Gene table of COL8A2 : collagen type VIII alpha 2 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL8A2OMIM linkNumber of associated genesgenes
PS122000CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUSClinVar, OMIM, HUMSAVAR link to OMIM 4OVOL2, ZEB1, VSX1, COL8A2
PS136800CORNEAL DYSTROPHY, FUCHS ENDOTHELIALClinVar, OMIM, HUMSAVAR link to OMIM 5SLC4A11, AGBL1, ZEB1, COL8A2, TCF4

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Annotation of the gene COL8A2

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
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Integrin cell surface interactionsR-HSA-2160836.57
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
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
protein binding, bridgingGO:00306744.68
extracellular matrix structural constituentGO:00052015.37
structural molecule activityGO:00051983.1
bindingGO:00054880.18
protein bindingGO:00055150.46
binding, bridgingGO:00600904.57