TMPRSS11E

protein-coding

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

Gene summary

Predicted to enable serine-type peptidase activity. Involved in cognition. Predicted to be located in extracellular region and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

TMPRSS11E2

MANE transcript

NM_014058.4

Inheritance

—

ClinVar variants

U:54B:3

Top phenotype

TMPRSS11E-related disorder

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr4:68,447,463-68,497,604

External References & Databases

Ensembl (ENSG00000087128)

Transcript & Mutation Effects

hg38 • Region Span ~50.1 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 TMPRSS11E variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 56

TMPRSS11E-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014058.4. 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						0
missense			54 clinvar	3 clinvar		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	3	0	57

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014058.4	RefSeq	NP_054777.2	10	MANE Select
ENST00000305363.9	Ensembl	ENSP00000307519.4	10	MANE Select
ENST00000510647.1	Ensembl	ENSP00000424109.1	5	Standard
ENST00001134572.1	Ensembl	ENSP00000805926.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis
cognition

Molecular Function

serine-type endopeptidase activity
serine-type peptidase activity

Cellular Component

extracellular region
plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000305363
Coding exons: 10
Length: 50156
Individuals with no LoFs: 124424
Homozygous LoFs: 0
Heterozygous LoFs: 105
Defined: 124529
p: 0.000422

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.308	217	230	0.943	0.0000116	2751
Missense (PolyPhen)		72	84.672	0.85034		999
Synonymous	-0.159	80	78.2	1.02	0.00000391	807
Loss of Function	1.89	14	24.0	0.583	0.00000127	278

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00034	0.00032	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00057	0.00057	rare
South Asian	0.00069	0.00069	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position. {ECO:0000250|UniProtKB:Q5S248}.;

Recessive Scores

pRec: 0.140

Intolerance Scores

LoFtool: 0.505
RVIS EVS: 0.15
RVIS percentile EVS: 64.61

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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