The KRT5 gene homepage

General information
Gene symbol KRT5
Gene name keratin 5
Chromosome 12
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NG_008297.1
Transcript reference NM_000424.3
Associated with diseases EBSB-1, Epidermolysis bullosa herpetiformis, Dowling-Meara, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex, Koebner type, epidermolysis bullosa, simplex, simplex, Weber-Cockayne type, Reticulate acropigmentation of Kitamura
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 18
Individuals with public variants 241
Hidden variants 0
Date created May 03, 2013
Date last updated February 08, 2021
Version KRT5:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 6442
Entrez Gene 3852
PubMed articles KRT5
OMIM - Gene 148040
OMIM - Diseases EBSB-1 (epidermolysis bullosa simplex, autosomal recessive, type 1 (EBSB-1))
Epidermolysis bullosa herpetiformis, Dowling-Meara
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Koebner type
epidermolysis bullosa, simplex, simplex, Weber-Cockayne type
Reticulate acropigmentation of Kitamura
Orphanet KRT5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010762 12 keratin 5 NM_000424.3 NP_000415.2 20


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