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CDS2 CDP-diacylglycerol synthase 2 [ Homo sapiens (human) ]

Gene ID: 8760, updated on 7-Apr-2024

Summary

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Official Symbol
CDS2provided by HGNC
Official Full Name
CDP-diacylglycerol synthase 2provided by HGNC
Primary source
HGNC:HGNC:1801
See related
Ensembl:ENSG00000101290 MIM:603549; AllianceGenome:HGNC:1801
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in brain (RPKM 21.0), heart (RPKM 9.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
20p12.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (5127008..5197887)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (5166426..5237294)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5107654..5178533)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:5100059-5100939 Neighboring gene small nucleolar RNA SNORA26 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:5107325-5107826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17514 Neighboring gene PCNA antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:5113215-5113716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:5113717-5114216 Neighboring gene proliferating cell nuclear antigen Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:5150939-5151438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17515 Neighboring gene Sharpr-MPRA regulatory region 2649 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:5156307-5156942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17517 Neighboring gene meiotic recombination hotspot R Neighboring gene OCT4 hESC enhancer GRCh37_chr20:5246300-5246801 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 1 Neighboring gene prokineticin receptor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13. Halford S, et al. Exp Eye Res, 2002 Nov. PMID 12457874
  2. Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes. Halford S, et al. Genomics, 1998 Nov 15. PMID 9806839
  3. CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms. Xu Y, et al. J Biol Chem, 2019 Nov 8. PMID 31548309, Free PMC Article
  4. Distinct properties of the two isoforms of CDP-diacylglycerol synthase. D'Souza K, et al. Biochemistry, 2014 Dec 2. PMID 25375833, Free PMC Article
  5. CDP-diacylglycerol synthases regulate the growth of lipid droplets and adipocyte development. Qi Y, et al. J Lipid Res, 2016 May. PMID 26946540, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms
    Title: CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms.
  2. CDS1 and CDS2 are important novel regulators of lipid storage.
    Title: CDP-diacylglycerol synthases regulate the growth of lipid droplets and adipocyte development.
  3. distinct properties of the two isoforms of CDP-diacylglycerol synthase
    Title: Distinct properties of the two isoforms of CDP-diacylglycerol synthase.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12936, FLJ38111, FLJ41837

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidate cytidylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidate cytidylyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables phosphatidate cytidylyltransferase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in CDP-diacylglycerol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in CDP-diacylglycerol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid droplet formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphatidylglycerol biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
phosphatidate cytidylyltransferase 2
Names
CDP-DAG synthase 2
CDP-DG synthase 2
CDP-DG synthetase 2
CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2
CDP-diglyceride diphosphorylase 2
CDP-diglyceride pyrophosphorylase 2
CDP-diglyceride synthase 2
CDP-diglyceride synthetase 2
CDS 2
CTP:phosphatidate cytidylyltransferase 2
NP_003809.1
XP_006723723.1
XP_054180166.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003818.4 → NP_003809.1  phosphatidate cytidylyltransferase 2

    See identical proteins and their annotated locations for NP_003809.1

    Status: REVIEWED

    Source sequence(s)
    AK315489, AL121755
    Consensus CDS
    CCDS13088.1
    UniProtKB/Swiss-Prot
    B2RDC6, D3DW04, O95674, Q5TDY2, Q5TDY3, Q5TDY4, Q5TDY5, Q9BYK5, Q9NTT2
    UniProtKB/TrEMBL
    B3KNK4
    Related
    ENSP00000419879.1, ENST00000460006.6
    Conserved Domains (1) summary
    cl21502
    Location:106 → 425
    CTP_transf_1; Cytidylyltransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    5127008..5197887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723660.3 → XP_006723723.1  phosphatidate cytidylyltransferase 2 isoform X1

    Conserved Domains (1) summary
    cl21502
    Location:106 → 327
    CTP_transf_1; Cytidylyltransferase family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    5166426..5237294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324191.1 → XP_054180166.1  phosphatidate cytidylyltransferase 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95674.1 GenPept UniProtKB/Swiss-Prot:O95674

Gene LinkOut

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