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    C2orf71 chromosome 2 open reading frame 71 [ Homo sapiens (human) ]

    Gene ID: 388939, updated on 1-Aug-2015
    Official Symbol
    C2orf71provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 71provided by HGNC
    Primary source
    HGNC:HGNC:34383
    See related
    Ensembl:ENSG00000179270; MIM:613425; Vega:OTTHUMG00000152024
    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
    RP54
    Summary
    The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
    Orthologs
    See C2orf71 in Epigenomics, MapViewer
    Location:
    2p23.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (29061373..29074838, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (29284556..29297127, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 43 Neighboring gene small nucleolar RNA, C/D box 53 Neighboring gene family with sequence similarity 179, member A Neighboring gene uncharacterized LOC105374385 Neighboring gene uncharacterized LOC105374386 Neighboring gene CAP-GLY domain containing linker protein family, member 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Retinitis pigmentosa 54
    MedGen: C3150691 OMIM: 613428 GeneReviews: Retinitis Pigmentosa Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of recurrent early-onset major depressive disorder.
    NHGRI GWA Catalog

    Homology

    Clone Names

    • FLJ34931

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    primary cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    uncharacterized protein C2orf71

    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_021427.1 RefSeqGene

      Range
      5001..17572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001029883.2NP_001025054.1  uncharacterized protein C2orf71

      See identical proteins and their annotated locations for NP_001025054.1

      Status: REVIEWED

      Source sequence(s)
      AC105398, AK092250, BM669582
      Consensus CDS
      CCDS42669.1
      UniProtKB/Swiss-Prot
      A6NGG8
      Related
      ENSP00000332809, OTTHUMP00000201019, ENST00000331664, OTTHUMT00000324924
      Conserved Domains (1) summary
      pfam15449
      Location:11264
      Retinal; Retinal protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      29061373..29074838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532826.1XP_011531128.1  

      See identical proteins and their annotated locations for XP_011531128.1

      UniProtKB/Swiss-Prot
      A6NGG8
      Conserved Domains (1) summary
      pfam15449
      Location:11264
      Retinal; Retinal protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      29215022..29227597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)