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GeneE
26 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.
KRT17
keratin 17
Chromosome 17 Β· 17q21.2
NCBI Gene: 3872Ensembl: ENSG00000128422.19HGNC: HGNC:6427UniProt: Q04695
219PubMed Papers
22Diseases
0Drugs
18Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingintermediate filament cytoskeletoncytoskeletonepithelial cell differentiationpachyonychia congenita 2sebocystomatosispachyonychia congenitanonsyndromic congenital nail disorder 4
✦AI Summary

KRT17 is a type I keratin intermediate filament protein with diverse roles spanning epithelial homeostasis and disease pathogenesis. In normal physiology, KRT17 functions in hair follicle morphogenesis and is expressed in basal and wound-proximal keratinocytes, where it acts as a barrier alarmin promoting innate immune activation 1. KRT17 regulates epithelial proliferation through Akt/mTOR pathway signaling and modulates TNF function during hair cycling. In disease contexts, KRT17 exhibits context-dependent functions. In pulmonary fibrosis, KRT17+ epithelial cells represent a pathologic, ECM-producing population enriched in fibrotic lungs, and KRT17 expression marks dedifferentiated airway basal cells that promote fibroblast proliferation and extracellular matrix deposition 23. TGF-Ξ²1 signaling promotes transition to a KRT17+ basaloid epithelial state in IPF pathogenesis 4. Conversely, in colorectal cancer, KRT17 exerts protective immunity by promoting T-lymphocyte infiltration through YTHDF2-mediated CXCL10 upregulation, correlating with better clinical outcomes and immunotherapy response 5. In oral squamous cell carcinoma, KRT17 elevation drives cancer stemness and chemoresistance via integrin/FAK/Src/ERK/Ξ²-catenin signaling, while miRNA-485-5p suppression of KRT17 sensitizes tumors to chemotherapy 6. In psoriasis, KRT17+ keratinocytes co-localize with IL-23-producing dendritic cells and CD161+ IL-17+ T cells, suggesting involvement in autoimmune amplification 7.

Sources cited
1
KRT5-/KRT17+ pathologic, ECM-producing epithelial cell population highly enriched in pulmonary fibrosis lungs
PMID: 32832598
2
TGF-Ξ²1 signaling promotes KRT17+ basaloid AEC2 state in IPF, with sFRP2-induced transition to KRT5+ basal cells
PMID: 38980870
3
KRT17 upregulation in wound-proximal keratinocytes acts as barrier alarmin promoting proliferation and innate immune activation
PMID: 31374826
4
KRT17 drives oral cancer stemness and chemoresistance via integrin Ξ²4/FAK/Src/ERK/Ξ²-catenin pathway; miRNA-485-5p targets KRT17 to sensitize cells to chemotherapy
PMID: 35706019
5
IPF airway basal cells show KRT17high PTENlow dedifferentiated phenotype that induces fibroblast proliferation and fibrosis in vivo; SRC inhibition reverses these changes
PMID: 36163190
6
KRT17+ keratinocytes co-localize with IL-23-producing CCR7+ dendritic cells and CD161+ IL-17+ T cells in psoriatic skin
PMID: 40817122
7
KRT17 promotes T-lymphocyte infiltration in colorectal cancer through YTHDF2-CXCL10 axis; high KRT17 correlates with better outcomes and immunotherapy response
PMID: 37129929
8
KRT17 exerts suppressive role in lung cancer metastasis
PMID: 33479121
Disease Associationsβ“˜22
pachyonychia congenita 2Open Targets
0.82Strong
sebocystomatosisOpen Targets
0.76Strong
pachyonychia congenitaOpen Targets
0.47Moderate
Abnormality of the skinOpen Targets
0.34Weak
nonsyndromic congenital nail disorder 4Open Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
temporomandibular joint disorderOpen Targets
0.13Weak
sialolithiasisOpen Targets
0.13Weak
oral squamous cell carcinomaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
psoriasisOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
Alopecia-intellectual disability syndromeOpen Targets
0.11Weak
Alopecia universalisOpen Targets
0.10Weak
head and neck squamous cell carcinomaOpen Targets
0.09Suggestive
dysplasiaOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.09Suggestive
hypotrichosis simplexOpen Targets
0.08Suggestive
alopecia, androgenetic, 1Open Targets
0.08Suggestive
Pachyonychia congenita 2UniProt
Steatocystoma multiplexUniProt
Pathogenic Variants18
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)Pathogenic
Steatocystoma multiplex|not provided|Pachyonychia congenita 2|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 94
NM_000422.3(KRT17):c.281G>A (p.Arg94His)Pathogenic
Steatocystoma multiplex|not provided|Pachyonychia congenita 2|Pachyonychia congenita 2;Steatocystoma multiplex
β˜…β˜…β˜†β˜†2024β†’ Residue 94
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)Pathogenic
Pachyonychia congenita 2|not provided|Abnormality of the skin|Pachyonychia congenita 2;Steatocystoma multiplex
β˜…β˜…β˜†β˜†2024β†’ Residue 92
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp)Pathogenic
Pachyonychia congenita 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 92
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)Pathogenic
Pachyonychia congenita 2|not provided|Pachyonychia congenita 2;Steatocystoma multiplex
β˜…β˜…β˜†β˜†2021β†’ Residue 97
NM_000422.3(KRT17):c.281G>T (p.Arg94Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 94
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)Pathogenic
Pachyonychia congenita 2|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 99
NM_000422.3(KRT17):c.1163T>C (p.Leu388Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 388
NM_000422.3(KRT17):c.325A>G (p.Asn109Asp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 109
NM_000422.3(KRT17):c.960+5G>APathogenic
Nonsyndromic congenital nail disorder 4
β˜…β˜†β˜†β˜†2017
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro)Pathogenic
Pachyonychia congenita 2|not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 95
NM_000422.3(KRT17):c.304G>A (p.Val102Met)Pathogenic
Pachyonychia congenita 2|not provided
β˜†β˜†β˜†β˜†2002β†’ Residue 102
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del)Pathogenic
Pachyonychia congenita 2|not provided
β˜†β˜†β˜†β˜†2001β†’ Residue 94
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro)Pathogenic
Pachyonychia congenita 2|not provided
β˜†β˜†β˜†β˜†2001β†’ Residue 94
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln)Pathogenic
Pachyonychia congenita 2|not provided
β˜†β˜†β˜†β˜†2001β†’ Residue 95
NM_000422.3(KRT17):c.263T>C (p.Met88Thr)Pathogenic
Pachyonychia congenita 2|not provided
β˜†β˜†β˜†β˜†1999β†’ Residue 88
NM_000422.3(KRT17):c.274A>C (p.Asn92His)Pathogenic
Steatocystoma multiplex|not provided
β˜†β˜†β˜†β˜†1997β†’ Residue 92
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp)Pathogenic
Pachyonychia congenita 2|not provided
β˜†β˜†β˜†β˜†1997β†’ Residue 98
View on ClinVar β†—
Related Genes
SFNProtein interaction90%TXNDC9Protein interaction90%EGFRProtein interaction89%KRT6AProtein interaction81%KRT6BProtein interaction81%KRT14Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
46%
Lung
38%
Liver
7%
Heart
7%
Ovary
5%
Gene Interaction Network
Click a node to explore
KRT17SFNTXNDC9EGFRKRT6AKRT6BKRT14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q04695
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.87]
RankingsWhere KRT17 stands among ~20K protein-coding genes
  • #1,879of 20,598
    Most Researched219 Β· top 10%
  • #2,268of 5,498
    Most Pathogenic Variants18
  • #7,674of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedKRT17
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Single-cell RNA sequencing reveals profibrotic roles of distinct epithelial and mesenchymal lineages in pulmonary fibrosis.
PMID: 32832598
Sci Adv Β· 2020
1.00
2
A fibroblast-dependent TGF-Ξ²1/sFRP2 noncanonical Wnt signaling axis promotes epithelial metaplasia in idiopathic pulmonary fibrosis.
PMID: 38980870
J Clin Invest Β· 2024
0.90
3
Keratin 6, 16 and 17-Critical Barrier Alarmin Molecules in Skin Wounds and Psoriasis.
PMID: 31374826
Cells Β· 2019
0.80
4
Spatially Resolved Single-Cell Assessment of Pancreatic Cancer Expression Subtypes Reveals Co-expressor Phenotypes and Extensive Intratumoral Heterogeneity.
PMID: 36459568
Cancer Res Β· 2023
0.72
5
MicroRNA-485-5p targets keratin 17 to regulate oral cancer stemness and chemoresistance via the integrin/FAK/Src/ERK/Ξ²-catenin pathway.
PMID: 35706019
J Biomed Sci Β· 2022
0.70