Version 5.4
Homo sapiens Gene: COL9A3
Summary
InnateDB Gene IDBG-85418.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL9A3
Gene Name collagen, type IX, alpha 3
Synonyms DJ885L7.4.1; EDM3; IDD; MED
Species Homo sapiens
Ensembl Gene ENSG00000092758
Encoded Proteins
IDBP-85420
collagen, type IX, alpha 3
IDBP-380421
collagen, type IX, alpha 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:62816244-62841159
Strand Forward strand
Band q13.33
Transcripts
ENST00000343916 ENSP00000341640
ENST00000452372 ENSP00000394280
ENST00000477612
ENST00000489045
ENST00000463487
ENST00000466192
ENST00000469852
ENST00000490398
ENST00000481800
ENST00000472880
ENST00000469802
ENST00000462700
ENST00000467819
ENST00000466532
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [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:0007411 axon guidance
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005594 collagen type IX
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027570
View Gene Order
ENSBTAG00000015581
Not yet available
Pathways
NETPATH
REACTOME
REACT_13552
Integrin cell surface interactions pathway
REACT_16888
Signaling by PDGF pathway
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_150401
Collagen degradation pathway
REACT_18312
NCAM1 interactions pathway
REACT_18334
NCAM signaling for neurite out-growth pathway
REACT_111045
Developmental Biology pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_18266
Axon guidance pathway
REACT_111102
Signal Transduction pathway
REACT_163906
ECM proteoglycans pathway
REACT_120729
Collagen formation pathway
KEGG
hsa04974
Protein digestion and absorption pathway
INOH
INOH website
Integrin signaling pathway pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.716639
RefSeq NM_001853
HUGO
OMIM
CCDS CCDS13505
HPRD 00374
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca