STRADA

Chr 17AR

STE20 related adaptor alpha

Also known as: LYK5, NY-BR-96, PMSE, STLK5, STRAD, STRAD alpha, Stlk

NCBI Gene: 92335ENSG00000266173UniProt: Q7RTN6OMIM: 608626

The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Polyhydramnios, megalencephaly, and symptomatic epilepsyMIM #611087
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the established mechanism, though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
4
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
LOF
Mechanism· annotated
📖
GeneReview available — STRADA
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.36
OE 0.50 (0.33–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.49Z-score
OE missense 0.74 (0.66–0.83)
190 obs / 257.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.33–0.80)
0≤0.351.4
Missense OE?0.74 (0.66–0.83)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 13 / 26.0Missense obs/exp: 190 / 257.2Syn Z: 0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STRADA · protein map & ClinVar variants

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

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