P UBR2 PIR60872
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRPH2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRPH2 Gene

Genomic Locations for PRPH2 Gene
26,395 bases
Minus strand

Genomic View for PRPH2 Gene

Genes around PRPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPH2 Gene

Proteins for PRPH2 Gene

  • Protein details for PRPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5TFH5
    • Q6DK65

    Protein attributes for PRPH2 Gene

    346 amino acids
    Molecular mass:
    39186 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG.

neXtProt entry for PRPH2 Gene

Post-translational modifications for PRPH2 Gene

  • Glycosylation at Asn53 and isoforms=229
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPH2 Gene

Domains & Families for PRPH2 Gene

Gene Families for PRPH2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for PRPH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PRPH2/ROM1 family.
  • Belongs to the PRPH2/ROM1 family.
genes like me logo Genes that share domains with PRPH2: view

Function for PRPH2 Gene

Molecular function for PRPH2 Gene

UniProtKB/Swiss-Prot Function:
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. It is essential for disk morphogenesis.

Phenotypes From GWAS Catalog for PRPH2 Gene

genes like me logo Genes that share phenotypes with PRPH2: view

Human Phenotype Ontology for PRPH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PRPH2 Gene

miRTarBase miRNAs that target PRPH2

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for PRPH2 (Peripherin 2/PRPH2)

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPH2 Gene

Localization for PRPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPH2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPH2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PRPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 1749427
genes like me logo Genes that share ontologies with PRPH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRPH2 Gene

Pathways & Interactions for PRPH2 Gene

SuperPathways for PRPH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0007601 visual perception IEA,TAS --
GO:0060041 retina development in camera-type eye IEA --
genes like me logo Genes that share ontologies with PRPH2: view

No data available for Pathways by source and SIGNOR curated interactions for PRPH2 Gene

Drugs & Compounds for PRPH2 Gene

(2) Drugs for PRPH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PRPH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRPH2: view

Transcripts for PRPH2 Gene

mRNA/cDNA for PRPH2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(64) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRPH2 Gene

Peripherin 2 (retinal degeneration, slow):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for PRPH2 (Peripherin 2/PRPH2)

Alternative Splicing Database (ASD) splice patterns (SP) for PRPH2 Gene

No ASD Table

Relevant External Links for PRPH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRPH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRPH2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for PRPH2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRPH2 Gene

Protein tissue co-expression partners for PRPH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRPH2 Gene:


SOURCE GeneReport for Unigene cluster for PRPH2 Gene:


mRNA Expression by UniProt/SwissProt for PRPH2 Gene:

Tissue specificity: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Evidence on tissue expression from TISSUES for PRPH2 Gene

  • Nervous system(4.4)
  • Eye(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lacrimal apparatus
  • middle ear
  • nose
  • outer ear
  • pituitary gland
  • skull
  • breast
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PRPH2: view

Orthologs for PRPH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRPH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRPH2 33 34
  • 99.04 (n)
(Bos Taurus)
Mammalia PRPH2 33 34
  • 89.79 (n)
(Canis familiaris)
Mammalia PRPH2 33 34
  • 89.4 (n)
(Mus musculus)
Mammalia Prph2 33 16 34
  • 87.38 (n)
(Rattus norvegicus)
Mammalia Prph2 33
  • 86.9 (n)
(Monodelphis domestica)
Mammalia PRPH2 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia PRPH2 34
  • 77 (a)
(Gallus gallus)
Aves PRPH2 33 34
  • 77.2 (n)
(Anolis carolinensis)
Reptilia PRPH2 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia prph2 33
  • 71.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia rds38 33
(Danio rerio)
Actinopterygii prph2a 33 34
  • 66.57 (n)
prph2b 34
  • 62 (a)
rds4 33
Species where no ortholog for PRPH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRPH2 Gene

Gene Tree for PRPH2 (if available)
Gene Tree for PRPH2 (if available)

Paralogs for PRPH2 Gene

Paralogs for PRPH2 Gene

(1) SIMAP similar genes for PRPH2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PRPH2: view

Variants for PRPH2 Gene

Sequence variations from dbSNP and Humsavar for PRPH2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121918567 Pathogenic, Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105] 42,704,609(-) AAGTC(G/T)AATCA nc-transcript-variant, reference, missense
rs61755770 untested, Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161], Retinitis pigmentosa 7 (RP7) [MIM:608133] 42,722,202(-) TTGAA(C/T)TCCGA nc-transcript-variant, reference, missense
VAR_006853 Retinitis pigmentosa 7 (RP7) [MIM:608133]
VAR_006857 Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
VAR_006859 Retinitis pigmentosa 7 (RP7) [MIM:608133]

Structural Variations from Database of Genomic Variants (DGV) for PRPH2 Gene

Variant ID Type Subtype PubMed ID
nsv1017398 CNV gain 25217958
nsv507327 OTHER sequence alteration 20534489
nsv519124 CNV loss 19592680
nsv830650 CNV loss 17160897

Variation tolerance for PRPH2 Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPH2 Gene

Disorders for PRPH2 Gene

MalaCards: The human disease database

(29) MalaCards diseases for PRPH2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
macular dystrophy, vitelliform, 3
  • adult-onset vitelliform macular dystrophy
choroidal dystrophy, central areolar 2
  • cacd2
macular dystrophy, patterned, 1
  • patterned dystrophy of retinal pigment epithelium
retinitis pigmentosa 7 and digenic
  • leber congenital amaurosis 18
fundus albipunctatus
  • retinitis punctata albescens
- elite association - COSMIC cancer census association via MalaCards
Search PRPH2 in MalaCards View complete list of genes associated with diseases


  • Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]: A disease of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. {ECO:0000269 PubMed:16832026, ECO:0000269 PubMed:19038374, ECO:0000269 PubMed:20213611, ECO:0000269 PubMed:26796962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]: A form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. {ECO:0000269 PubMed:16024869, ECO:0000269 PubMed:26796962, ECO:0000269 PubMed:8485574, ECO:0000269 PubMed:9443872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]: A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. {ECO:0000269 PubMed:15370544, ECO:0000269 PubMed:17653047, ECO:0000269 PubMed:20213611, ECO:0000269 PubMed:26796962, ECO:0000269 PubMed:9338584}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk.
  • Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:10627133, ECO:0000269 PubMed:11485765, ECO:0000269 PubMed:1427912, ECO:0000269 PubMed:16799052, ECO:0000269 PubMed:1684223, ECO:0000269 PubMed:1749427, ECO:0000269 PubMed:19038374, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:26796962, ECO:0000269 PubMed:7862413, ECO:0000269 PubMed:8020945}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis punctata albescens (RPA) [MIM:136880]: A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRPH2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PRPH2: view

No data available for Genatlas for PRPH2 Gene

Publications for PRPH2 Gene

  1. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. (PMID: 19038374) Renner AB … Kellner U (American journal of ophthalmology 2009) 3 4 22 60
  2. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. (PMID: 17653047) Gamundi MJ … Carballo M (Molecular vision 2007) 3 4 45 60
  3. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. (PMID: 8956033) Keen TJ … Inglehearn CF (Human mutation 1996) 3 4 22 60
  4. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. (PMID: 8485574) Nichols BE … Stone EM (Nature genetics 1993) 3 4 22 60
  5. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. (PMID: 1749427) Farrar GJ … Humphries P (Nature 1991) 2 3 4 60

Products for PRPH2 Gene

Sources for PRPH2 Gene

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