TMPRSS7

protein-coding

transmembrane serine protease 7, 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 active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001395507.1

Inheritance

—

ClinVar variants

U:126B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr3:112,034,736-112,081,269

External References & Databases

Ensembl (ENSG00000176040)

Transcript & Mutation Effects

hg38 • Region Span ~46.5 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 TMPRSS7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 125

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395507.1. 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	2 clinvar		3
missense			123 clinvar	4 clinvar		127
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	126	6	0	132

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395507.1	RefSeq	NP_001382436.1	18	MANE Select
ENST00000452346.7	Ensembl	ENSP00000398236.2	18	MANE Select
NM_001042575.2	RefSeq	NP_001036040.2	15	Standard
NM_001366279.2	RefSeq	NP_001353208.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

serine-type endopeptidase activity
serine-type peptidase activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000419127
Coding exons: 15
Length: 46427
Individuals with no LoFs: 122865
Homozygous LoFs: 34
Heterozygous LoFs: 1902
Defined: 124801
p: 0.00779

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.403	370	392	0.943	0.0000209	4683
Missense (PolyPhen)		139	143.27	0.97023		1700
Synonymous	-0.211	146	143	1.02	0.00000784	1365
Loss of Function	1.07	31	38.1	0.813	0.00000205	444

Population LoF Frequency

Population	CAF	p-value	Status
African	0.054	0.054	notable
Latino/Admixed American	0.0027	0.0027	notable
Ashkenazi Jewish	0.0018	0.0018	notable
East Asian	0.046	0.046	notable
Finnish	0.00019	0.00019	rare
European (Non-Finnish)	0.00073	0.00073	rare
South Asian	0.0030	0.0029	notable
Other	0.0045	0.0043	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position. {ECO:0000250}.;

Recessive Scores

pRec: 0.143

Intolerance Scores

LoFtool: 0.539
RVIS EVS: 1.03
RVIS percentile EVS: 91.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0845

Gene Damage Prediction

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