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
collagen, type IX, alpha 3
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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
NCAM1 interactions pathway
Axon guidance pathway
Signal Transduction pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation pathway
KEGG
Protein digestion and absorption pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL Q4VXW1
UniProt Splice Variant
Entrez Gene 1299
UniGene Hs.716639
RefSeq NM_001853
HUGO HGNC:2219
OMIM 120270
CCDS CCDS13505
HPRD 00374
IMGT
EMBL AL035669
GenPept
RNA Seq Atlas 1299