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

Gene ID: 12843, updated on 2-Nov-2024

Summary

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Official Symbol
Col1a2provided by MGI
Official Full Name
collagen, type I, alpha 2provided by MGI
Primary source
MGI:MGI:88468
See related
Ensembl:ENSMUSG00000029661 AllianceGenome:MGI:88468
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
oim; Cola2; Cola-2; Col1a-2
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
human all
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Genomic context

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See Col1a2 in Genome Data Viewer
Location:
6 A1; 6 1.81 cM
Exon count:
52
Annotation release Status Assembly Chr Location
RS_2024_02 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)

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 STARR-seq mESC enhancer starr_15013 Neighboring gene predicted gene, 53307 Neighboring gene STARR-seq mESC enhancer starr_15014 Neighboring gene VISTA enhancer mm400 Neighboring gene chitobiase, di-N-acetyl- pseudogene Neighboring gene predicted gene, 33959

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. Identification of the oim mutation by dye terminator chemistry combined with automated direct DNA sequencing. Camacho NP, et al. J Orthop Res, 1998 Jan. PMID 9565071
  2. Changes in thermal stability and microunfolding pattern of collagen helix resulting from the loss of alpha2(I) chain in osteogenesis imperfecta murine. Kuznetsova NV, et al. J Mol Biol, 2003 Aug 1. PMID 12875845
  3. The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues. Miles CA, et al. J Mol Biol, 2002 Aug 30. PMID 12206762
  4. Combination sclerostin antibody and zoledronic acid treatment outperforms either treatment alone in a mouse model of osteogenesis imperfecta. Little DG, et al. Bone, 2017 Aug. PMID 28461254
  5. Novel collagen glomerulopathy in a homotrimeric type I collagen mouse (oim). Phillips CL, et al. Kidney Int, 2002 Aug. PMID 12109999

See all (422) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Schistosoma japonicumsja-let-7 Inhibits the Growth of Hepatocellular Carcinoma Cells via Cross-Species Regulation of Col1alpha2.
    Title: Schistosoma japonicumsja-let-7 Inhibits the Growth of Hepatocellular Carcinoma Cells via Cross-Species Regulation of Col1α2.
  2. Col1A-2 Mutation in Osteogenesis Imperfecta Mice Contributes to Long Bone Fragility by Modifying Cell-Matrix Organization.
    Title: Col1A-2 Mutation in Osteogenesis Imperfecta Mice Contributes to Long Bone Fragility by Modifying Cell-Matrix Organization.
  3. Col1a2-Deleted Mice Have Defective Type I Collagen and Secondary Reactive Cardiac Fibrosis with Altered Hypertrophic Dynamics.
    Title: Col1a2-Deleted Mice Have Defective Type I Collagen and Secondary Reactive Cardiac Fibrosis with Altered Hypertrophic Dynamics.
  4. Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta.
    Title: Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta.
  5. 4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing transition of hypertrophic chondrocytes to osteoblasts.
    Title: 4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing transition of hypertrophic chondrocytes to osteoblasts.
  6. Collagen Characterization in a Model of Nonalcoholic Steatohepatitis with Fibrosis; A Call for Development of Targeted Therapeutics.
    Title: Collagen Characterization in a Model of Nonalcoholic Steatohepatitis with Fibrosis; A Call for Development of Targeted Therapeutics.
  7. The results demonstrated that G610C mutation in collagen type I alpha 2 osteogenesis imperfect mice had significantly shorter long bones with growth plate abnormalities including elongated total height and hypertrophic zone.
    Title: Endoplasmic reticulum stress is induced in growth plate hypertrophic chondrocytes in G610C mouse model of osteogenesis imperfecta.
  8. miR-26b-5p interacted with 3'UTRs of Col1a2 and CTGF, and circ_000203 could block the interactions of miR-26b-5p and 3'UTRs of Col1a2 and CTGF.
    Title: CircRNA_000203 enhances the expression of fibrosis-associated genes by derepressing targets of miR-26b-5p, Col1a2 and CTGF, in cardiac fibroblasts.
  9. mouse with a Gly610 to cysteine (Cys) substitution in the procollagen alpha2(I) chain show misfolded procollagen accumulation in the endoplasmic reticulum leads to an unusual form of cell stress.
    Title: Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta.
  10. these results indicate that mutant collagen alpha2(I) chain affects both bone quantity and composition.
    Title: Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta.
Submit: New GeneRIF Correction See all GeneRIFs (54)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 conferring tensile strength IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in Rho protein signal transduction ISO
Inferred from Sequence Orthology
more info
  
involved_in blood vessel development IEA
Inferred from Electronic Annotation
more info
  
involved_in blood vessel development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within bone mineralization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in collagen fibril organization ISO
Inferred from Sequence Orthology
more info
  
involved_in collagen fibril organization NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within collagen metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within extracellular matrix assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein heterotrimerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of blood pressure ISO
Inferred from Sequence Orthology
more info
  
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development ISO
Inferred from Sequence Orthology
more info
  
involved_in skin morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in skin morphogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in transforming growth factor beta receptor signaling pathway 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
  
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 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
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

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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_007743.3 → NP_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, Q8CGA5
    UniProtKB/TrEMBL
    Q3TX57
    Related
    ENSMUSP00000031668.9, ENSMUST00000031668.10
    Conserved Domains (2) summary
    pfam01391
    Location:103 → 162
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01410
    Location:1140 → 1371
    COLFI; Fibrillar collagen C-terminal 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_000072.7 Reference GRCm39 C57BL/6J

    Range
    4505618..4541543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01149.2 GenPept UniProtKB/Swiss-Prot:Q01149

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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