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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMPRSS7
transmembrane serine protease 7
Chromosome 3 Β· 3q13.2
NCBI Gene: 344805Ensembl: ENSG00000176040.14HGNC: HGNC:30846UniProt: Q7RTY8
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
serine-type peptidase activityproteolysisprotein processingplasma membraneplacental retentionenthesopathysubarachnoid hemorrhageAbnormality of the integument
✦AI Summary

TMPRSS7 (transmembrane serine protease 7), also known as matriptase-3, is a type II transmembrane serine protease that preferentially cleaves peptides with arginine at the P1 position 1. The protein functions as an inactive zymogen that undergoes proteolytic activation through shedding of its catalytic domain into the extracellular space 1. TMPRSS7 plays a critical role in neurodevelopment. Loss-of-function variants in TMPRSS7 cause neurodevelopmental disorder characterized by impaired zymogen synthesis and defective protease shedding 1. Tmprss7 knockout mice exhibit dysregulated synaptic dendritic spine density and function in the cerebral cortex and hippocampus, with associated neurobehavioral deficits including spatial learning impairment, anxiety-like behavior, and reduced social novelty preference 1. These effects involve disrupted synaptic signaling pathways 1. Beyond neurodevelopment, TMPRSS7 variants associate with disease susceptibility. Specific TMPRSS7 SNPs (rs1844925 and rs2399403) correlate with breast cancer risk and prognosis, with combined variants increasing mortality risk 2. A TMPRSS7 variant (rs147783135) also associates with reduced ischemic stroke risk 3. Additionally, TMPRSS7 is expressed in oral tissues including salivary glands and epithelial cells, suggesting potential roles in oral pathophysiology 4.

Sources cited
1
TMPRSS7 encodes matriptase-3, a type II transmembrane serine protease; loss-of-function variants disrupt neurodevelopment through impaired synaptic function and dendritic spine density
PMID: 40796295
2
TMPRSS7 SNP variants (rs1844925 and rs2399403) associate with breast cancer risk and patient survival outcomes
PMID: 25029565
3
TMPRSS7 variant rs147783135 associates with reduced ischemic stroke risk
PMID: 28487959
4
TMPRSS7 expression detected in salivary glands and epithelial cells of oral tissues
PMID: 34070998
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
placental retentionOpen Targets
0.29Weak
enthesopathyOpen Targets
0.29Weak
subarachnoid hemorrhageOpen Targets
0.28Weak
Abnormality of the integumentOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.04Suggestive
lacrimal apparatus diseaseOpen Targets
0.04Suggestive
external ear diseaseOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
lobe attachmentOpen Targets
0.02Suggestive
Ischemic strokeOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
hemorrhagic strokeOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
hypertensionOpen Targets
0.00Suggestive
Invasive Breast CarcinomaOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MIPEPShared pathway100%TMPRSS15Shared pathway100%PRSS50Shared pathway100%PRSS22Shared pathway100%MMEL1Shared pathway100%TMPRSS5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
86%
Bone Marrow
29%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
TMPRSS7MIPEPTMPRSS15PRSS50PRSS22MMEL1TMPRSS5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7RTY8
View on AlphaFold β†—
RankingsWhere TMPRSS7 stands among ~20K protein-coding genes
  • #16,927of 20,598
    Most Researched11
Genes detectedTMPRSS7
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.
PMID: 40796295
Hum Mol Genet Β· 2025
1.00
2
Type II transmembrane serine protease gene variants associate with breast cancer.
PMID: 25029565
PLoS One Β· 2014
0.75
3
Presence of SARS-CoV-2 and Its Entry Factors in Oral Tissues and Cells: A Systematic Review.
PMID: 34070998
Medicina (Kaunas) Β· 2021
0.50
4
Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.
PMID: 28487959
Int J Mol Med Β· 2017
0.25