| Variant ID | 21357 |
|---|---|
| Entrez Gene ID | 8760 |
| Gene | CDS2 (GeneCards) |
| Location | hg19 20:5266621-5266621
hg38 20:5285975-5285975 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.5266621 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3677 |
| CADD Raw score (version 1.3) | -0.133698 (Deleterious) |
| FATHMM raw prediction score | 0.06363 (Tolerated) |
| Deleterious probability by DeFine | 0.0739 (Neutral) |
| Entrez Gene ID | 8760 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDS2 (GeneCards) |
| Number of variants in CDS2 in this database | 4 (view all the variants) |
| Full name | CDP-diacylglycerol synthase 2 |
| Band | 20p12.3 |
| Other IDs | Vega: OTTHUMG00000031801 OMIM: 603549 HGNC: HGNC:1801 Ensembl: ENSG00000101290 |
| Other names | None |
| Summary | Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |