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

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 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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Activation of COL1A2 transcription by HIF-1alpha occurred in the absence of hypoxia and is strongly enhanced by TGF-beta signaling.
Title: Hypoxia-inducible factor-1α promotes glomerulosclerosis and regulates COL1A2 expression through interactions with Smad3.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (5) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Col1a2 (e-PCR), detects polymorphism
- UniSTS:516099

Col1a2 (e-PCR), detects polymorphism
- UniSTS:507401

D6Mit138 (e-PCR), detects polymorphism
- UniSTS:116319

D7S2150E (e-PCR)
- UniSTS:151144

Col1a2 (e-PCR), detects polymorphism
- UniSTS:265065

Col1a2 (e-PCR), detects polymorphism
- UniSTS:531306

GDB:180350 (e-PCR)
- UniSTS:155082

GDB:177260 (e-PCR)
- UniSTS:154850

AA960264 (e-PCR)
- UniSTS:159478

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	IEA Inferred from Electronic Annotation more info
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	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

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in skin morphogenesis	ISO Inferred from Sequence Orthology 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 more info	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 region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	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)

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