TGM4
Chr 3transglutaminase 4
Also known as: TGP, hTGP
The protein catalyzes cross-linking of proteins and conjugation of polyamines to specific proteins, primarily functioning in the male reproductive tract. Mutations in this gene have not been established to cause any recognized human genetic diseases. The gene shows very low constraint against loss-of-function variants, indicating tolerance to complete gene loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
119 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 | 0 | 0 | 6 | 0 | 6 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 93 | 3 | 0 | 96 |
Likely Benign | 0 | 2 | 0 | 3 | 5 |
Benign | 0 | 1 | 0 | 3 | 4 |
| Total | 1 | 96 | 10 | 6 | 113 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TGM4 · 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