STRAP

Chr 12

serine/threonine kinase receptor associated protein

Also known as: MAWD, PT-WD, UNRIP

NCBI Gene: 11171ENSG00000023734UniProt: Q9Y3F4

Enables RNA binding activity. Involved in maintenance of gastrointestinal epithelium and spliceosomal snRNP assembly. Acts upstream of with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytosol. Part of SMN complex. Implicated in adenocarcinoma; colorectal carcinoma; large cell carcinoma; lung carcinoma; and squamous cell neoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
7
Active trials
243
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.38
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.38LOEUF
pLI 0.901
Z-score 3.60
OE 0.14 (0.07–0.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.08Z-score
OE missense 0.57 (0.49–0.67)
106 obs / 185.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.14 (0.07–0.38)
0≤0.351.4
Missense OE?0.57 (0.49–0.67)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 3 / 20.7Missense obs/exp: 106 / 185.5Syn Z: 1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STRAP · 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
Muscular Dystrophy, Facioscapulohumeral

Clenbuterol to Target DUX4 in FSHD

RECRUITING
NCT06721299Phase PHASE1Jeffrey StatlandStarted 2025-06-25
Clenbuterol
ExerciseOverreachingButyrate

Impact of Training Load on the Gut miCrobiome And Its Relation to exeRcise Performance, mUscle Phenotype, and markerS of Overreaching in Healthy Men

RECRUITING
NCT07481578Phase NAStefan De SmetStarted 2024-10-07
SupplementModerate load exercise trainingHigh load exercise training
Chronic Low Back Pain (Non-specific, Uncomplicated)Chronic Low Back Pain (CLBP)

Chronic Low Back Pain Comorbidities: Unravelling Impaired Glucose Metabolism

NOT YET RECRUITING
NCT07734714Phase NAVrije Universiteit BrusselStarted 2026-07
Glucose beverageIsomaltulose beverageStandardized breakfast
StrokeRehabilitationRehabilitation Outcome

Stroke Rehabilitation Through Intensive Exercise

NOT YET RECRUITING
NCT07650500Phase NAThe Swedish School of Sport and Health SciencesStarted 2026-08-01
LE-mCIMT-EXELE- mCIMT-TAU
Muscular DystrophyFacioscapulohumeral

Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study

ACTIVE NOT RECRUITING
NCT04038138Phase NACentre Hospitalier Universitaire de NiceStarted 2019-09-16
Validation of new COA for FSHD patients
Neuromuscular Diseases

The Neuroimage Study of the Neuromuscular Disorders.

RECRUITING
NCT05048862National Taiwan University HospitalStarted 2021-08-01
Neuromuscular ultrasoundMuscle MRINerve conduction studies and autonomic function tests
ObesityMetabolic DiseaseCold Exposure

Thermogenic Silencer Regulatory Factors in Humans

ACTIVE NOT RECRUITING
NCT06424132Phase NARockefeller UniversityStarted 2024-08-16
Cold Vest Exposure PeriodRewarming Exposure PeriodFasting

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