TMPRSS7

Chr 3

transmembrane serine protease 7

NCBI Gene: 344805 ENSG00000176040 UniProt: Q7RTY8

The protein is a serine protease that preferentially cleaves peptides with arginine at the P1 position and is predicted to be active at the plasma membrane. This gene is not highly constrained against loss-of-function variants (pLI near 0, LOEUF >1). No established disease associations have been reported for TMPRSS7 mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable serine-type peptidase activity. Predicted to be involved in protein processing. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.10LOEUF

pLI 0.000

Z-score 1.07

OE 0.81 (0.61–1.10)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.40Z-score

OE missense 0.94 (0.86–1.03)

370 obs / 392.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.81 (0.61–1.10)

0≤0.351.4

Missense OE?0.94 (0.86–1.03)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 31 / 38.1Missense obs/exp: 370 / 392.4Syn Z: -0.21

Background carrier burden — how many people carry a rare variant somewhere in TMPRSS7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 39

1,036 rare PASS variants

Rare truncating (LoF)

1 in 250

175 rare PASS variants

Rare synonymous (reference)

1 in 71

393 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMPRSS7. 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 62	1 in 350
South Asian	~43k	1 in 41	1 in 180
Remaining (unassigned)	~30k	1 in 39	1 in 210
European (Finnish)	~27k	1 in 150	1 in 1,100
Admixed American	~22k	1 in 38	1 in 230
African / African American	~21k	1 in 49	1 in 600
East Asian	~20k	1 in 48	1 in 620
Ashkenazi Jewish	~13k	1 in 220	1 in 720
Middle Eastern	~2,884	1 in 33	1 in 120

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 12 of 18 coding exons well covered in gnomAD exomes; exons 1, 2, 6 poorly covered; exons 8, 9, 15 marginal. Genomes: all 18.? see exons ↓