KRT2

Chr 12q13.13

keratin 2

Aliases:: KRTE
MANE:: ENST00000309680.4

OMIM: 600194 ↗NCBI: 3849 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KRT2 · P35908

v62025-08-01

Predicted Aligned Error matrix for KRT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

639 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)13%
Low(50–70)6%
Very low(< 50)48%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Palmoplantar keratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Peeling skin syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

superficial epidermolytic ichthyosis
0.81
exfoliative ichthyosis
0.36
hereditary disease
0.19
Vertigo
0.18
erythrokeratodermia variabilis
0.11
lamellar ichthyosis
0.10
Dowling-Degos disease
0.10
Localized epidermolysis bullosa simplex
0.10
epidermolysis bullosa simplex 2E, with migratory circinate erythema
0.10
Epidermolysis bullosa simplex with circinate migratory erythema
0.10

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

Protein function (UniProt)

Keratin, type II cytoskeletal 2 epidermal

Structural component of intermediate filaments in suprabasal keratinocytes of stratified epidermis. Forms heteropolymers with type I keratins (e.g., KRT10), assembling into keratin intermediate filament networks that support mechanical integrity and resilience of the differentiating epidermis (PubMed:12598329, PubMed:1380918). Contributes to terminal differentiation and cornification of keratinocytes and plays a role in establishing the epidermal barrier (PubMed:9804344)