Col2a1 - collagen, type II, alpha 1 Gene

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

Species: Mus musculus

Gene Type: protein coding
Gene ID: 12824

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 References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
22248926 MGI
Biological Process GO Annotation Evidence References 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 References 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
Col2a1 P28481 Col2a1 Mus musculus P28481
Comigration in SDS
22248926
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-108065A 3'-Sialyllactose sodium Inhibitor 99.89% Unkown
HY-RS02981 COL2A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-108065 3'-Sialyllactose Inhibitor / Unkown
HY-RS18559 Col2a1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25041 Col2a1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Col2a1 NCBI NCBI:1280