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

Gene ID: 12834, updated on 5-Jan-2022

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
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. Predicted to act upstream of or within cell adhesion. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including cardiovascular system; extraembryonic component; gut; nervous system; and reproductive system. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A2 (collagen type VI alpha 2 chain). [provided by Alliance of Genome Resources, Nov 2021]
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
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (76058501..76086149, 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)
  • Targeted (2) 
  • Chemically induced (ENU) (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC36205

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables collagen binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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/Swiss-Prot
    Q02788
    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
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)
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