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GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMPRSS15
transmembrane serine protease 15
Chromosome 21 Β· 21q21.1
NCBI Gene: 5651Ensembl: ENSG00000154646.9HGNC: HGNC:9490UniProt: P98073
25PubMed Papers
21Diseases
0Drugs
78Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmembraneserine-type peptidase activityprotein processingcongenital enteropathy due to enteropeptidase deficiencyovarian neoplasmplacenta praeviamixed connective tissue disease
✦AI Summary

TMPRSS15 (transmembrane serine protease 15), also known as enterokinase, is a brush border serine protease primarily responsible for initiating activation of pancreatic proteolytic proenzymes. It catalyzes conversion of trypsinogen to trypsin, which subsequently activates other digestive proenzymes including chymotrypsinogen and procarboxypeptidases 1. Beyond its canonical digestive role, TMPRSS15 regulates intestinal nutrient absorption, including ions such as sodium, potassium, and potentially lithium 1. Recent evidence suggests TMPRSS15 variants modulate lithium response in bipolar disorder through altered intestinal lithium absorption 1. The enzyme also enhances influenza A virus infection by activating trypsinogen, which processes viral hemagglutinin 2. Loss-of-function mutations cause enterokinase deficiency (EKD), a rare autosomal recessive disorder presenting with acrodermatitis enteropathica-like skin lesions and digestive dysfunction 3. TMPRSS15 dysregulation has been identified in multiple malignancies, including ovarian carcinoma and esophageal squamous cell carcinoma, where altered expression correlates with chemoresistance and tumor progression [PMID:26318424; 48]. Additionally, TMPRSS15 variants have been detected in severe COVID-19 cases with hemophagocytic lymphohistiocytosis, suggesting roles in immune regulation 5. Genetic studies link TMPRSS15 variants to subcortical brain volume variation in PTSD 6.

Sources cited
1
TMPRSS15 encodes enterokinase; regulates intestinal nutrient absorption including ions; impacts lithium response in bipolar disorder through modulation of intestinal lithium absorption
PMID: 38735581
2
TMPRSS15 enterokinase enhances influenza A virus infection by activating trypsinogen to process viral hemagglutinin
PMID: 29629340
3
Loss-of-function TMPRSS15 mutations cause enterokinase deficiency, an autosomal recessive disorder presenting with acrodermatitis enteropathica-like lesions
PMID: 36410965
4
TMPRSS15 is a target gene of androgen receptor in taxol-resistant ovarian carcinoma cells and is involved in chemoresistance
PMID: 26318424
5
TMPRSS15 expression is dysregulated in esophageal squamous cell carcinoma and correlates with tumor progression
PMID: 38769028
6
TMPRSS15 pathogenic variants detected in deceased COVID-19 patients with secondary hemophagocytic lymphohistiocytosis
PMID: 39888602
7
TMPRSS15 variants associated with subcortical brain volumes, specifically nucleus accumbens volume, in PTSD genetic studies
PMID: 29187748
8
TMPRSS15 is dysregulated as an inborn error of immunity-related gene in cancer transcriptomes
PMID: 41616493
Disease Associationsβ“˜21
congenital enteropathy due to enteropeptidase deficiencyOpen Targets
0.71Strong
ovarian neoplasmOpen Targets
0.35Weak
placenta praeviaOpen Targets
0.30Weak
mixed connective tissue diseaseOpen Targets
0.25Weak
poisoningOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.24Weak
smoking initiationOpen Targets
0.24Weak
esophageal ulcerOpen Targets
0.23Weak
response to antibioticOpen Targets
0.23Weak
response to xenobiotic stimulusOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.22Weak
brain compressionOpen Targets
0.22Weak
edemaOpen Targets
0.22Weak
malignant renal pelvis neoplasmOpen Targets
0.22Weak
aphthous ulcerOpen Targets
0.20Weak
obesityOpen Targets
0.19Weak
Abnormality of the gastrointestinal tractOpen Targets
0.19Weak
bone fractureOpen Targets
0.17Weak
respiratory tract infectious disorderOpen Targets
0.17Weak
HypercholesterolemiaOpen Targets
0.17Weak
Enterokinase deficiencyUniProt
Pathogenic Variants78
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter)Pathogenic
Enterokinase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 712
NM_002772.3(TMPRSS15):c.1437dup (p.Asn480Ter)Pathogenic
Enterokinase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 480
NM_002772.3(TMPRSS15):c.2486+1G>ALikely pathogenic
TMPRSS15-related disorder|Enterokinase deficiency|not provided
β˜…β˜…β˜†β˜†2025
NM_002772.3(TMPRSS15):c.1922-1G>ALikely pathogenic
Enterokinase deficiency|not provided
β˜…β˜…β˜†β˜†2024
NM_002772.3(TMPRSS15):c.2611C>T (p.Arg871Ter)Pathogenic
not provided|Enterokinase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 871
NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs)Pathogenic
Enterokinase deficiency
β˜…β˜…β˜†β˜†2019β†’ Residue 451
NM_002772.3(TMPRSS15):c.2325del (p.Lys775fs)Pathogenic
Enterokinase deficiency|not provided
β˜…β˜…β˜†β˜†2018β†’ Residue 775
NM_002772.3(TMPRSS15):c.2294del (p.Leu765fs)Pathogenic
Enterokinase deficiency|not provided
β˜…β˜…β˜†β˜†2018β†’ Residue 765
NM_002772.3(TMPRSS15):c.390G>A (p.Trp130Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 130
NM_002772.3(TMPRSS15):c.1428+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_002772.3(TMPRSS15):c.2540C>G (p.Ser847Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 847
NM_002772.3(TMPRSS15):c.2827C>T (p.Gln943Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 943
NM_002772.3(TMPRSS15):c.142C>T (p.Arg48Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 48
NM_002772.3(TMPRSS15):c.1320dup (p.Ile441fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 441
NM_002772.3(TMPRSS15):c.1093G>T (p.Glu365Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 365
NM_002772.3(TMPRSS15):c.2599_2600insGATTAATAGATGAAATTGTC (p.His867fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 867
NM_002772.3(TMPRSS15):c.1780+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002772.3(TMPRSS15):c.1216C>T (p.Arg406Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 406
NM_002772.3(TMPRSS15):c.1496_1497del (p.Tyr499fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 499
NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs)Pathogenic
Enterokinase deficiency|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 903
View on ClinVar β†—
Related Genes
TMPRSS11FShared pathway100%PRSS41Shared pathway100%PRSS51Shared pathway100%TMPRSS7Shared pathway100%TMPRSS11AShared pathway100%IMMP1LShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Brain
0%
Heart
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
TMPRSS15TMPRSS11FPRSS41PRSS51TMPRSS7TMPRSS11AIMMP1L
PROTEIN STRUCTURE
Preparing viewer…
PDB4DGJ Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.95 [0.81–1.12]
RankingsWhere TMPRSS15 stands among ~20K protein-coding genes
  • #13,104of 20,598
    Most Researched25
  • #956of 5,498
    Most Pathogenic Variants78 Β· top quartile
  • #11,545of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedTMPRSS15
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
In-silico functional analyses identify TMPRSS15-mediated intestinal absorption of lithium as a modulator of lithium response in bipolar disorder.
PMID: 38735581
J Affect Disord Β· 2024
1.00
2
Integrative transcriptomics-based identification of cryptic drivers of taxol-resistance genes in ovarian carcinoma cells: Analysis of the androgen receptor.
PMID: 26318424
Oncotarget Β· 2015
0.88
3
Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica.
PMID: 36410965
Pediatr Dermatol Β· 2023
0.75
4
Proteomic Analyses in COVID-19-Associated Secondary Hemophagocytic Lymphohistiocytosis.
PMID: 39888602
Crit Care Explor Β· 2025
0.63
5
Involvement of circRNA Regulators MBNL1 and QKI in the Progression of Esophageal Squamous Cell Carcinoma.
PMID: 38769028
Cancer Control Β· 2024
0.50