InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Col2a1

Summary

InnateDB Protein

IDBP-179343.6

Last Modified

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

Gene Symbol

Col2a1

Protein Name

collagen, type II, alpha 1

Synonyms

Col2; Col2a; Col2a-1; Del1; Dmm; Lpk; M100856; Rgsc856;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000023123

InnateDB Gene

IDBG-179337 (Col2a1)

Protein Structure

UniProt Annotation

Function

Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.

Disease Associations

Note=Defects in Col2a1 are the cause of a phenotype resembling human spondyloepiphyseal dysplasia congenita (sedc). Homozygous sedc mice can be identified at birth by their small size and shortened trunk. Adults have shortened noses, dysplastic vertebrae, femora and tibias, and retinoschisis and hearing loss.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
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:0007417	central nervous system development
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0010468	regulation of gene expression
GO:0030199	collagen fibril organization
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:0005581	collagen trimer
GO:0005585	collagen type II
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0031012	extracellular matrix

Protein Structure and Domains

PDB ID

MGI:88452

InterPro

IPR000885 Fibrillar collagen, C-terminal
IPR001007 von Willebrand factor, type C
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat

PFAM

PF01410
PF00093
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00214
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P28481