PTDSS2
Phosphatidylserine Synthase 2
Gene Information Card
| Symbol | PTDSS2 |
|---|---|
| Full Name | Phosphatidylserine Synthase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 81490 ncbi.nlm.nih.gov/gene/81490 |
| Ensembl ID | ENSG00000174915 |
| UniProt ID | Q9BVG9 |
| OMIM ID | 612793 |
| HGNC ID | 26522 |
| Aliases | PSS2, KIAA1387 |
Description
PTDSS2 encodes phosphatidylserine synthase 2, an enzyme that catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine via a base-exchange reaction. This protein is essential for phospholipid homeostasis in cellular membranes. Mutations in PTDSS2 are associated with Lenz-Majewski syndrome, a rare disorder characterized by hyperostosis, intellectual disability, and distinctive facial features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lenz-Majewski syndrome | Gain-of-function mutations increase phosphatidylserine production, disrupting bone and connective tissue development | ClinVar, OMIM |
| Hyperostosis cranialis interna | Altered phospholipid metabolism leads to excessive bone growth | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Liver | 5.1 | Low |
| Kidney | 6.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 7.3 | Medium expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.686G>A (p.Arg229Gln) | Missense | Rare | Gain-of-function; increased phosphatidylserine synthesis |
| c.689G>A (p.Arg230His) | Missense | Rare | Gain-of-function; associated with Lenz-Majewski syndrome |
Mutation functional classification
Loss of Function (LOF)
Not reported in human disease; likely tolerated or compensated by PTDSS1.
Gain of Function (GOF)
p.Arg229Gln and p.Arg230His increase enzymatic activity, leading to elevated phosphatidylserine levels and Lenz-Majewski syndrome.
Dominant Negative (DN)
Not described for PTDSS2.
View complete mutation data：
Gene Ontology (GO)
| • CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882) | • phosphatidylserine biosynthetic process (GO:0006659) |
| • endoplasmic reticulum (GO:0005783) | • membrane (GO:0016020) |
Pathways
• Phospholipid biosynthesis (Reactome: R-HSA-1483206)
• Glycerophospholipid metabolism (KEGG: hsa00564)
Protein Summary
Phosphatidylserine synthase 2 (PSS2) is a 397-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the calcium-dependent base-exchange reaction that replaces the ethanolamine head group of phosphatidylethanolamine with serine to form phosphatidylserine. PSS2 is ubiquitously expressed with highest levels in brain and testis. Gain-of-function mutations cause Lenz-Majewski syndrome by increasing phosphatidylserine production, which alters membrane composition and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTDSS2 Knockout HEK293 Cell Line | EDJ-KQ2460 | Human | 81490 | Details Get a Quote |
| PTDSS2 Knockout A-549 Cell Line | EDJ-KQ23004 | Human | 81490 | Details Get a Quote |
| PTDSS2 Knockout HCT 116 Cell Line | EDJ-KQ23005 | Human | 81490 | Details Get a Quote |
| PTDSS2 Knockout HeLa Cell Line | EDJ-KQ23006 | Human | 81490 | Details Get a Quote |
