TMPRSS11F

protein-coding

transmembrane serine protease 11F, 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 act upstream of or within establishment of skin barrier. Located in cell surface. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_207407.2

Inheritance

—

ClinVar variants

U:55B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr4:68,053,198-68,129,869

External References & Databases

Ensembl (ENSG00000198092)

Transcript & Mutation Effects

hg38 • Region Span ~76.7 kb

Loading mutation effect viewer...

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 TMPRSS11F variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 57

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207407.2. 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						0
missense			54 clinvar	5 clinvar		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	55	5	0	60

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207407.2	RefSeq	NP_997290.2	10	MANE Select
ENST00000356291.3	Ensembl	ENSP00000348639.2	10	MANE Select
XM_011531935.2	RefSeq	XP_011530237.1	8	Standard
XM_047415669.1	RefSeq	XP_047271625.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

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: ENST00000356291
Coding exons: 10
Length: 76683
Individuals with no LoFs: 125703
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 125747
p: 0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.388	212	229	0.928	0.0000110	2845
Missense (PolyPhen)		76	91.12	0.83407		1137
Synonymous	-0.448	78	73.1	1.07	0.00000336	832
Loss of Function	1.56	18	26.7	0.674	0.00000175	283

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.00023	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00012	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable serine protease. {ECO:0000250}.;

Recessive Scores

pRec: 0.0985

Intolerance Scores

LoFtool: 0.333
RVIS EVS: 0.89
RVIS percentile EVS: 89.19

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.129

Gene Damage Prediction

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