KRT5

Chr 12q13.13

keratin 5

Aliases:: KRT5A, CK-5
MANE:: ENST00000252242.9

OMIM: 148040 ↗NCBI: 3852 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

KRT5 · P13647

v62025-08-01

Predicted Aligned Error matrix for KRT5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

590 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)10%
Low(50–70)5%
Very low(< 50)45%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Epidermolysis bullosa
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

epidermolysis bullosa simplex 2C, localized
0.77
epidermolysis bullosa simplex 2A, generalized severe
0.76
epidermolysis bullosa simplex 2B, generalized intermediate
0.76
Dowling-Degos disease 1
0.70
Epidermolysis bullosa simplex with mottled pigmentation
0.69
Epidermolysis bullosa simplex, Dowling-Meara type
0.68
Localized epidermolysis bullosa simplex
0.67
epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
0.66
epidermolysis bullosa simplex
0.65
Dowling-Degos disease
0.64

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Keratin, type II cytoskeletal 5

Structural component of intermediate filaments in basal keratinocytes of stratified epithelia. Together with its obligate type I partner KRT14, contributes to the formation of the keratin intermediate filament network that provides mechanical stability and resilience to the basal layer of the epidermis (PubMed:1372711, PubMed:1694855). Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity)

Curated MONDO disease pages that list KRT5 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with KRT5