Col2a1 - collagen, type II, alpha 1 Gene

Mus musculus

Also known as Dmm; Lpk; Col2; Del1; Col2a; Col2a-1; M100413; Rgsc413; Rgsc856

Gene ID: 12824 | Gene type: protein coding

About Col2a1

Summary

This gene encodes the alpha-1 subunit of the fibril-forming type II Collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Dec 2015]

Col2a1 Products(2)

mRNA	Protein	Name
NM_001113515.3	NP_001106987.2	collagen alpha-1(II) chain isoform 2 precursor
NM_031163.4	NP_112440.2	collagen alpha-1(II) chain isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22248926	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within anterior head development	IMP IMP: Inferred from mutant phenotype	26234751	MGI
acts upstream of or within bone development	IMP IMP: Inferred from mutant phenotype	11254354	MGI
acts upstream of or within cartilage condensation	IMP IMP: Inferred from mutant phenotype	3070812	MGI
acts upstream of or within cartilage development	IMP IMP: Inferred from mutant phenotype	7276808	MGI
acts upstream of or within cartilage development involved in endochondral bone morphogenesis	IMP IMP: Inferred from mutant phenotype	8989518	MGI
acts upstream of or within cellular response to BMP stimulus	IDA IDA: Inferred from direct assay	20501701	MGI
involved in central nervous system development	IEP IEP: Inferred from expression pattern	9119111	MGI
involved in chondrocyte differentiation	IEP IEP: Inferred from expression pattern	9119111	MGI
acts upstream of or within chondrocyte differentiation	IMP IMP: Inferred from mutant phenotype	7590256	MGI
acts upstream of or within collagen fibril organization	IMP IMP: Inferred from mutant phenotype	3070812	MGI
acts upstream of or within endochondral ossification	IMP IMP: Inferred from mutant phenotype	10100048	MGI
acts upstream of extrinsic apoptotic signaling pathway in absence of ligand	IMP IMP: Inferred from mutant phenotype	9299161	MGI
acts upstream of or within heart morphogenesis	IMP IMP: Inferred from mutant phenotype	7590256	MGI
acts upstream of or within inner ear development	IMP IMP: Inferred from mutant phenotype	10100048	MGI
acts upstream of or within inner ear morphogenesis	IMP IMP: Inferred from mutant phenotype	9165353	MGI
involved in limb bud formation	IEP IEP: Inferred from expression pattern	20940257	MGI
acts upstream of or within limb morphogenesis	IMP IMP: Inferred from mutant phenotype	10100048	MGI
acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP IMP: Inferred from mutant phenotype	9299161	MGI
involved in notochord development	IEP IEP: Inferred from expression pattern	9119111	MGI
involved in ossification	IEP IEP: Inferred from expression pattern	9119111	MGI
involved in otic vesicle development	IEP IEP: Inferred from expression pattern	9119111	MGI
acts upstream of or within proteoglycan metabolic process	IMP IMP: Inferred from mutant phenotype	3070812	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	9299161	MGI
acts upstream of or within roof of mouth development	IMP IMP: Inferred from mutant phenotype	7276808	MGI
acts upstream of or within skeletal system morphogenesis	IMP IMP: Inferred from mutant phenotype	7276808	MGI
acts upstream of or within tissue homeostasis	IMP IMP: Inferred from mutant phenotype	11237662	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in basement membrane	IDA IDA: Inferred from direct assay	11273670	MGI
part of collagen trimer	IDA IDA: Inferred from direct assay	17683922	MGI
part of collagen type II trimer	IDA IDA: Inferred from direct assay	9880238	MGI
part of collagen type II trimer	IMP IMP: Inferred from mutant phenotype	7276808	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	12799063	MGI
located in extracellular matrix	IDA IDA: Inferred from direct assay	1879364	MGI
located in extracellular space	IDA IDA: Inferred from direct assay	12799063	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

collagen alpha-1(II) chain

alpha-1 type II collagen	chondrocalcin
procollagen, type II, alpha 1

Col2a1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Col2a1	P28481	Col2a1	Mus musculus	P28481	Comigration in SDS	22248926

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108065A	3'-Sialyllactose sodium	Inhibitor	≥98.0%	Unkown
HY-RS02981	COL2A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-108065	3'-Sialyllactose	Inhibitor	/	Unkown
HY-RS18559	Col2a1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS25041	Col2a1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Col2a1	NCBI	NCBI:1280

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