TGM6

Chr 20AD

transglutaminase 6

Also known as: SCA35, TG6, TGM3L, TGY, dJ734P14.3

NCBI Gene: 343641ENSG00000166948UniProt: O95932OMIM: 613900

The protein catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations cause spinocerebellar ataxia 35, a cerebellar disorder with autosomal dominant inheritance. The gene shows minimal constraint against loss-of-function variants based on population genetics data.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ADLOEUF 1.371 OMIM phenotype
Clinical Summary— TGM6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
3 unique Pathogenic / Likely Pathogenic· 129 VUS of 200 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.37LOEUF
pLI 0.000
Z-score -0.19
OE 1.03 (0.79–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.82Z-score
OE missense 1.11 (1.03–1.20)
470 obs / 422.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.03 (0.79–1.37)
0≤0.351.4
Missense OE1.11 (1.03–1.20)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 36 / 34.8Missense obs/exp: 470 / 422.6Syn Z: -0.32

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1
Likely Pathogenic2
VUS129
Likely Benign52
Benign7
Conflicting8
1
Pathogenic
2
Likely Pathogenic
129
VUS
52
Likely Benign
7
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
2
0
0
0
2
VUS
13
108
7
1
129
Likely Benign
2
6
13
31
52
Benign
1
0
5
1
7
Conflicting
—8
Total181142633199

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TGM6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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