TMPRSS13

Chr 11

transmembrane serine protease 13

Also known as: MSP, MSPL, MSPS, TMPRSS11

NCBI Gene: 84000 ENSG00000137747 UniProt: Q9BYE2 OMIM: 610050

This gene encodes a member of the type II transmembrane serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.90LOEUF

pLI 0.000

Z-score 1.99

OE 0.60 (0.41–0.90)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.01Z-score

OE missense 0.85 (0.77–0.93)

288 obs / 340.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.60 (0.41–0.90)

0≤0.351.4

Missense OE?0.85 (0.77–0.93)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 17 / 28.4Missense obs/exp: 288 / 340.6Syn Z: 0.55

Background carrier burden — how many people carry a rare variant somewhere in TMPRSS13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 54

796 rare PASS variants

Rare truncating (LoF)

1 in 600

123 rare PASS variants

Rare synonymous (reference)

1 in 160

336 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMPRSS13. 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 420
South Asian	~43k	1 in 41	1 in 740
Remaining (unassigned)	~30k	1 in 40	1 in 1,600
European (Finnish)	~27k	1 in 190	1 in 2,700
Admixed American	~22k	1 in 57	1 in 310
African / African American	~21k	1 in 75	1 in 470
East Asian	~20k	1 in 81	1 in 2,400
Ashkenazi Jewish	~13k	1 in 250	none seen
Middle Eastern	~2,884	1 in 74	≈ 1 in 720

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): All 13 coding exons well covered in gnomAD exomes and genomes.? see exons ↓