TWSG1

Chr 18

twisted gastrulation BMP signaling modulator 1

Also known as: TSG

Enables transforming growth factor beta binding activity. Involved in negative regulation of CD4-positive, alpha-beta T cell proliferation; negative regulation of cytokine production; and positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.03
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.006
Z-score 1.51
OE 0.49 (0.261.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.95Z-score
OE missense 0.76 (0.650.90)
97 obs / 127.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.261.03)
00.351.4
Missense OE?0.76 (0.650.90)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 5 / 10.2Missense obs/exp: 97 / 127.2Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TWSG1 · 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

No active trials found for this gene.

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