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

    Gene ID: 8760, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See CDS2 in Genome Data Viewer
    Location:
    20p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (5127008..5197887)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (5166426..5237294)
    RS_2024_09 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 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 (54) 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_2024_08

    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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