CDS2

For the aerodrome using the TC LID, CDS2, see Disley Aerodrome.

CDS2
Identifiers
Aliases	CDS2 , CDP-diacylglycerol synthase 2
External IDs	OMIM: 603549 MGI: 1332236 HomoloGene: 37854 GeneCards: CDS2
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p12.3 Start 5,126,879 bp [1] End 5,197,887 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 F2|2 64.15 cM Start 132,105,068 bp [2] End 132,153,970 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus postcentral gyrus spinal ganglia entorhinal cortex superior vestibular nucleus external globus pallidus ventral tegmental area superior frontal gyrus Brodmann area 23 trigeminal ganglion Top expressed in motor neuron substantia nigra facial motor nucleus habenula renal corpuscle ciliary body medial vestibular nucleus medullary collecting duct external carotid artery internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity transferase activity, transferring phosphorus-containing groups nucleotidyltransferase activity phosphatidate cytidylyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane mitochondrion endoplasmic reticulum membrane mitochondrial inner membrane Biological process phosphatidylglycerol biosynthetic process CDP-diacylglycerol biosynthetic process lipid metabolism phospholipid biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8760 110911 Ensembl ENSG00000101290 ENSMUSG00000058793 UniProt O95674 Q99L43 RefSeq (mRNA) NM_003818 NM_001291039 NM_001291040 NM_138651 RefSeq (protein) NP_003809 NP_001277968 NP_001277969 NP_619592 Location (UCSC) Chr 20: 5.13 – 5.2 Mb Chr 2: 132.11 – 132.15 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Phosphatidate cytidylyltransferase 2 is an enzyme that in humans is encoded by the CDS2 gene. ^{[5] [6] [7]}

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. ^{[8] [9]} 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 (CDS1) and a second (this gene) to 20p13. ^[10]

Model organisms

Cds2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal [11]
Citrobacter infection	Normal [12]
All tests and analysis from [13] [14]

Model organisms have been used in the study of CDS2 function. A conditional knockout mouse line, called Cds2^{tm1a(KOMP)Wtsi [15] [16]} was generated as part of the International Knockout Mouse Consortium program, a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. ^{[17] [18] [19]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[13] [20]} Twenty six tests were carried out and two phenotypes were reported. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no significant abnormalities were observed in these animals. ^[13]

References

1. GRCh38: Ensembl release 89: ENSG00000101290 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000058793 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Halford S, Dulai KS, Daw SC, Fitzgibbon J, Hunt DM (Nov 1998). "Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes". Genomics. 54 (1): 140–4. doi:10.1006/geno.1998.5547. PMID   9806839.
6. Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B (Jan 1999). "Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene". Genomics. 55 (1): 68–77. doi:10.1006/geno.1998.5610. PMID   9889000.
7. "Entrez Gene: CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2".
8. Nowicki M, Müller F, Frentzen M (Apr 2005). "Cardiolipin synthase of Arabidopsis thaliana". FEBS Letters. 579 (10): 2161–5. doi: 10.1016/j.febslet.2005.03.007 . PMID   15811335. S2CID   21937549.
9. Nowicki M (2006). "Characterization of the Cardiolipin Synthase from Arabidopsis thaliana". Ph.D. Thesis, RWTH-Aachen University. Archived from the original on 2011-10-05. Retrieved 2011-07-11.
10. "Entrez Gene: CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1".
11. "Salmonella infection data for Cds2". Wellcome Trust Sanger Institute.
12. "Citrobacter infection data for Cds2". Wellcome Trust Sanger Institute.
13. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
14. Mouse Resources Portal, Wellcome Trust Sanger Institute.
15. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-01-05.
16. "Mouse Genome Informatics".
17. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
18. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
19. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
20. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

External links

• Human CDS2 genome location and CDS2 gene details page in the UCSC Genome Browser .

Further reading

• Lykidis A, Jackson PD, Rock CO, Jackowski S (Dec 1997). "The role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content". The Journal of Biological Chemistry. 272 (52): 33402–9. doi: 10.1074/jbc.272.52.33402 . PMID   9407135.
• Halford S, Inglis S, Gwilliam R, Spencer P, Mohamed M, Ebenezer ND, Hunt DM (Nov 2002). "Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13". Experimental Eye Research. 75 (5): 619–23. doi:10.1006/exer.2002.2052. PMID   12457874.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.