InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL9A2

Summary

InnateDB Protein

IDBP-96900.6

Last Modified

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

Gene Symbol

COL9A2

Protein Name

collagen, type IX, alpha 2

Synonyms

DJ39G22.4; EDM2; MED; STL5;

Species

Homo sapiens

Ensembl Protein

ENSP00000361834

InnateDB Gene

IDBG-96898 (COL9A2)

Protein Structure

UniProt Annotation

Function

Structural component of hyaline cartilage and vitreous of the eye.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Multiple epiphyseal dysplasia 2 (EDM2) [MIM:600204]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269PubMed:10364514}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269PubMed:10411504}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Stickler syndrome 5 (STL5) [MIM:614284]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. {ECO:0000269PubMed:21671392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0030020	extracellular matrix structural constituent conferring tensile strength

Biological Process

GO:0001501	skeletal system development
GO:0007411	axon guidance
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process