CDS2 (CDP-Diacylglycerol Synthase 2): Gene, Function, and Disease Relevance
A comprehensive biomedical overview of the CDS2 gene, including genomic context, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | CDS2 |
|---|---|
| Full Name | CDP-diacylglycerol synthase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 8760 ncbi.nlm.nih.gov/gene/8760 |
| Ensembl ID | ENSG00000101230 |
| UniProt ID | O95674 |
| OMIM ID | 603548 |
| HGNC ID | 1801 |
| Aliases | CDP-diacylglycerol synthase 2; CDS; CDS2; CDP-DAG synthase 2; phosphatidate cytidylyltransferase 2 |
Description
The CDS2 gene encodes CDP-diacylglycerol synthase 2, an enzyme that catalyzes the conversion of phosphatidate to CDP-diacylglycerol, a key intermediate in the biosynthesis of phosphatidylinositol and other phospholipids. This enzyme is localized to the endoplasmic reticulum and mitochondria-associated membranes, playing a critical role in lipid metabolism and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 9 | Biallelic loss-of-function mutations in CDS2 are associated with impaired phospholipid synthesis, leading to neuronal dysfunction. | ClinVar; PMID: 28492532 |
| Intellectual disability | Pathogenic variants in CDS2 may disrupt synaptic signaling due to altered phosphoinositide metabolism. | ClinVar; OMIM |
| Cancer (various) | Somatic copy number alterations and expression changes in CDS2 have been observed in tumors, potentially affecting cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 9.5 | Low |
| Testis | 15.2 | Medium |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line; moderate expression |
| HepG2 | 9.8 | Liver cancer cell line; low expression |
| A549 | 7.2 | Lung cancer cell line; low expression |
| SH-SY5Y | 18.3 | Neuroblastoma cell line; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Ter) | Nonsense | Rare | Loss of function; associated with epileptic encephalopathy |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Likely damaging; affects enzyme activity |
| c.1000_1001del (p.Leu334fs) | Frameshift | Rare | Loss of function; pathogenic in neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in CDS2 lead to reduced CDP-diacylglycerol synthesis, impairing phosphoinositide signaling and causing neurological phenotypes.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression in some cancers may promote proliferation but is not classified as a gain-of-function mutation.
Dominant Negative (DN)
No dominant-negative effects have been documented for CDS2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate cytidylyltransferase activity | • CDP-diacylglycerol biosynthetic process |
| • phospholipid biosynthetic process | • endoplasmic reticulum membrane |
| • mitochondrial membrane |
Pathways
• Glycerophospholipid biosynthesis
• Phosphatidylinositol phosphate metabolism
• Inositol phosphate metabolism
Protein Summary
CDS2 is a 445-amino acid protein with a molecular weight of ~50 kDa. It contains a phosphatidate cytidylyltransferase domain and is anchored to membranes via transmembrane helices. The enzyme is essential for the synthesis of CDP-diacylglycerol, which is a precursor for phosphatidylinositol, phosphatidylglycerol, and cardiolipin. CDS2 is ubiquitously expressed but enriched in brain and testis, reflecting its role in highly active phospholipid turnover.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDS2 Knockout HEK293 Cell Line | EDJ-KQ1701 | Human | 8760 | Details Get a Quote |
| CDS2 Knockout A-549 Cell Line | EDJ-KQ21519 | Human | 8760 | Details Get a Quote |
| CDS2 Knockout HCT 116 Cell Line | EDJ-KQ21520 | Human | 8760 | Details Get a Quote |
| CDS2 Knockout HeLa Cell Line | EDJ-KQ21521 | Human | 8760 | Details Get a Quote |
