Gene table of COL27A1 : collagen type XXVII alpha 1 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL27A1OMIM linkNumber of associated genesgenes
615155STEEL SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1COL27A1

Download the gene annotation in CSV format

Annotation of the gene COL27A1

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 pathwayKEGG IDKEGG IC
Platelet activationhsa046115.66
Protein digestion and absorptionhsa049746.2
Amoebiasishsa051465.82
Focal adhesionhsa045104.92
ECM-receptor interactionhsa045126.09
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.2
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
extracellular matrix structural constituentGO:00052015.37
structural molecule activityGO:00051983.1
ion bindingGO:00431671.36
bindingGO:00054880.18
metal ion bindingGO:00468721.41