Gene table of KRT5 : keratin 5

Gene-disease associations table

Disease IDDisease nameSource of annotation with KRT5OMIM linkNumber of associated genesgenes
PS179850RETICULATE PIGMENT DISORDERSClinVar, OMIM link to OMIM 5ADAM10, POFUT1, POGLUT1, ADAR, KRT5
131800EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZEDClinVar, OMIM, HUMSAVAR link to OMIM 3KRT14, ITGB4, KRT5
601001EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1ClinVar, OMIM link to OMIM 2KRT14, KRT5
131960EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATIONClinVar, OMIM, HUMSAVAR link to OMIM 1KRT5
131760EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPEClinVar, OMIM, HUMSAVAR link to OMIM 2KRT14, KRT5
609352EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMAOMIM link to OMIM 1KRT5
131900EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZEDClinVar, OMIM, HUMSAVAR link to OMIM 2KRT14, KRT5

Download the gene annotation in CSV format

Annotation of the gene KRT5

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

The gene is in the tandem Group 573, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Cell-Cell communicationR-HSA-15009315.87
Cell junction organizationR-HSA-4467286.51
Type I hemidesmosome assemblyR-HSA-4461079.52
Associated GO terms for Molecular function
GO termGO IDGO IC
structural constituent of cytoskeletonGO:00052005.12
scaffold protein bindingGO:00971105.93
bindingGO:00054880.18
protein bindingGO:00055150.46
structural molecule activityGO:00051983.1