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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KRT40
keratin 40
Chromosome 17 · 17q21.2
NCBI Gene: 125115Ensembl: ENSG00000204889.11HGNC: HGNC:26707UniProt: G3V1C2
20PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural constituent of skin epidermismorphogenesis of an epitheliumepithelial cell differentiation
✦AI Summary

KRT40 is a type I keratin protein involved in hair and skin differentiation. It is expressed in the hair shaft, particularly in the fiber cuticle 1, and plays a role in late hair differentiation as part of the keratin intermediate filament network essential for hair structure. In hair follicle engineering, KRT40 is differentially expressed in the inner portion of reconstructed hair follicle-like structures 2, suggesting functional involvement in follicular epithelial organization. Beyond dermatological function, KRT40 is expressed in kidney tissue, where genome-wide association studies identified common variants associated with urinary uromodulin excretion levels 3. Modulation of KRT40 expression in thick ascending limb cells affects uromodulin processing, indicating a kidney-specific functional role. Network analysis in alopecia areata identified KRT40 as a hub gene associated with hair follicle pathobiology 4. Additionally, KRT40 expression is disrupted by environmental toxicants; PFOS exposure during early skin development altered KRT40 expression among other keratinocyte-related genes and impaired developmental signaling pathways 5. These findings suggest KRT40 functions as a structural protein in epithelial differentiation with tissue-specific roles in both hair and kidney physiology.

Sources cited
1
KRT40 is a type I keratin expressed in kidney, associated with urinary uromodulin levels, and affects uromodulin processing in thick ascending limb cells
PMID: 35228297
2
KRT40 identified as hub gene in network analysis associated with alopecia areata pathobiology
PMID: 35983595
3
KRT40 is included in darkgreen module with hub KRT genes related to hair follicle development, keratinocyte proliferation, and cell cycle regulation
PMID: 35085710
4
KRT40 is among high-abundant hair shaft keratin proteins identified in hair samples
PMID: 31590061
5
KRT40 included in NanoString gene expression panel for NSCLC histological classification
PMID: 30914778
6
KRT40 differentially expressed in inner portion of reconstructed hair follicle-like structures with DP and KC constructs
PMID: 34409023
7
KRT40 expressed only in fiber cuticle in sheep hair, as species-specific keratin gene with specialized compartmentalization
PMID: 21554405
8
KRT40 expression disrupted by PFOS exposure during early embryonic skin development among keratinocyte-related genes
PMID: 38163615
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KRT38Shared pathway100%KRT37Shared pathway100%KRT23Shared pathway100%LOC100653049Shared pathway100%KRT39Shared pathway100%KRT26Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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KRT40KRT38KRT37KRT23LOC100653049KRT39KRT26
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6A162
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.79–1.31]
RankingsWhere KRT40 stands among ~20K protein-coding genes
  • #14,184of 20,598
    Most Researched20
  • #13,746of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedKRT40
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.
PMID: 35228297
J Am Soc Nephrol · 2022
1.00
2
CHAC1 as a novel biomarker for distinguishing alopecia from other dermatological diseases and determining its severity.
PMID: 35983595
IET Syst Biol · 2022
0.88
3
Genome-wide identification, characterization, and expression analysis of keratin genes (KRTs) family in yak (Bos grunniens).
PMID: 35085710
Gene · 2022
0.75
4
Assessing protein sequencing in human single hair shafts of decreasing lengths.
PMID: 31590061
Forensic Sci Int Genet · 2020
0.63
5
A combined gene expression tool for parallel histological prediction and gene fusion detection in non-small cell lung cancer.
PMID: 30914778
Sci Rep · 2019
0.50