Collagen, type II, alpha 1

COL2A1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1U5M, 2FSE, 2SEB
Identifiers
Aliases	COL2A1, AOM, COL11A3, Cartilage collagen, ANFH, STL1, collagen type II alpha 1, collagen type II alpha 1 chain, SEDC, Collagen II
External IDs	OMIM: 120140 MGI: 88452 HomoloGene: 55607 GeneCards: COL2A1
Gene location (Human)
Chr.	Chromosome 12 (human)
End	48,004,554 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	97,902,576 bp
RNA expression pattern
	Top expressed in
	tibia; ; corpus epididymis; ; trachea; ; sperm; ; spongy bone; ; pituitary gland; ; anterior pituitary; ; periodontal fiber; ; body of stomach; ; embryo;
	Top expressed in
	saccule; ; trachea; ; hand; ; nasal septum; ; calvaria; ; vertebral column; ; body of femur; ; larynx; ; intercostal muscle; ; humerus;
	More reference expression data
	n/a
Gene ontology
Molecular function	identical protein binding; platelet-derived growth factor binding; extracellular matrix structural constituent conferring tensile strength; extracellular matrix structural constituent; metal ion binding; MHC class II protein binding; proteoglycan binding;
Cellular component	endoplasmic reticulum lumen; collagen type II trimer; collagen; extracellular matrix; cytoplasm; basement membrane; extracellular space; extracellular region; collagen-containing extracellular matrix;
Biological process	proteoglycan metabolic process; central nervous system development; endochondral ossification; chondrocyte differentiation; collagen fibril organization; ossification; limb morphogenesis; otic vesicle development; notochord development; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; heart morphogenesis; inner ear morphogenesis; inner ear development; tissue homeostasis; regulation of immune response; cartilage development involved in endochondral bone morphogenesis; sensory perception of sound; skeletal system development; collagen catabolic process; regulation of gene expression; bone development; extracellular matrix organization; skeletal system morphogenesis; cellular response to BMP stimulus; visual perception; roof of mouth development; embryonic skeletal joint morphogenesis; cartilage development; limb bud formation; cartilage condensation; anterior head development;
	Sources:Amigo / QuickGO
Orthologs
	1280
	12824
	ENSG00000139219
	ENSMUSG00000022483
	P02458
	P28481
	NM_001844; NM_033150
	NM_001113515; NM_031163
	NP_001835; NP_149162
	NP_001106987; NP_112440
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.