Homo sapiens Gene: COL9A2
Summary
InnateDB Gene IDBG-96898.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol COL9A2
Gene Name collagen, type IX, alpha 2
Synonyms DJ39G22.4; EDM2; MED; STL5;
Species Homo sapiens
Ensembl Gene ENSG00000049089
Encoded Proteins
collagen, type IX, alpha 2
collagen, type IX, alpha 2
collagen, type IX, alpha 2
collagen, type IX, alpha 2
Protein Structure
Entrez Gene
Summary This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:40766159-40783488
Strand Reverse strand
Band p34.2
Transcripts
ENST00000372748 ENSP00000361834
ENST00000372736 ENSP00000361821
ENST00000427563 ENSP00000407377
ENST00000417105 ENSP00000388493
ENST00000482722
ENST00000466267
ENST00000488463
ENST00000496215
ENST00000461118
ENST00000490132
ENST00000495948
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [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:0030198 extracellular matrix organization
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen
GO:0005594 collagen type IX
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Degradation of collagen pathway
KEGG
Protein digestion and absorption pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q14055
TrEMBL B1AKJ1 B1AKJ2 B1AKJ3 D3DPU8
UniProt Splice Variant
Entrez Gene 1298
UniGene Hs.418012
RefSeq NM_001852
HUGO 2218
OMIM 120260
CCDS CCDS450
HPRD 00373
IMGT
EMBL AF019406 AL050341 BC136326 BC136327 CH471059 M95610
GenPept AAA80977 AAC33512 AAI36327 AAI36328 CAB81611 CAI20431 CAI20432 CAI20433 EAX07224 EAX07226 EAX07228 EAX07229 EAX07230 EAX07232
ImmGen COL9A2 (murine)
RNA Seq Atlas 1298