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PRPH2 peripherin 2 [ Homo sapiens (human) ]

Gene ID: 5961, updated on 12-Jan-2019

Summary

Official Symbol
PRPH2provided by HGNC
Official Full Name
peripherin 2provided by HGNC
Primary source
HGNC:HGNC:9942
See related
Ensembl:ENSG00000112619 MIM:179605
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22
Summary
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]
Expression
Broad expression in brain (RPKM 1.8), thyroid (RPKM 1.7) and 21 other tissues See more
Orthologs

Genomic context

See PRPH2 in Genome Data Viewer
Location:
6p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (42694509..42723039, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42664333..42690692, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 5 Neighboring gene ubiquitin protein ligase E3 component n-recognin 2 Neighboring gene RNA, U6 small nuclear 890, pseudogene Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 3 Neighboring gene tubulin folding cofactor C

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
peripherin-2
Names
peripherin 2 (retinal degeneration, slow)
peripherin 2, homolog of mouse
peripherin, photoreceptor type
retinal degeneration slow protein
retinal peripherin
tetraspanin-22
tspan-22

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009176.2 RefSeqGene

    Range
    5001..31026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000322.5NP_000313.2  peripherin-2

    Status: REVIEWED

    Source sequence(s)
    AL049843, BC074720
    Consensus CDS
    CCDS4871.1
    UniProtKB/Swiss-Prot
    P23942
    Related
    ENSP00000230381.5, ENST00000230381.6
    Conserved Domains (2) summary
    cd03162
    Location:120262
    peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
    pfam00335
    Location:20277
    Tetraspannin; Tetraspanin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    42694509..42723039 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_926295.3 RNA Sequence

  2. XR_427834.4 RNA Sequence

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