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Aliases for PRPH2 Gene

Aliases for PRPH2 Gene

  • Peripherin 2 (Retinal Degeneration, Slow) 2 3 5
  • 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
  • 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 (Retinal Degeneration, Slow)) is a Protein Coding gene. Diseases associated with PRPH2 include macular dystrophy, vitelliform, 3 and macular dystrophy, patterned, 1. 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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRPH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPH2 Gene

Chromosome:
6
Start:
42,696,595 bp from pter
End:
42,722,989 bp from pter
Size:
26,395 bases
Orientation:
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:
    P23942-PRPH2_HUMAN
    Recommended name:
    Peripherin-2
    Protein Accession:
    P23942
    Secondary Accessions:
    • Q5TFH5
    • Q6DK65

    Protein attributes for PRPH2 Gene

    Size:
    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

Proteomics data for PRPH2 Gene at MOPED

Post-translational modifications for PRPH2 Gene

  • Glycosylation at Asn 53 and Asn 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

Suggested Antigen Peptide Sequences for PRPH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23942

UniProtKB/Swiss-Prot:

PRPH2_HUMAN :
  • Belongs to the PRPH2/ROM1 family.
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.
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

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

COMPARTMENTS
Jensen Localization Image for PRPH2 Gene COMPARTMENTS Subcellular localization image for PRPH2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
nucleus 1

Gene Ontology (GO) - Cellular Components for PRPH2 Gene

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

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:0007166 cell surface receptor signaling pathway IBA --
GO:0007601 visual perception 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:

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

No ASD Table

Relevant External Links for PRPH2 Gene

GeneLoc Exon Structure for
PRPH2
ECgene alternative splicing isoforms for
PRPH2

Expression for PRPH2 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for PRPH2 Gene Hs.654489

mRNA Expression by UniProt/SwissProt for PRPH2 Gene

P23942-PRPH2_HUMAN
Tissue specificity: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
genes like me logo Genes that share expression patterns with PRPH2: view

Protein tissue co-expression partners for PRPH2 Gene

Primer Products

In Situ Assay Products

Orthologs for PRPH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRPH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRPH2 35
  • 89.79 (n)
  • 91.04 (a)
PRPH2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPH2 35
  • 89.4 (n)
  • 91.91 (a)
PRPH2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prph2 35
  • 87.38 (n)
  • 91.04 (a)
Prph2 16
Prph2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPH2 35
  • 99.04 (n)
  • 99.13 (a)
PRPH2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prph2 35
  • 86.9 (n)
  • 90.75 (a)
oppossum
(Monodelphis domestica)
Mammalia PRPH2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPH2 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRPH2 35
  • 77.2 (n)
  • 80 (a)
PRPH2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPH2 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prph2 35
  • 71.9 (n)
  • 70.06 (a)
African clawed frog
(Xenopus laevis)
Amphibia rds38 35
zebrafish
(Danio rerio)
Actinopterygii prph2a 35
  • 66.57 (n)
  • 64.83 (a)
prph2a 36
  • 65 (a)
OneToMany
prph2b 36
  • 62 (a)
OneToMany
rds4 35
Species with no ortholog for PRPH2:
  • 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

ENSEMBL:
Gene Tree for PRPH2 (if available)
TreeFam:
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
VAR_006853 Retinitis pigmentosa 7 (RP7)
VAR_006854 -
rs61755770 Retinitis pigmentosa 7 (RP7) 42,722,202(-) TTGAA(C/T)TCCGA nc-transcript-variant, reference, missense
VAR_006857 Macular dystrophy, patterned, 1 (MDPT1)
VAR_006859 Retinitis pigmentosa 7 (RP7)

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

Variant ID Type Subtype PubMed ID
nsv830650 CNV Loss 17160897
nsv507327 CNV Insertion 20534489
nsv519124 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
PRPH2
Human Gene Mutation Database (HGMD)
PRPH2

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

Disorders for PRPH2 Gene

MalaCards: The human disease database

(31) 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
macular dystrophy, patterned, 1
  • patterned dystrophy of retinal pigment epithelium
choriodal dystrophy, central areolar 2
  • choroidal dystrophy, central areolar 2
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

UniProtKB/Swiss-Prot

PRPH2_HUMAN
  • 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}. 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: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:17653047, 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:1427912, ECO:0000269 PubMed:1684223, ECO:0000269 PubMed:1749427, ECO:0000269 PubMed:22334370, 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)
PRPH2
Human Genome Epidemiology (HuGE) Navigator
PRPH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPH2
genes like me logo Genes that share disorders with PRPH2: view

No data available for Genatlas for PRPH2 Gene

Publications for PRPH2 Gene

  1. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. (PMID: 17653047) Gamundi M.J. … Carballo M. (Mol. Vis. 2007) 3 4 48 67
  2. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. (PMID: 19038374) Renner A.B. … Kellner U. (Am. J. Ophthalmol. 2009) 3 23
  3. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene. (PMID: 18050133) Passerini I. … Torricelli F. (Eur J Ophthalmol 2007) 3 23
  4. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. (PMID: 16885924) Zhuk S.A. … Edwards A.O. (Mol. Vis. 2006) 3 23
  5. Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene. (PMID: 16340530) Khoubian F.J. … Donoso L.A. (Retina (Philadelphia, Pa.) 2005) 3 23

Products for PRPH2 Gene

Sources for PRPH2 Gene

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