InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL2A1

Summary

InnateDB Gene

IDBG-29355.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL2A1

Gene Name

collagen, type II, alpha 1

Synonyms

ANFH; AOM; COL11A3; SEDC; STL1

Species

Homo sapiens

Ensembl Gene

ENSG00000139219

Encoded Proteins

IDBP-29359

collagen, type II, alpha 1

IDBP-29361

collagen, type II, alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:47972965-48004486

Strand

Reverse strand

Band

q13.11

Transcripts

ENST00000337299	ENSP00000338213
ENST00000380518	ENSP00000369889
ENST00000493991
ENST00000483376
ENST00000474996
ENST00000466884
ENST00000490609
ENST00000465743
ENST00000546974

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0030020	extracellular matrix structural constituent conferring tensile strength
GO:0042802	identical protein binding
GO:0046872	metal ion binding
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001501	skeletal system development
GO:0001502	cartilage condensation
GO:0001503	ossification
GO:0001894	tissue homeostasis
GO:0001958	endochondral ossification
GO:0002062	chondrocyte differentiation
GO:0003007	heart morphogenesis
GO:0006029	proteoglycan metabolic process
GO:0007411	axon guidance
GO:0007417	central nervous system development
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0010468	regulation of gene expression
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0030903	notochord development
GO:0035108	limb morphogenesis
GO:0042472	inner ear morphogenesis
GO:0048705	skeletal system morphogenesis
GO:0048839	inner ear development
GO:0051216	cartilage development
GO:0060021	palate development
GO:0060174	limb bud formation
GO:0060272	embryonic skeletal joint morphogenesis
GO:0060348	bone development
GO:0060351	cartilage development involved in endochondral bone morphogenesis
GO:0071599	otic vesicle development
GO:0071773	cellular response to BMP stimulus
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005585	collagen type II
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix