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Col1a2 collagen, type I, alpha 2 [ Mus musculus (house mouse) ]

Gene ID: 12843, updated on 21-Sep-2021

Summary

Official Symbol
Col1a2provided by MGI
Official Full Name
collagen, type I, alpha 2provided by MGI
Primary source
MGI:MGI:88468
See related
Ensembl:ENSMUSG00000029661
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
Co; Col; oim; Col1; Cola2; Cola-2; Col1a-2; AA960264; AI325291
Summary
This gene encodes the alpha-2 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-1 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice harboring certain mutations in the encoded gene exhibit symptoms of moderate to severe forms of osteogenesis imperfecta. [provided by RefSeq, Dec 2015]
Expression
Biased expression in bladder adult (RPKM 443.5), limb E14.5 (RPKM 423.9) and 13 other tissues See more
Orthologs
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Genomic context

See Col1a2 in Genome Data Viewer
Location:
6 A1; 6 1.81 cM
Exon count:
52
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (4505618..4541543)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (4505618..4541543)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (4455697..4491543)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52942 Neighboring gene VISTA enhancer mm398 Neighboring gene predicted gene, 53308 Neighboring gene predicted gene, 53307 Neighboring gene VISTA enhancer mm400 Neighboring gene chitobiase, di-N-acetyl- 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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables platelet-derived growth factor binding ISO
Inferred from Sequence Orthology
more info
 
enables protease binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of collagen trimer IDA
Inferred from Direct Assay
more info
PubMed 
part_of collagen type I trimer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of collagen type I trimer IDA
Inferred from Direct Assay
more info
PubMed 
part_of collagen type I trimer ISO
Inferred from Sequence Orthology
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
collagen alpha-2(I) chain
Names
alpha-2 type I collagen
collagen COL1A2
procollagen, type I, 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_007743.3NP_031769.2  collagen alpha-2(I) chain preproprotein

    See identical proteins and their annotated locations for NP_031769.2

    Status: REVIEWED

    Source sequence(s)
    AK132496, AK159212, BY138414
    Consensus CDS
    CCDS39420.1
    UniProtKB/Swiss-Prot
    Q01149
    UniProtKB/TrEMBL
    Q3TX57
    Related
    ENSMUSP00000031668.9, ENSMUST00000031668.10
    Conserved Domains (2) summary
    pfam01391
    Location:103162
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01410
    Location:11401371
    COLFI; Fibrillar collagen C-terminal 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_000072.7 Reference GRCm39 C57BL/6J

    Range
    4505618..4541543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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