TGM7

Chr 15

transglutaminase 7

Also known as: TGMZ

NCBI Gene: 116179 ENSG00000159495 UniProt: Q96PF1

Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TGM7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 63

976 rare PASS variants

Rare truncating (LoF)

1 in 590

153 rare PASS variants

Rare synonymous (reference)

1 in 110

374 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TGM7. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 83	1 in 670
South Asian	~43k	1 in 53	1 in 710
Remaining (unassigned)	~30k	1 in 56	1 in 460
European (Finnish)	~27k	1 in 150	1 in 1,600
Admixed American	~22k	1 in 58	1 in 500
African / African American	~21k	1 in 40	1 in 990
East Asian	~20k	1 in 51	1 in 470
Ashkenazi Jewish	~13k	1 in 250	1 in 810
Middle Eastern	~2,884	1 in 43	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 13 of 13 coding exons well covered in gnomAD exomes. Genomes: 12 of 13 (exon 2 below).? see exons ↓