Gene table of COL2A1 : collagen type II alpha 1 chain

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COL2A1	OMIM link	Number of associated genes	genes
184250	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1
183900	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1
215150	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	ClinVar, OMIM	link to OMIM	2	COL11A2, COL2A1
150600	LEGG-CALVE-PERTHES DISEASE	ClinVar, OMIM	link to OMIM	1	COL2A1
608805	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY	OMIM, HUMSAVAR	link to OMIM	1	COL2A1
604864	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1
156550	KNIEST DYSPLASIA	OMIM, HUMSAVAR	link to OMIM	1	COL2A1
132450	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1
609162	CZECH DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1
PS108300	STICKLER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	COL11A2, COL11A1, COL2A1, COL9A2, COL9A1
PS200600	ACHONDROGENESIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	TRIP11, SLC26A2, COL2A1
151210	PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1
271700	SPONDYLOPERIPHERAL DYSPLASIA	OMIM	link to OMIM	1	COL2A1
616583	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL2A1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Platelet activation	hsa04611	5.66
Protein digestion and absorption	hsa04974	6.2
Amoebiasis	hsa05146	5.82
Focal adhesion	hsa04510	4.92
ECM-receptor interaction	hsa04512	6.09
PI3K-Akt signaling pathway	hsa04151	4.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Integrin cell surface interactions	R-HSA-216083	6.57
Axon guidance	R-HSA-422475	3.93
Degradation of the extracellular matrix	R-HSA-1474228	6.11
Collagen degradation	R-HSA-1442490	7.03
ECM proteoglycans	R-HSA-3000178	6.75
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
NCAM1 interactions	R-HSA-419037	7.59
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56
Signal Transduction	R-HSA-162582	1.78
Signaling by PDGF	R-HSA-186797	4.53
Non-integrin membrane-ECM interactions	R-HSA-3000171	7.1
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
extracellular matrix structural constituent	GO:0005201	5.37
metal ion binding	GO:0046872	1.41
structural molecule activity	GO:0005198	3.1
growth factor binding	GO:0019838	4.89
extracellular matrix structural constituent conferring tensile strength	GO:0030020	7.95
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
platelet-derived growth factor binding	GO:0048407	7.34
ion binding	GO:0043167	1.36
identical protein binding	GO:0042802	2.63