STK17B

Chr 2

serine/threonine kinase 17b

Also known as: DRAK2

NCBI Gene: 9262 ENSG00000081320 UniProt: O94768 OMIM: 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.

OMIM ResearchSummary from RefSeq, UniProt

Enables ATP binding activity and protein serine/threonine kinase activity. Involved in intracellular signal transduction; positive regulation of fibroblast apoptotic process; and protein phosphorylation. Located in Flemming body and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.71

Clinical Summary— STK17B

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

28 VUS of 40 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 OE?0.36 (0.20–0.71)

0≤0.351.4

Missense OE?0.67 (0.58–0.78)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 6 / 16.6Missense obs/exp: 122 / 182.2Syn Z: 0.41

ClinVar Variant Classifications

40 submitted variants in ClinVar

ClinVar

Classification Summary

VUS28

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	28	28
Likely Benign	2	2
Benign	0	0
Total	30	30

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

View in ClinVar →

33 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap STK17B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →