Gene table of COL4A6 : collagen type IV alpha 6 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL4A6OMIM linkNumber of associated genesgenes
PS304500DEAFNESS, X-LINKEDClinVar, OMIM, HUMSAVAR link to OMIM 5PRPS1, SMPX, AIFM1, POU3F4, COL4A6

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Annotation of the gene COL4A6

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 985, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Pathways in cancerhsa052003.98
Amoebiasishsa051465.82
Small cell lung cancerhsa052226.17
Focal adhesionhsa045104.92
ECM-receptor interactionhsa045126.09
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Integrin cell surface interactionsR-HSA-2160836.57
Laminin interactionsR-HSA-30001578.08
Anchoring fibril formationR-HSA-22143209.08
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
ECM proteoglycansR-HSA-30001786.75
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.2
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Associated GO terms for Molecular function
GO termGO IDGO IC
extracellular matrix structural constituentGO:00052015.37
structural molecule activityGO:00051983.1