Gene table of COL5A2 : collagen type V alpha 2 chain

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COL5A2	OMIM link	Number of associated genes	genes
154700	MARFAN SYNDROME	ClinVar	link to OMIM	8	NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1
130000	EHLERS-DANLOS SYNDROME, CLASSIC TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	COL1A1, COL5A1, COL5A2

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
Signaling by PDGF	R-HSA-186797	4.53
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
Syndecan interactions	R-HSA-3000170	8.23
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
SMAD binding	GO:0046332	5.45
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
ion binding	GO:0043167	1.36