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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRT6A
keratin 6A
Chromosome 12 Β· 12q13.13
NCBI Gene: 3853Ensembl: ENSG00000205420.11HGNC: HGNC:6443UniProt: A0A0S2Z428
142PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusmembraneintermediate filament cytoskeletonextracellular exosomepachyonychia congenitapachyonychia congenita 1skin diseasegenetic disorder
✦AI Summary

KRT6A (keratin 6A) is an epidermis-specific type I intermediate filament protein that plays crucial roles in skin barrier function, wound healing, and inflammatory responses. KRT6A expression is markedly upregulated in response to skin barrier disruption and inflammatory conditions, serving as a barrier alarmin 1. The protein promotes skin inflammation through activation of the JAK1-STAT3 signaling pathway by inhibiting RNF41-mediated JAK1 ubiquitination, leading to enhanced proinflammatory cytokine expression in keratinocytes 1. KRT6A expression is elevated in inflammatory skin diseases including psoriasis and atopic dermatitis, where it contributes to disease pathogenesis 23. Beyond skin biology, KRT6A demonstrates broader cellular functions including restriction of influenza A virus replication by inhibiting nuclear import of viral ribonucleoprotein complexes 4. In cancer contexts, KRT6A acts as an oncogene in non-small cell lung cancer, where elevated expression correlates with poor prognosis and smoking history 5. The protein also serves as a biomarker for lineage plasticity in KRAS-mutant lung cancers, where its expression marks an intermediate plastic cell state associated with resistance to KRAS inhibitors 6. These diverse functions highlight KRT6A's importance in maintaining tissue integrity and cellular responses to stress.

Sources cited
1
KRT6A promotes skin inflammation through JAK1-STAT3 activation and is elevated in rosacea and psoriasis
PMID: 40346694
2
KRT6A expression is upregulated in psoriasis and contributes to neutrophil recruitment
PMID: 37967009
3
KRT6A shows characteristic upregulation in atopic dermatitis
PMID: 32344053
4
KRT6A restricts influenza A virus replication by inhibiting nuclear import of viral ribonucleoprotein complexes
PMID: 40431683
5
KRT6A acts as an oncogene in non-small cell lung cancer and correlates with smoking history and poor prognosis
PMID: 35071014
6
KRT6A marks an intermediate plastic cell state in KRAS-mutant lung cancers associated with resistance to KRAS inhibitors
PMID: 38402609
Disease Associationsβ“˜21
pachyonychia congenitaOpen Targets
0.83Strong
pachyonychia congenita 1Open Targets
0.46Moderate
skin diseaseOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
skin cancerOpen Targets
0.14Weak
basal cell carcinomaOpen Targets
0.14Weak
common wartOpen Targets
0.14Weak
non-melanoma skin carcinomaOpen Targets
0.11Weak
seborrheic keratosisOpen Targets
0.10Suggestive
skin neoplasmOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
rosaceaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
psoriasisOpen Targets
0.07Suggestive
COVID-19Open Targets
0.07Suggestive
lung cancerOpen Targets
0.06Suggestive
actinic keratosisOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
Pachyonychia congenita 3UniProt
Pathogenic Variants29
NM_005554.4(KRT6A):c.1460-1G>CPathogenic
Pachyonychia congenita 3|not provided
β˜…β˜…β˜†β˜†2025
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del)Pathogenic
Pachyonychia congenita 3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 172
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)Pathogenic
Pachyonychia congenita 3|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 472
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)Pathogenic
not provided|Pachyonychia congenita 3
β˜…β˜…β˜†β˜†2021β†’ Residue 171
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)Pathogenic
not provided|Pachyonychia congenita 3
β˜…β˜…β˜†β˜†2021β†’ Residue 171
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn)Pathogenic
not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 462
NM_005554.4(KRT6A):c.487G>A (p.Glu163Lys)Pathogenic
not provided|Pachyonychia congenita 3
β˜…β˜…β˜†β˜†2016β†’ Residue 163
NM_005554.4(KRT6A):c.1393T>G (p.Tyr465Asp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 465
NM_005554.4(KRT6A):c.817-2A>GLikely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2024
NM_005554.4(KRT6A):c.1382A>G (p.Glu461Gly)Likely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2024β†’ Residue 461
NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)Likely pathogenic
not provided|Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2024β†’ Residue 461
NM_005554.4(KRT6A):c.520T>A (p.Phe174Ile)Likely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2024β†’ Residue 174
NM_005554.4(KRT6A):c.1203+1G>ALikely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2023
NM_005554.4(KRT6A):c.1460-2A>CLikely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2023
NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 463
NM_005554.4(KRT6A):c.1388C>T (p.Ala463Val)Likely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2022β†’ Residue 463
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)Pathogenic
not provided|Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2022β†’ Residue 469
NM_005554.4(KRT6A):c.1418dup (p.Cys474fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 474
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)Likely pathogenic
Pachyonychia congenita 3
β˜…β˜†β˜†β˜†2022β†’ Residue 461
NM_005554.4(KRT6A):c.490C>T (p.Arg164Cys)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 164
View on ClinVar β†—
Related Genes
SPRR1AProtein interaction100%KRT13Protein interaction90%KRT16Protein interaction87%KRT6BProtein interaction84%KRT17Protein interaction81%SPRR3Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Lung
64%
Ovary
60%
Bone Marrow
10%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KRT6ASPRR1AKRT13KRT16KRT6BKRT17SPRR3
PROTEIN STRUCTURE
Preparing viewer…
PDB5KI0 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.41–0.76]
RankingsWhere KRT6A stands among ~20K protein-coding genes
  • #3,223of 20,598
    Most Researched142 Β· top quartile
  • #1,841of 5,498
    Most Pathogenic Variants29
  • #6,011of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedKRT6A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Adeno-to-squamous transition drives resistance to KRAS inhibition in LKB1 mutant lung cancer.
PMID: 38402609
Cancer Cell Β· 2024
1.00
2
Keratinocyte FABP5-VCP complex mediates recruitment of neutrophils in psoriasis.
PMID: 37967009
Cell Rep Β· 2023
0.90
3
Single-cell transcriptomics combined with interstitial fluid proteomics defines cell type-specific immune regulation in atopic dermatitis.
PMID: 32344053
J Allergy Clin Immunol Β· 2020
0.80
4
Keratin 6A promotes skin inflammation through JAK1-STAT3 activation in keratinocytes.
PMID: 40346694
J Biomed Sci Β· 2025
0.70
5
Sunitinib decreases the expression of KRT6A and SERPINB1 in 3D human epidermal models.
PMID: 33135264
Exp Dermatol Β· 2021
0.60