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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TPTE2
transmembrane phosphoinositide 3-phosphatase and tensin homolog 2
Chromosome 13 · 13q12.11
NCBI Gene: 93492Ensembl: ENSG00000132958.19HGNC: HGNC:17299UniProt: Q6XPS3
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumcytosolphosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activityGolgi membraneazoospermiamuscular atrophyrenal osteodystrophyspermatogenic failure, X-linked, 5
✦AI Summary

TPTE2 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2) is a PTEN homolog localized to the endoplasmic reticulum, Golgi membrane, and cytosol. Despite structural similarity to PTEN, TPTE2 shows no intrinsic phosphoinositide phosphatase activity [UniProt], though GO annotations suggest involvement in phosphatidylinositol-3,4,5-trisphosphate and phosphatidylinositol-3,4-bisphosphate 3-phosphatase activities. TPTE2 has emerged as a disease-relevant gene in multiple contexts. Variants in TPTE2 have been identified as novel candidate genetic factors in severe sperm motility disorders (immotile or near-immotile sperm), suggesting a role in flagellar function 1. Genetic variants near TPTE2 associate with persistent cervical high-risk HPV infections, with expression enriched in the endocervix 2, and TPTE2 variants show significant association with hepatocellular carcinoma susceptibility through immune response pathways 3. Functionally, TPTE2 can partially compensate for PTEN loss, normalizing cancer-associated phenotypes including accelerated wound healing, increased proliferation, and reduced apoptosis in epithelial cells 4. These findings suggest TPTE2 functions as a PTEN-like regulator in cellular processes beyond canonical phosphatase activity, with potential therapeutic implications for PTEN-deficient cancers.

Sources cited
1
TPTE2 variants identified as novel candidate genes in patients with severe sperm motility disorders
PMID: 34089056
2
Genetic variants near TPTE2 associate with persistent cervical hrHPV infection, with significant expression in human endocervix
PMID: 38200081
3
TPTE2 (PTEN homolog) variants show significant association with hepatocellular carcinoma susceptibility through immune response pathways
PMID: 21105107
4
TPTE2 overexpression can rescue PTEN-/- phenotypes including wound healing, proliferation, and apoptosis resistance
PMID: 29765523
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Suggestive
muscular atrophyOpen Targets
0.09Suggestive
renal osteodystrophyOpen Targets
0.09Suggestive
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
spermatogenic failure 19Open Targets
0.06Suggestive
spermatogenic failure 43Open Targets
0.06Suggestive
spermatogenic failure 45Open Targets
0.06Suggestive
spermatogenic failure 49Open Targets
0.06Suggestive
spermatogenic failure 82Open Targets
0.06Suggestive
spermatogenic failure 56Open Targets
0.06Suggestive
spermatogenic failure 92Open Targets
0.06Suggestive
spermatogenic failure 94Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTMR2Protein interaction86%SPRTNProtein interaction81%TPTEShared pathway60%LASP1Shared pathway50%SFXN4Shared pathway40%SFXN2Shared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
23%
Brain
16%
Lung
9%
Liver
5%
Heart
0%
Gene Interaction Network
Click a node to explore
TPTE2MTMR2SPRTNTPTELASP1SFXN4SFXN2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6XPS3
View on AlphaFold ↗
RankingsWhere TPTE2 stands among ~20K protein-coding genes
  • #13,106of 20,598
    Most Researched25
Genes detectedTPTE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.
PMID: 34089056
Hum Reprod · 2021
1.00
2
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
PMID: 21105107
Hepatology · 2010
0.90
3
Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections.
PMID: 38200081
Eur J Hum Genet · 2024
0.80
4
Downregulation of TPTE2P1 Inhibits Migration and Invasion of Gallbladder Cancer Cells.
PMID: 25676706
Chem Biol Drug Des · 2015
0.70
5
Overexpressing
PMID: 29765523
Oncotarget · 2018
0.60