TMSB4X

Chr X

thymosin beta 4 X-linked

Also known as: FX, PTMB4, TB4X, TMSB4

This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOEUF 1.67
Clinical SummaryTMSB4X
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
📋
ClinVar Variants
12 total variants — no pathogenic classifications of 12 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.67LOEUF
pLI 0.412
Z-score 1.00
OE 0.00 (0.001.67)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.98Z-score
OE missense 0.27 (0.130.63)
4 obs / 14.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.001.67)
00.351.4
Missense OE?0.27 (0.130.63)
00.61.4
Synonymous OE?1.68
01.21.6
LoF obs/exp: 0 / 1.2Missense obs/exp: 4 / 14.6Syn Z: -1.42

ClinVar Variant Classifications

12 submitted variants in ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total0

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

83 pathogenic / likely-pathogenic (of 88) ClinVar copy-number / structural variants overlap TMSB4X — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TMSB4X · 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.

Search ClinicalTrials.gov →