STK17A

Chr 7

serine/threonine kinase 17a

Also known as: DRAK1

NCBI Gene: 9263ENSG00000164543UniProt: Q9UEE5

This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]

81
ClinVar variants
24
Pathogenic / LP
0.04
pLI score
0
Active trials
Clinical Summary— STK17A
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 53 VUS of 81 total submissions

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.
0.61LOEUF
pLI 0.040
Z-score 2.84
OE 0.31 (0.17–0.61)
Tolerant

Typical tolerance to LoF variation

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.
0.47Z-score
OE missense 0.91 (0.80–1.03)
183 obs / 201.6 exp
Tolerant

Mild missense constraint

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.0.31 (0.17–0.61)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.80–1.03)
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.0.99
0≤1.21.6
LoF obs/exp: 6 / 19.5Missense obs/exp: 183 / 201.6Syn Z: 0.09

ClinVar Variant Classifications

81 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic1
VUS53
Likely Benign3
Benign1
23
Pathogenic
1
Likely Pathogenic
53
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
1
0
1
VUS
0
47
6
0
53
Likely Benign
0
3
0
0
3
Benign
0
0
0
1
1
Total05030181

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

View in ClinVar →

Protein Context — Lollipop Plot

STK17A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Polymorphisms in STK17A gene are associated with systemic lupus erythematosus and its clinical manifestations.
da Silva Fonseca AM et al.·Gene
2013Review
Serine Threonine Kinase 17A Maintains the Epithelial State in Colorectal Cancer Cells.
Short SP et al.·Mol Cancer Res
2019
Predictive significance of STK17A in patients with gastric cancer and association with gastric cancer cell proliferation and migration.
Wang Z et al.·Oncol Rep
2021Cohort
Serine/threonine kinase 17A is a novel candidate for therapeutic targeting in glioblastoma.
Mao P et al.·PLoS One
2013
Genome-wide association study of non-tuberculous mycobacterial pulmonary disease.
Cho J et al.·Thorax
2021
Abnormal Localization of STK17A in Bile Canaliculi in Liver Allografts: An Early Sign of Chronic Rejection.
Ozeki M et al.·PLoS One
2015
Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults.
Zhang X et al.·Hum Genomics
2024
Quantification of hematopoietic stem and progenitor cells by targeted DNA methylation analysis.
Bocova L et al.·Clin Epigenetics
2023
Genetic Risk Factors for Nontuberculous Mycobacterial Pulmonary Disease (Systematic Review).
Sviridov PS et al.·Sovrem Tekhnologii Med
2024Review
Screening of obstructive sleep apnea and diabetes mellitus -related biomarkers based on integrated bioinformatics analysis and machine learning.
Yang J et al.·Sleep Breath
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools