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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PTDSS2
phosphatidylserine synthase 2
Chromosome 11 · 11p15.5
NCBI Gene: 81490Ensembl: ENSG00000174915.13HGNC: HGNC:15463UniProt: Q9BVG9
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylserine biosynthetic processL-serine-phosphatidylethanolamine phosphatidyltransferase activityendoplasmic reticulum membranemembraneazoospermiaprimary ovarian insufficiency46,XX gonadal dysgenesisTesticular regression syndrome
✦AI Summary

PTDSS2 (phosphatidylserine synthase 2) catalyzes a base-exchange reaction converting phosphatidylethanolamine (PE) into phosphatidylserine (PS), but does not act on phosphatidylcholine 1. The enzyme preferentially utilizes diacyl PE over PE plasmalogen and shows selectivity for docosahexaenoic acid at the sn-2 position [UniProt annotation]. PTDSS2 functions as part of a critical phospholipid interconversion system regulating cellular PS levels 2. Dysregulation of PTDSS2 has significant disease implications. In breast cancer, elevated PTDSS2 expression combined with low ATP11B promotes externalization of nonapoptotic PS on the cell membrane, creating an immunosuppressive microenvironment that enhances metastasis through myeloid-derived suppressor cell accumulation and reduced cytotoxic T cell activity 3. PTDSS2 is implicated in hepatocellular carcinoma progression as a component of a metabolism-related prognostic signature predicting patient outcomes 4. Additionally, PTDSS2 expression is altered in major depressive disorder patients and participates in glycerophospholipid metabolism pathways 5. Epigenetic silencing of PTDSS2 via DNA hypermethylation occurs in response to 27-hydroxycholesterol in breast cancer cells 6. PTDSS2 genetic variants may influence HIV-1 reservoir size in suppressed individuals 7. These findings suggest PTDSS2 as a potential therapeutic target, particularly through combination strategies targeting the ATP11B-PTDSS2 axis in metastatic breast cancer.

Sources cited
1
PTDSS2 catalyzes conversion of PE into PS but not PC, and is inhibited by PS product feedback
PMID: 19014349
2
PTDSS2 is a key enzyme in phospholipid interconversion with roles in multiple diseases including NAFLD, Alzheimer's disease, obesity, and cancer
PMID: 39409074
3
High PTDSS2 with low ATP11B promotes nonapoptotic PS externalization, creating immunosuppression and enhancing breast cancer metastasis
PMID: 35025764
4
PTDSS2 is part of a metabolism-related risk score model predicting hepatocellular carcinoma prognosis
PMID: 38025761
5
PTDSS2 is differentially expressed in major depressive disorder and enriched in glycerophospholipid metabolism pathways
PMID: 33622334
6
PTDSS2 undergoes DNA hypermethylation in response to 27-hydroxycholesterol in breast cancer cells
PMID: 35360070
7
PTDSS2 genetic variants are associated with HIV-1 reservoir size in virally suppressed individuals
PMID: 34781942
Disease Associationsⓘ20
azoospermiaOpen Targets
0.08Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.06Suggestive
hypergonadotropic hypogonadism-cataract syndromeOpen Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.06Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
spermatogenic failure 28Open Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
isochromosomy YpOpen Targets
0.05Suggestive
46,XY sex reversal 11Open Targets
0.05Suggestive
spermatogenic failure 77Open Targets
0.05Suggestive
spermatogenic failure 63Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SELENOIProtein interaction96%PLD1Protein interaction96%PLD2Protein interaction96%PTDSS1Protein interaction96%LPCAT3Protein interaction96%CEPT1Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Heart
62%
Liver
57%
Lung
57%
Bone Marrow
32%
Brain
32%
Gene Interaction Network
Click a node to explore
PTDSS2SELENOIPLD1PLD2PTDSS1LPCAT3CEPT1
PROTEIN STRUCTURE
Preparing viewer…
PDB9N0X · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.47–0.80]
RankingsWhere PTDSS2 stands among ~20K protein-coding genes
  • #11,048of 20,598
    Most Researched35
  • #6,684of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedPTDSS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biochemistry and Diseases Related to the Interconversion of Phosphatidylcholine, Phosphatidylethanolamine, and Phosphatidylserine.
PMID: 39409074
Int J Mol Sci · 2024
1.00
2
ATP11B inhibits breast cancer metastasis in a mouse model by suppressing externalization of nonapoptotic phosphatidylserine.
PMID: 35025764
J Clin Invest · 2022
0.90
3
Potent and Selective PTDSS1 Inhibitors Induce Collateral Lethality in Cancers with PTDSS2 Deletion.
PMID: 36054550
Cancer Res · 2022
0.80
4
IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis.
PMID: 34781942
BMC Med · 2021
0.70
5
A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
PMID: 38025761
PeerJ · 2023
0.60