Gene table of COL4A5 : collagen type IV alpha 5 chain

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COL4A5	OMIM link	Number of associated genes	genes
301050	ALPORT SYNDROME, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COL4A5

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
Protein digestion and absorption	hsa04974	6.2
Pathways in cancer	hsa05200	3.98
Amoebiasis	hsa05146	5.82
Small cell lung cancer	hsa05222	6.17
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
Laminin interactions	R-HSA-3000157	8.08
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2
Anchoring fibril formation	R-HSA-2214320	9.08
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
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98
Axon guidance	R-HSA-422475	3.93
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
extracellular matrix structural constituent	GO:0005201	5.37
structural molecule activity	GO:0005198	3.1