KRT17

Chr 17AD

keratin 17

Also known as: 39.1, CK-17, K17, PC2, PCHC1

NCBI Gene: 3872UniProt: Q04695

This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]

Primary Disease Associations & Inheritance

Pachyonychia congenita 2MIM #167210
AD
Steatocystoma multiplexMIM #184500
AD
1
Active trials
24
Pathogenic / LP
185
ClinVar variants
9
Pubs (1 yr)
-0.5
Missense Z
1.34
LOEUF
Clinical Summary— KRT17
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 77 VUS of 185 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
📖
GeneReview available — KRT17
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.34LOEUF
pLI 0.000
Z-score 0.40
OE 0.90 (0.62–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.49Z-score
OE missense 1.09 (0.98–1.20)
283 obs / 260.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.90 (0.62–1.34)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.09 (0.98–1.20)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.14
0≤1.21.6
LoF obs/exp: 18 / 19.9Missense obs/exp: 283 / 260.6Syn Z: -1.19

ClinVar Variant Classifications

185 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic4
VUS77
Likely Benign48
Benign34
Conflicting2
20
Pathogenic
4
Likely Pathogenic
77
VUS
48
Likely Benign
34
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
12
8
0
20
Likely Pathogenic
0
3
1
0
4
VUS
1
71
5
0
77
Likely Benign
0
16
12
20
48
Benign
0
8
12
14
34
Conflicting
—2
Total11103834185

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KRT17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

KRT17-related pachyonychia congenita, Jackson-Lawler type

definitive
ADDominant NegativeAltered Gene Product Structure
Skin
G2P ↗

KRT17-related steatocystoma multiplex

definitive
ADLoss Of FunctionAbsent Gene Product
Skin
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Pachyonychia congenita 2

MIM #167210

Molecular basis of disorder known

Autosomal dominant

Steatocystoma multiplex

MIM #184500

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Airway basal cells show a dedifferentiated KRT17(high)Phenotype and promote fibrosis in idiopathic pulmonary fibrosis.
Jaeger B et al.·Nat Commun
2022
CCR7(+) dendritic cells expressing both IL-23A and IL-12B potentially contribute to psoriasis relapse.
Sun Y et al.·Nat Commun
2025
KRT17 Promotes T-lymphocyte Infiltration Through the YTHDF2-CXCL10 Axis in Colorectal Cancer.
Liang W et al.·Cancer Immunol Res
2023
Persister cell phenotypes contribute to poor patient outcomes after neoadjuvant chemotherapy in PDAC.
Zhou X et al.·Nat Cancer
2023
Modeling fibrotic alveolar transitional cells with pluripotent stem cell-derived alveolar organoids.
Ptasinski V et al.·Life Sci Alliance
2023Functional
Redefining phenotypic intratumor heterogeneity of pancreatic ductal adenocarcinoma: a bottom-up approach.
Hilmi M et al.·J Pathol
2025
Reduced Expression of KRT17 Predicts Poor Prognosis in HER2(high) Breast Cancer.
Tang S et al.·Biomolecules
2022
Transcriptome-based classification to predict FOLFIRINOX response in a real-world metastatic pancreatic cancer cohort.
Lansbergen MF et al.·Transl Res
2024Cohort
Single-Cell Transcriptomic Analysis Reveals an Aggressive Basal-Like Tumor Cell Subpopulation Associated With Poor Prognosis in Intrahepatic Cholangiocarcinoma.
Liao C et al.·J Gastroenterol Hepatol
2025
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.
Pavlovsky M et al.·Br J Dermatol
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
The Role of Keratin17 in Human Tumours
Zhang H et al.·Front Cell Dev Biol
2022
KRT17 Promotes the Activation of HSCs via EMT in Liver Fibrosis
Chen J et al.·J Clin Transl Hepatol
2022
Keratin 17 upregulation promotes cell metastasis and angiogenesis in colon adenocarcinoma
Ji R et al.·Bioengineered
2021
Promoter Methylation Changes in KRT17: A Novel Epigenetic Marker for Wool Production in Angora Rabbit
Chen Y et al.·Int J Mol Sci
2022
Low Expression of Keratin17 is Related to Poor Prognosis in Bladder Cancer
Wu J et al.·Onco Targets Ther
2021
The role of KRT17 in colorectal cancer
Ujiie D et al.·Aging (Albany NY)
2021
A novel KRT17-hnRNP K-CXCR3 axis promotes esophageal squamous cell carcinoma metastasis via nuclear-cytoplasmic redistribution
Yu S et al.·Sci Rep
2026
The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa
Wang H et al.·Front Genet
2024
Identification of Proteomic Signatures in Chronic Obstructive Pulmonary Disease Emphysematous Phenotype
Bai S et al.·Front Mol Biosci
2021
Top 9 full-text resultsSearch PubTator3 ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients