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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KRT4
keratin 4
Chromosome 12 · 12q13.13
NCBI Gene: 3851Ensembl: ENSG00000170477.13HGNC: HGNC:6441UniProt: P19013
70PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoskeleton organizationkeratin filamentnucleuswhite sponge nevus 1White sponge nevusgenetic disorderoral squamous cell carcinoma
✦AI Summary

KRT4 (keratin 4) is a structural protein located on chromosome 12.2-q12 1 that functions as a component of intermediate filaments in the epithelial cytoskeleton, particularly in oral mucosa and esophageal tissue. As a differentiation marker, KRT4 expression is associated with epithelial maturation and is preferentially expressed in differentiated layers of normal tissues 2. Mechanistically, KRT4 suppresses proliferation and promotes differentiation in epithelial cells. In oral squamous cell carcinoma (OSCC), KRT4 is downregulated through m6A methylation of exon-intron boundaries, which prevents normal pre-mRNA splicing and reduces DGCR8 binding 3. KRT4 also functions as a tumor suppressor: its overexpression restrains OSCC cell proliferation and viability while facilitating apoptosis 4, and high KRT4 expression predicts favorable prognosis in esophageal cancer patients receiving chemoradiotherapy 2. Clinically, KRT4 mutations cause white sponge nevus (WSN), an autosomal dominant disorder characterized by thickened, spongy oral mucosa with abnormal keratinization 56. The E520K mutation leads to epithelial dysfunction with increased hyalocytes and altered tonofilament organization. KRT4 represents a potential therapeutic target for oral cancer treatment and a candidate for gene-based diagnosis and therapy in keratin-associated diseases.

Sources cited
1
KRT4 is located on chromosome 12, specifically the p11.2-q12 region
PMID: 1702379
2
Mutated KRT4 gene plays important roles in pathogenesis of white sponge nevus, with transgenic mice expressing KRT4 mutations showing epithelial dysfunction
PMID: 29738605
3
KRT4 mutations are associated with white sponge nevus, an autosomal dominant genetic disease affecting oral mucosa
PMID: 26021387
4
KRT4 is downregulated in OSCC through m6A methylation of exon-intron boundaries that suppresses intron splicing and prevents DGCR8 binding
PMID: 36811004
5
KRT4 is downregulated in OSCC; overexpression restrains cell proliferation and viability while promoting apoptosis
PMID: 35707935
6
KRT4 is a differentiation marker expressed preferentially in differentiated layers of normal esophageal mucosa; high KRT4 expression predicts favorable prognosis following chemoradiotherapy
PMID: 32124945
7
KRT4 was identified as a unique protein in the advanced age group in proteomic analysis of spermatozoa
PMID: 40649876
Disease Associationsⓘ21
white sponge nevus 1Open Targets
0.64Moderate
White sponge nevusOpen Targets
0.38Weak
genetic disorderOpen Targets
0.19Weak
oral squamous cell carcinomaOpen Targets
0.09Suggestive
Sjogren syndromeOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
blistering, acantholytic, of oral and laryngeal mucosaOpen Targets
0.06Suggestive
hereditary gingival fibromatosisOpen Targets
0.06Suggestive
chronic periodontitisOpen Targets
0.06Suggestive
periodontitisOpen Targets
0.06Suggestive
aggressive periodontitisOpen Targets
0.06Suggestive
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessiveOpen Targets
0.06Suggestive
KRT14-related epidermolysis bullosa simplexOpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
Griscelli disease type 3Open Targets
0.05Suggestive
Griscelli syndrome type 3Open Targets
0.05Suggestive
cleft palate with or without ankyloglossia, X-linkedOpen Targets
0.05Suggestive
pachyonychia congenita 1Open Targets
0.05Suggestive
hypertrichosis lanuginosa congenitaOpen Targets
0.05Suggestive
dyskeratosis congenitaOpen Targets
0.05Suggestive
White sponge nevus 1UniProt
Pathogenic Variants3
NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys)Pathogenic
White sponge nevus 1
☆☆☆☆2003→ Residue 435
NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys)Pathogenic
White sponge nevus 1
☆☆☆☆2000→ Residue 140
NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del)Pathogenic
White sponge nevus 1
☆☆☆☆1995→ Residue 146
View on ClinVar ↗
Related Genes
KRT13Protein interaction80%CRNNProtein interaction70%KRT76Shared pathway60%KRT3Shared pathway50%KRT77Shared pathway40%KRT79Shared pathway40%
Tissue Expression6 tissues
Lung
100%
Liver
76%
Ovary
40%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KRT4KRT13CRNNKRT76KRT3KRT77KRT79
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P19013
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.67–1.09]
RankingsWhere KRT4 stands among ~20K protein-coding genes
  • #6,728of 20,598
    Most Researched70
  • #4,033of 5,498
    Most Pathogenic Variants3
  • #11,081of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedKRT4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autophagy-based unconventional secretion of HMGB1 by keratinocytes plays a pivotal role in psoriatic skin inflammation.
PMID: 32019420
Autophagy · 2021
1.00
2
Negative regulation of miR-1288-3p/KRT4 axis through a circular RNA in oral cancer.
PMID: 35707935
J Biochem Mol Toxicol · 2022
0.90
3
Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization.
PMID: 1702379
Cytogenet Cell Genet · 1990
0.80
4
Age-Associated Proteomic Changes in Human Spermatozoa.
PMID: 40649876
Int J Mol Sci · 2025
0.70
5
Splice site m
PMID: 36811004
PeerJ · 2023
0.60