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    Col5a2 collagen, type V, alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 12832, updated on 3-Oct-2018

    Summary

    Official Symbol
    Col5a2provided by MGI
    Official Full Name
    collagen, type V, alpha 2provided by MGI
    Primary source
    MGI:MGI:88458
    See related
    Ensembl:ENSMUSG00000026042 Vega:OTTMUSG00000021356
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110014L14Rik
    Summary
    This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in limb E14.5 (RPKM 56.0), bladder adult (RPKM 29.0) and 14 other tissues See more
    Orthologs

    Genomic context

    See Col5a2 in Genome Data Viewer
    Location:
    1; 1 C1.1
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (45374331..45503282, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (45431176..45560127, complement)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene heat shock protein 1 (chaperonin) pseudogene 12 Neighboring gene collagen, type III, alpha 1 Neighboring gene chromobox protein homolog 3 pseudogene Neighboring gene apurinic/apyrimidinic endonuclease 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix structural constituent conferring tensile strength HDA PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular response to amino acid stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen fibril organization ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    eye morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of endodermal cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    notochord development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    collagen trimer IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    collagen trimer IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen type V trimer IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    collagen type V trimer ISO
    Inferred from Sequence Orthology
    more info
     
    collagen-containing extracellular matrix HDA PubMed 
    extracellular matrix HDA PubMed 
    extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen alpha-2(V) chain
    Names
    procollagen, type V, alpha 2

    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.

    mRNA and Protein(s)

    1. NM_007737.2NP_031763.2  collagen alpha-2(V) chain preproprotein

      See identical proteins and their annotated locations for NP_031763.2

      Status: REVIEWED

      Source sequence(s)
      AK003709, AK132413, AK139130, AK147328
      Consensus CDS
      CCDS35555.1
      UniProtKB/Swiss-Prot
      Q3U962
      Related
      ENSMUSP00000083620.4, OTTMUSP00000023677, ENSMUST00000086430.4, OTTMUST00000050640
      Conserved Domains (3) summary
      pfam01391
      Location:493551
      Collagen; Collagen triple helix repeat (20 copies)
      smart00214
      Location:4095
      VWC; von Willebrand factor (vWF) type C domain
      pfam01410
      Location:12651496
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      45374331..45503282 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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