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    Col6a2 collagen, type VI, alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 12834, updated on 9-Dec-2024

    Summary

    Official Symbol
    Col6a2provided by MGI
    Official Full Name
    collagen, type VI, alpha 2provided by MGI
    Primary source
    MGI:MGI:88460
    See related
    Ensembl:ENSMUSG00000020241 AllianceGenome:MGI:88460
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Col6a-2
    Summary
    Predicted to enable collagen binding activity. Acts upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including cardiovascular system; central nervous system; extraembryonic component; gut; and reproductive system. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Orthologous to human COL6A2 (collagen type VI alpha 2 chain). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 277.0), ovary adult (RPKM 148.2) and 13 other tissues See more
    Orthologs
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    Genomic context

    See Col6a2 in Genome Data Viewer
    Location:
    10 C1; 10 39.32 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (76431590..76459464, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (76595756..76623630, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene spermatogenesis and centriole associated 1 like Neighboring gene predicted gene 15343 Neighboring gene formiminotransferase cyclodeaminase Neighboring gene predicted gene, 51774 Neighboring gene predicted gene, 35608

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Targeted (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC36205

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001347207.1NP_001334136.1  collagen alpha-2(VI) chain isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC153892, AK042826, AK132540, AW487891, CB249309, CD804788, CK619862, CN670932
      Consensus CDS
      CCDS83715.1
      UniProtKB/TrEMBL
      D3Z7D5
      Related
      ENSMUSP00000101053.2, ENSMUST00000105413.8
    2. NM_146007.2NP_666119.1  collagen alpha-2(VI) chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_666119.1

      Status: VALIDATED

      Source sequence(s)
      AK128938, CJ159755, CJ313132, X65582
      Consensus CDS
      CCDS23951.1
      UniProtKB/Swiss-Prot
      Q02788, Q05505, Q8C972, Q8K229
      Related
      ENSMUSP00000001181.7, ENSMUST00000001181.13
      Conserved Domains (3) summary
      pfam01391
      Location:472529
      Collagen; Collagen triple helix repeat (20 copies)
      cd01480
      Location:627818
      vWA_collagen_alpha_1-VI-type; VWA_collagen alpha(VI) type: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam00092
      Location:8481022
      VWA; von Willebrand factor type A domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      76431590..76459464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)