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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TPTE
transmembrane phosphatase with tensin homology
Chromosome 21 · 21p11.2
NCBI Gene: 7179Ensembl: ENSG00000274391.5HGNC: HGNC:12023UniProt: P56180
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activitycytosolprotein tyrosine phosphatase activitysignal transductionmyocardial infarctionpsoriasisAlzheimer diseaselysosomal storage disease
✦AI Summary

TPTE (transmembrane phosphatase with tensin homology) is a testis-specific tyrosine phosphatase with structural homology to the tumor suppressor PTEN 1. The protein contains at least two transmembrane domains and a tyrosine phosphatase motif, with multiple copies distributed across chr21 13, 15, 21, 22, and Y 12. TPTE is primarily expressed in secondary spermatocytes and prespermatids, suggesting a role in spermatogenesis 2. Mechanistically, TPTE exhibits phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity and protein tyrosine phosphatase activity, likely involved in signal transduction pathways 3. Functional analysis reveals that TPTE mutations affecting the catalytic P-loop result in variable effects on phosphatase activity, distinguishing it from PTEN's more severe loss-of-function patterns in tumors 3. In disease relevance, TPTE has emerged as a tumor-associated antigen in melanoma. Expression analysis demonstrates TPTE protein in 44.0% of pediatric melanomas and 48.3% of adult melanomas, supporting its potential as an immunotherapy target 4. The BNT111 mRNA vaccine, encoding TPTE among other melanoma antigens, is undergoing clinical testing 4. However, the biological function of TPTE remains incompletely understood compared to PTEN 1.

Sources cited
1
TPTE is a testis-specific gene encoding a transmembrane tyrosine phosphatase with multiple genomic copies on chromosomes 13, 15, 21, 22, and Y
PMID: 10598804
2
TPTE and related proteins are expressed in spermatocytes/prespermatids with alternative splicing producing isoforms with variable transmembrane domains
PMID: 14659893
3
TPTE has phosphatase activity on PIP3 and catalytic mutations affect PTEN function analysis; distinguishes tumor vs. autism-associated PTEN mutations
PMID: 21828076
4
TPTE is expressed in 44% of pediatric melanomas and 48.3% of adult melanomas and is a target in the BNT111 cancer vaccine
PMID: 38890171
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
myocardial infarctionOpen Targets
0.34Weak
psoriasisOpen Targets
0.31Weak
Alzheimer diseaseOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.24Weak
Parkinson diseaseOpen Targets
0.24Weak
autism spectrum disorderOpen Targets
0.12Weak
MacrocephalyOpen Targets
0.12Weak
azoospermiaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 83Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPRTNProtein interaction81%NEK3Protein interaction79%CTAG1BProtein interaction76%MAGEA3Protein interaction76%TPTE2Shared pathway60%LASP1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
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TPTESPRTNNEK3CTAG1BMAGEA3TPTE2LASP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P56180
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.12 [0.90–1.39]
RankingsWhere TPTE stands among ~20K protein-coding genes
  • #12,698of 20,598
    Most Researched27
  • #14,414of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedTPTE
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical implications of PTEN loss in prostate cancer.
PMID: 29460925
Nat Rev Urol · 2018
1.00
2
[Not Available].
PMID: 39522343
Ann Cardiol Angeiol (Paris) · 2024
0.90
3
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID: 21828076
Hum Mol Genet · 2011
0.80
4
Expression of the tumor antigens NY-ESO-1, tyrosinase, MAGE-A3, and TPTE in pediatric and adult melanoma: a retrospective case control study.
PMID: 38890171
Virchows Arch · 2024
0.70
5
The TPTE gene family: cellular expression, subcellular localization and alternative splicing.
PMID: 14659893
Gene · 2003
0.60