TGFB2
Chr 1ADtransforming growth factor beta 2
Also known as: CAEND2, G-TSF, LDS4, TGF-beta2
The protein functions as a secreted ligand that binds TGF-beta receptors to activate SMAD transcription factors and regulate gene expression throughout development. Mutations cause Camurati-Engelmann disease 2 (a bone dysplasia) and Loeys-Dietz syndrome 4 (a connective tissue disorder affecting the cardiovascular system, skeleton, and other organs), both inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variation in the general population.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 0 | 0 | 0 | 5 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 3 | 47 | 2 | 2 | 54 |
Likely Benign | 0 | 1 | 10 | 26 | 37 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 11 | 48 | 12 | 28 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TGFB2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools