Gene table of COL4A4 : collagen type IV alpha 4 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL4A4OMIM linkNumber of associated genesgenes
141200HEMATURIA, BENIGN FAMILIALClinVar, HUMSAVAR link to OMIM 2COL4A3, COL4A4
203780ALPORT SYNDROME, AUTOSOMAL RECESSIVEOMIM, HUMSAVAR link to OMIM 2COL4A3, COL4A4

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Annotation of the gene COL4A4

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

The gene is in the tandem Group 148, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

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
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.2
Anchoring fibril formationR-HSA-22143209.08
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
ECM proteoglycansR-HSA-30001786.75
NCAM signaling for neurite out-growthR-HSA-3751654.9
NCAM1 interactionsR-HSA-4190377.59
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Signal TransductionR-HSA-1625821.78
Signaling by PDGFR-HSA-1867974.53
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Axon guidanceR-HSA-4224753.93
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
extracellular matrix structural constituentGO:00052015.37
structural molecule activityGO:00051983.1