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
IDBP-96900 collagen, type IX, alpha 2
IDBP-96902 collagen, type IX, alpha 2
IDBP-381252 collagen, type IX, alpha 2
IDBP-381253 collagen, type IX, alpha 2
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
Accession GO Term
Molecular Function
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
ENSMUSG00000028626 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000020622 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_121139 Collagen biosynthesis and modifying enzymes
REACT_150401 Degradation of collagen
KEGG
hsa04974  Protein digestion and absorption
INOH
INOH website Integrin signaling 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