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    PRPH2 peripherin 2 [ Homo sapiens (human) ]

    Gene ID: 5961, updated on 6-Jun-2017
    Official Symbol
    PRPH2provided by HGNC
    Official Full Name
    peripherin 2provided by HGNC
    Primary source
    HGNC:HGNC:9942
    See related
    Ensembl:ENSG00000112619 MIM:179605; Vega:OTTHUMG00000014701
    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]
    Orthologs
    Location:
    6p21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (42694509..42723024, 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    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
     
    photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_009176.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000322.4NP_000313.2  peripherin-2

      Status: REVIEWED

      Source sequence(s)
      AL049843, BC074720
      Consensus CDS
      CCDS4871.1
      UniProtKB/Swiss-Prot
      P23942
      Related
      ENSP00000230381.5, OTTHUMP00000016404, ENST00000230381.6, OTTHUMT00000040556
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      42694509..42723024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_926295.2 RNA Sequence

    2. XR_427834.3 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      42666888..42692860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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