STK32A

Chr 5

serine/threonine kinase 32A

Also known as: YANK1

NCBI Gene: 202374ENSG00000169302UniProt: Q8WU08

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
12
Pathogenic / LP
115
ClinVar variants
4
Pubs (1 yr)
0.6
Missense Z
0.98
LOEUF
Clinical Summary— STK32A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 98 VUS of 115 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.98LOEUF
pLI 0.000
Z-score 1.64
OE 0.63 (0.41–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.58Z-score
OE missense 0.89 (0.79–1.00)
188 obs / 211.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.63 (0.41–0.98)
0≤0.351.4
Missense OE0.89 (0.79–1.00)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 14 / 22.3Missense obs/exp: 188 / 211.7Syn Z: -0.59
GOFDN
DN
0.7326th %ile
GOF
0.75top 25%
LOF
0.2678th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

115 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
VUS98
Likely Benign3
Benign2
12
Pathogenic
98
VUS
3
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
0
0
0
VUS
0
93
5
0
98
Likely Benign
0
0
2
1
3
Benign
0
0
1
1
2
Total093202115

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

View in ClinVar →

STK32A · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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