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    CMYA5 cardiomyopathy associated 5 [ Homo sapiens (human) ]

    Gene ID: 202333, updated on 26-Jun-2015
    Official Symbol
    CMYA5provided by HGNC
    Official Full Name
    cardiomyopathy associated 5provided by HGNC
    Primary source
    HGNC:HGNC:14305
    See related
    Ensembl:ENSG00000164309; HPRD:16728; MIM:612193; Vega:OTTHUMG00000162548
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPRYD2; TRIM76; C5orf10
    Orthologs
    See CMYA5 in Epigenomics, MapViewer
    Location:
    5q14.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (79689836..79800226)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78985659..79096049)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379047 Neighboring gene PAP associated domain containing 4 Neighboring gene uncharacterized LOC102724557 Neighboring gene uncharacterized LOC105379048

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
    NHGRI GWA Catalog
    Genome-wide association study of selenium concentrations.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp451G182, DKFZp451G223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    M band IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cardiomyopathy-associated protein 5
    Names
    cardiomyopathy-associated protein 5
    2310076E16Rik
    SPRY domain-containing protein 2
    dystrobrevin-binding protein 2
    genethonin-3
    myospryn
    tripartite motif-containing 76
    tripartite motif-containing protein 76

    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.

    mRNA and Protein(s)

    1. NM_153610.4NP_705838.3  cardiomyopathy-associated protein 5

      See identical proteins and their annotated locations for NP_705838.3

      Status: VALIDATED

      Source sequence(s)
      AC008496, AC109488, AL832368, AL834252, BC020856, KF457927
      Consensus CDS
      CCDS47238.1
      UniProtKB/Swiss-Prot
      Q8N3K9
      Related
      ENSP00000394770, OTTHUMP00000222299, ENST00000446378, OTTHUMT00000369497
      Conserved Domains (3) summary
      smart00502
      Location:35463670
      BBC; B-Box C-terminal domain
      cd00063
      Location:37193802
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12898
      Location:38974059
      SPRY_PRY_TRIM76; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76), also called cardiomyopathy-associated protein 5

    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_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      79689836..79800226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_948242.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      78418744..78529160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)