TMPRSS11A

protein-coding

transmembrane serine protease 11A, the group of Type II transmembrane serine proteases

Gene summary

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

MANE transcript

NM_001114387.2

Inheritance

—

ClinVar variants

U:62B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr4:67,909,395-67,964,140

External References & Databases

Ensembl (ENSG00000187054)

Transcript & Mutation Effects

hg38 • Region Span ~54.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TMPRSS11A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 64

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001114387.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			60 clinvar	3 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	62	4	0	66

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001114387.2	RefSeq	NP_001107859.1	10	MANE Select
ENST00000508048.6	Ensembl	ENSP00000426911.2	10	MANE Select
NM_182606.4	RefSeq	NP_872412.3	10	Standard
ENST00000334830.11	Ensembl	ENSP00000334611.7	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis
cell cycle

Molecular Function

serine-type endopeptidase activity

Cellular Component

extracellular region
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000334830
Coding exons: 10
Length: 54756
Individuals with no LoFs: 125616
Homozygous LoFs: 0
Heterozygous LoFs: 131
Defined: 125747
p: 0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.498	206	227	0.907	0.0000113	2745
Missense (PolyPhen)		63	77.951	0.80819		943
Synonymous	0.0835	79	80.0	0.988	0.00000422	780
Loss of Function	0.406	24	26.2	0.914	0.00000158	278

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0025	0.0025	notable
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0013	0.0013	notable
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00026	0.00026	rare
South Asian	0.00069	0.00069	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.196
RVIS EVS: 0.35
RVIS percentile EVS: 74.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.108

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium