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Genes
COL9A2
Gene - COL9A2
full name
collagen type IX alpha 2 chain
synonyms
DJ39G22.4, EDM2, MED, STL5, COL9A2, ENSG00000049089
HGNC
HGNC:2218
Entrez Gene
Gene:1298
ENSEMBL
ENSG00000049089
location
chr: 1
start: 40766162
stop: 40782939
strand: -
OMIM
OMIM:120260
: COL9A2
(Autosomal recessive inheritance)
OMIM:614284
: ?Stickler syndrome, type V
OMIM:600204
: Epiphyseal dysplasia, multiple, 2
transcripts
NM_001852.3
pathways
Assembly of collagen fibrils and other multimeric structures
[NCBI:1270247]
[REACTOME:R-HSA-2022090]
[PUBMED:8645190]
[PUBMED:21182410]
Axon guidance
[NCBI:83065]
[KEGG:hsa04360]
[NCBI:1270303]
[REACTOME:R-HSA-422475]
[PUBMED:14682358]
[PUBMED:15084255]
[PUBMED:11687826]
[PUBMED:15818466]
[PUBMED:15363605]
[PUBMED:12471249]
[PUBMED:15630019]
[PUBMED:11891122]
[PUBMED:15960985]
[PUBMED:12677003]
Collagen biosynthesis and modifying enzymes
[NCBI:1270246]
[REACTOME:R-HSA-1650814]
[PUBMED:14698617]
[PUBMED:17550969]
Collagen chain trimerization
[NCBI:1470926]
[REACTOME:R-HSA-8948216]
[PUBMED:710450]
[PUBMED:171650]
Collagen degradation
[NCBI:1270259]
[REACTOME:R-HSA-1442490]
[PUBMED:11076937]
[PUBMED:21087458]
[PUBMED:9818170]
Collagen formation
[NCBI:1270245]
[REACTOME:R-HSA-1474290]
[PUBMED:7574488]
[PUBMED:19693541]
Degradation of the extracellular matrix
[NCBI:1270257]
[REACTOME:R-HSA-1474228]
[PUBMED:21917992]
Developmental Biology
[NCBI:1270302]
[REACTOME:R-HSA-1266738]
ECM proteoglycans
[NCBI:1270256]
[REACTOME:R-HSA-3000178]
[PUBMED:20301236]
[PUBMED:21307119]
ECM-receptor interaction
[NCBI:83068]
[KEGG:hsa04512]
[PUBMED:7698997]
[PUBMED:15381249]
[PUBMED:12796473]
[PUBMED:11331578]
[PUBMED:15036264]
[PUBMED:12125070]
[PUBMED:12736199]
[PUBMED:15229478]
[PUBMED:11572082]
[PUBMED:10617638]
[PUBMED:12845610]
[PUBMED:12921709]
Extracellular matrix organization
[NCBI:1270244]
[REACTOME:R-HSA-1474244]
[PUBMED:21123617]
[PUBMED:21917992]
[PUBMED:12845610]
Focal adhesion
[NCBI:83067]
[KEGG:hsa04510]
[PUBMED:10698680]
[PUBMED:15459662]
[PUBMED:14756624]
[PUBMED:11573199]
[PUBMED:12640026]
[PUBMED:15179030]
[PUBMED:15108811]
[PUBMED:15053919]
[PUBMED:11082269]
[PUBMED:15034601]
[PUBMED:12235283]
[PUBMED:14519391]
[PUBMED:11146675]
[PUBMED:11229600]
[PUBMED:15688067]
[PUBMED:14744429]
[PUBMED:11882383]
Integrin cell surface interactions
[NCBI:1270260]
[REACTOME:R-HSA-216083]
[PUBMED:10215583]
[PUBMED:15147720]
[PUBMED:12231361]
[PUBMED:8866399]
[PUBMED:19273203]
NCAM signaling for neurite out-growth
[NCBI:1270312]
[REACTOME:R-HSA-375165]
[PUBMED:18760361]
[PUBMED:12587671]
[PUBMED:15662836]
[PUBMED:17975827]
[PUBMED:15153429]
[PUBMED:12700044]
NCAM1 interactions
[NCBI:1270313]
[REACTOME:R-HSA-419037]
[PUBMED:18607724]
[PUBMED:15662836]
PI3K-Akt signaling pathway
[NCBI:692234]
[KEGG:hsa04151]
[PUBMED:12048182]
[PUBMED:11357143]
[PUBMED:21440011]
[PUBMED:15209374]
[PUBMED:12669022]
[PUBMED:18842113]
[PUBMED:16847462]
[PUBMED:12660731]
[PUBMED:17360849]
[PUBMED:9838078]
[PUBMED:15505410]
[PUBMED:16248975]
[PUBMED:12531180]
[PUBMED:21779440]
[PUBMED:16187290]
[PUBMED:15784165]
[PUBMED:21620960]
Protein digestion and absorption
[NCBI:172847]
[KEGG:hsa04974]
[PUBMED:15772300]
[PUBMED:18195088]
[PUBMED:9687539]
[PUBMED:18400692]
[PUBMED:12583961]
[PUBMED:18626068]
[PUBMED:20522896]
[PUBMED:14977407]
[PUBMED:7937532]
[PUBMED:11546643]
[PUBMED:20093818]
[PUBMED:16887608]
[PUBMED:12237156]
Signal Transduction
[NCBI:1269379]
[REACTOME:R-HSA-162582]
[PUBMED:17604717]
[PUBMED:19648010]
[PUBMED:16260143]
[PUBMED:11742412]
[PUBMED:19536106]
[PUBMED:15863030]
[PUBMED:19379690]
[PUBMED:19458711]
[PUBMED:19935667]
[PUBMED:21252999]
[PUBMED:15520807]
[PUBMED:17496910]
[PUBMED:15450248]
[PUBMED:18043707]
[PUBMED:16939974]
[PUBMED:19762341]
[PUBMED:18483217]
[PUBMED:17084981]
[PUBMED:21781017]
[PUBMED:19619488]
Signaling by PDGF
[NCBI:1269478]
[REACTOME:R-HSA-186797]
[PUBMED:15207811]
[PUBMED:10508235]
[PUBMED:9739761]