STK17B

Chr 2

serine/threonine kinase 17b

Also known as: DRAK2

NCBI Gene: 9262ENSG00000081320UniProt: O94768OMIM: 604727

STK17B encodes a serine/threonine kinase that phosphorylates myosin light chains and acts as a positive regulator of apoptosis through intracellular signaling pathways. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.715), suggesting some intolerance to complete protein loss.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.71
Clinical Summary— STK17B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 unique Pathogenic / Likely Pathogenic· 30 VUS of 75 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.71LOEUF
pLI 0.014
Z-score 2.41
OE 0.36 (0.20–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.58Z-score
OE missense 0.67 (0.58–0.78)
122 obs / 182.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.36 (0.20–0.71)
0≤0.351.4
Missense OE0.67 (0.58–0.78)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 6 / 16.6Missense obs/exp: 122 / 182.2Syn Z: 0.41

ClinVar Variant Classifications

75 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic1
VUS30
Likely Benign2
32
Pathogenic
1
Likely Pathogenic
30
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
32
0
32
Likely Pathogenic
0
0
1
0
1
VUS
0
28
2
0
30
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total03035065

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

View in ClinVar →

Protein Context — Lollipop Plot

STK17B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Serine/threonine kinase 17b (STK17B) signalling regulates Purkinje cell dendritic development and is altered in multiple spinocerebellar ataxias
Wu QW et al.·Eur J Neurosci
2021
Understanding the P-Loop Conformation in the Determination of Inhibitor Selectivity Toward the Hepatocellular Carcinoma-Associated Dark Kinase STK17B
Liu C et al.·Front Mol Biosci
2022
STK17B promotes the progression of ovarian cancer
Jiang L et al.·Ann Transl Med
2021
Mechanistic Insights into the Mechanism of Inhibitor Selectivity toward the Dark Kinase STK17B against Its High Homology STK17A
Liu C et al.·Molecules
2022Functional
Comprehensive Analysis Based on Genes Associated With Cuproptosis, Ferroptosis, and Pyroptosis for the Prediction of Diagnosis and Therapies in Coronary Artery Disease
Zhang Y et al.·Cardiovasc Ther
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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