Gene table of COL11A2 : collagen type XI alpha 2 chain

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COL11A2	OMIM link	Number of associated genes	genes
215150	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	COL11A2, COL2A1
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9
PS220290	DEAFNESS, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	60	CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA
PS108300	STICKLER SYNDROME	ClinVar, OMIM	link to OMIM	5	COL11A2, COL11A1, COL9A2, COL2A1, COL9A1
PS228520	FIBROCHONDROGENESIS	OMIM	link to OMIM	2	COL11A2, COL11A1
277610	WEISSENBACHER-ZWEYMULLER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL11A2

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
Degradation of the extracellular matrix	R-HSA-1474228	6.11
Collagen degradation	R-HSA-1442490	7.03
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56
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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
protein binding, bridging	GO:0030674	4.68
metal ion binding	GO:0046872	1.41
structural molecule activity	GO:0005198	3.1
extracellular matrix structural constituent	GO:0005201	5.37
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
extracellular matrix structural constituent conferring tensile strength	GO:0030020	7.95
binding, bridging	GO:0060090	4.57