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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PCYT2 Gene

protein-coding   GIFtS: 61
GCID: GC17M079862

Phosphate Cytidylyltransferase 2, Ethanolamine

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphate Cytidylyltransferase 2, Ethanolamine1 2     ET2
Phosphorylethanolamine Transferase2 3     Ethanolamine-Phosphate Cytidylyltransferase2
CTP:Phosphoethanolamine Cytidylyltransferase2 3     EC 2.7.78
EC 2.7.7.143 8     

External Ids:    HGNC: 87561   Entrez Gene: 58332   Ensembl: ENSG000001858137   OMIM: 6026795   UniProtKB: Q994473   
ORGUL members:         
NONCODE14:n409328 n409327 n409326 n409330      

Export aliases for PCYT2 gene to outside databases

Previous GC identifers: GC17M079354 GC17M9I0165 GC17M080397 GC17M9I0540 GC17M9I7455 GC17M077455 GC17M075262


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PCYT2 Gene:
This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in
the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, May 2010)

GeneCards Summary for PCYT2 Gene: 
PCYT2 (phosphate cytidylyltransferase 2, ethanolamine) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with PCYT2 include gastroduodenitis, and breast cancer, and among its related super-pathways are Glycerophospholipid biosynthesis and Metabolic pathways. GO annotations related to this gene include ethanolamine-phosphate cytidylyltransferase activity.

UniProtKB/Swiss-Prot: PCY2_HUMAN, Q99447
Function: Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the
formation of CDP-ethanolamine




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010663.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCYT2 gene promoter:
         AP-1   ATF-2   MyoD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCYT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCYT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCYT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

PCYT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCYT2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079862:  view genomic region     (about GC identifiers)

Start:
79,858,841 bp from pter      End:
79,869,340 bp from pter
Size:
10,500 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for PCYT2

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PCY2_HUMAN, Q99447 (See protein sequence)
Recommended Name: Ethanolamine-phosphate cytidylyltransferase  
Size: 389 amino acids; 43835 Da
1 PDB 3D structure from and Proteopedia for PCYT2:
3ELB (3D)    
Secondary accessions: B7Z7A5 F5H8B1 Q6IBM3 Q96G08
Alternative splicing: 3 isoforms:  Q99447-1   Q99447-2   Q99447-3   (No experimental confirmation available. Gene prediction based on cDNA data)

Explore the universe of human proteins at neXtProt for PCYT2: NX_Q99447

Explore proteomics data for PCYT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99447

  • 4/7 DME Specific Peptides for PCYT2 (Q99447) (see all 7)
     WVDEVVP  GDYLIVG  PIMNLHER  NCDFCVHG 

    PCYT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCYT2 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001171846.1  NP_001243362.1  NP_001243363.1  NP_001243364.1  NP_001269132.1  NP_001269133.1  NP_002852.1  

    ENSEMBL proteins: 
     ENSP00000439245   ENSP00000331719   ENSP00000442050   ENSP00000459044   ENSP00000461190  
     ENSP00000460767   ENSP00000458330   ENSP00000458931   ENSP00000459836   ENSP00000458472  
     ENSP00000458727   ENSP00000458805   ENSP00000461814  
    Reactome Protein details: Q99447
    Human Recombinant Protein Products for PCYT2: 
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    ProSpec Recombinant Protein for PCYT2
    Cloud-Clone Corp. Proteins for PCYT2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane TAS--

    PCYT2 for ontologies           About GeneDecksing



    PCYT2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR004821 Cyt_trans-like
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry Q99447

    ProtoNet protein and cluster: Q99447

    1 Blocks protein domain: IPB004820 Cytidylyltransferase

    UniProtKB/Swiss-Prot: PCY2_HUMAN, Q99447
    Similarity: Belongs to the cytidylyltransferase family


    PCYT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCY2_HUMAN, Q99447
    Function: Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the
    formation of CDP-ethanolamine
    Catalytic activity: CTP + ethanolamine phosphate = diphosphate + CDP-ethanolamine

         Enzyme Numbers (IUBMB): EC 2.7.7.141 2 EC 2.7.72

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004306ethanolamine-phosphate cytidylyltransferase activity TAS9083101
    GO:0016779nucleotidyltransferase activity ----
         
    PCYT2 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pcyt2):
     homeostasis/metabolism  liver/biliary system  mortality/aging  reproductive system 

    PCYT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pcyt2tm1Mbak for PCYT2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCYT2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCYT2 
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    miRNA
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    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCYT2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCYT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Synthesis of PE
    Synthesis of PE0.38
    phosphatidylethanolamine biosynthesis II0.38
    4Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics
    Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PCYT2
        phosphatidylethanolamine biosynthesis II

    5        Reactome Pathways for PCYT2
        Glycerophospholipid biosynthesis
    Metabolism
    Phospholipid metabolism
    Synthesis of PE
    Metabolism of lipids and lipoproteins

    1 PharmGKB Pathway for PCYT2
        Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    2         Kegg Pathways  (Kegg details for PCYT2):
        Glycerophospholipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PCY2_HUMAN, Q99447
    Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from
    ethanolamine: step 2/3


    PCYT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PCYT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/27 Interacting proteins for PCYT2 (Q994472, 3 ENSP000003317194) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAMTS10Q9H3242, 3, ENSP000002703284MINT-8265384 I2D: score=2 STRING: ENSP00000270328
    GDF9O603832, 3, ENSP000002968754MINT-8265417 I2D: score=2 STRING: ENSP00000296875
    CRIP2P529432, 3MINT-8265395 I2D: score=2 
    DNMT3BQ9UBC32, 3MINT-8265406 I2D: score=2 
    SETDB1Q150472, 3MINT-8265428 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006646phosphatidylethanolamine biosynthetic process TAS--
    GO:0008654phospholipid biosynthetic process TAS9083101
    GO:0009058biosynthetic process ----
    GO:0044281small molecule metabolic process TAS--

    PCYT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PCYT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCYT2 (PCY2)

    1 HMDB Compound for PCYT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CDP-EthanolamineCDP-ethanolamine (see all 4)3036-18-8--

    4 Novoseek inferred chemical compound relationships for PCYT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cdp ethanolamine 94.2 4 9370320 (2), 9083101 (1), 10493918 (1)
    phosphoethanolamine 84.2 2 9370320 (1), 1323040 (1)
    phosphatidylethanolamine 72.4 5 9083101 (1), 18583706 (1), 14697519 (1), 10493918 (1)
    ethanolamine 66.3 2 9083101 (2)

    Search CenterWatch for drugs/clinical trials and news about PCYT2 / PCY2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PCYT2 gene (7 alternative transcripts): 
    NM_001184917.2  NM_001256433.2  NM_001256434.2  NM_001256435.2  NM_001282203.1  NM_001282204.1  NM_002861.4  

    Unigene Cluster for PCYT2:

    Phosphate cytidylyltransferase 2, ethanolamine
    Hs.569843  [show with all ESTs]
    Unigene Representative Sequence: NR_033683
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538936(uc010wvb.2 uc002kce.2 uc002kch.2 uc002kci.2 uc002kcf.2 uc010wvc.2)
    ENST00000331285 ENST00000538721 ENST00000571105 ENST00000570391 ENST00000574343
    ENST00000572995 ENST00000570388 ENST00000572924 ENST00000576343 ENST00000571944
    ENST00000573636 ENST00000574155 ENST00000573401 ENST00000571581 ENST00000573927
    ENST00000572473 ENST00000572157
    miRNA
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    Additional mRNA sequence: 

    AF525738.1 AK093328.1 AK297996.1 AK301723.1 AK315777.1 AK316385.1 AY251539.1 BC000351.2 
    BC010075.2 BC073815.1 CR456779.1 D84307.1 NR_033683.1 NR_033685.1 

    20 DOTS entries:

    DT.114024  DT.100800423  DT.100800435  DT.91755618  DT.100658069  DT.95361239  DT.91755607  DT.120912271 
    DT.120912312  DT.120912310  DT.95310500  DT.100800430  DT.100800436  DT.100804620  DT.120912317  DT.40111323 
    DT.91717901  DT.95361256  DT.97847600  DT.95361258 

    24/669 AceView cDNA sequences (see all 669):

    AI467902 BX427058 BF057435 AI833017 BM550287 AI003999 AI024931 AA910823 
    BE645897 BM922245 CR624315 CR617224 AI339910 BM699843 CA307028 CR592207 
    BF001964 BF725990 BQ017626 D31390 BM478773 BU153852 BX444185 AW274016 

    GeneLoc Exon Structure

    5/19 Alternative Splicing Database (ASD) splice patterns (SP) for PCYT2 (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^
    SP1:                                -     -     -     -     -           -     -                                               -                                 
    SP2:                                -     -     -     -     -           -     -                                               -           -                     
    SP3:                                                                                                                          -           -                     
    SP4:                                -     -     -     -     -           -     -                                               -                                 
    SP5:                                -     -     -     -     -           -     -     -     -     -                             -           -                     

    ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d · 18e
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for PCYT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PCYT2 expression in normal human tissues (normalized intensities)      PCYT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PCYT2 Expression
    About this image


    PCYT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Testis (Reproductive System)
             sperm   

    See PCYT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCYT2

    SOURCE GeneReport for Unigene cluster: Hs.569843

    UniProtKB/Swiss-Prot: PCY2_HUMAN, Q99447
    Tissue specificity: Strongest expression in liver, heart, and skeletal muscle

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PCYT2 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcyt21 , 5 phosphate cytidylyltransferase 2, ethanolamine1, 5 87.38(n)1
    91.58(a)1
      11 (84.33 cM)5
    686711  NM_024229.21  NP_077191.21 
     1206100875 
    chicken
    (Gallus gallus)
    Aves PCYT26
    Uncharacterized protein
    80(a)
    1 ↔ 1
    18(10223921-10233484)
    lizard
    (Anolis carolinensis)
    Reptilia PCYT26
    Uncharacterized protein
    79(a)
    1 ↔ 1
    2(118494947-118520398)
    zebrafish
    (Danio rerio)
    Actinopterygii pcyt21 phosphate cytidylyltransferase 2, ethanolamine 72.96(n)
    78.46(a)
      450016  NM_001006037.1  NP_001006037.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pect1 , 3 ethanolamine-phosphate
    cytidylyltransferase3
    Phosphoethanolamine cytidylyltransferase1
    63(a)3
    62.65(n)1
    65.21(a)1
      34A93
    347161  NM_165028.11  NP_723789.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37E3.111 , 3 Protein Y37E3.111 59(a)3
    58.74(n)1
    59.89(a)1
      I(2078970-2085492)3
    1717701  NM_001129065.11  NP_001122537.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ECT1(YGR007W)4 Ethanolamine-phosphate cytidylyltransferase, catalyzes more   --   7(506969-507940) 852890  NP_011521.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g03870001 hypothetical protein 53.29(n)
    48.67(a)
      4348512  NM_001071028.1  NP_001064493.1 


    ENSEMBL Gene Tree for PCYT2 (if available)
    TreeFam Gene Tree for PCYT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCYT2 gene
    1 SIMAP similar gene for PCYT2 using alignment to 10 protein entries:     PCY2_HUMAN (see all proteins):
    PCYT1A

    PCYT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/688 SNPs in PCYT2 are shown (see all 688)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1152089761,2
    F--75271214(+) GCGCTC/GGGCTG 1 -- int11Minor allele frequency- G:0.30WA 118
    rs1386659101,2
    --75271309(+) TTTTCC/TTATTT 1 -- int10--------
    rs169406631,2
    C,F--75271311(-) AAAAA-/ATAAGA 1 -- int12Minor allele frequency- A:0.04MN EA 356
    rs1882983221,2
    C--75271409(+) GAGCCC/TGCGCC 1 -- int10--------
    rs1807707721,2
    C--75271414(+) CGCGCC/TGACCA 1 -- int10--------
    rs1488978391,2
    --75271557(+) TTAAGC/TAGTAG 1 -- int10--------
    rs1434584491,2
    C--75271611(+) AAGGCC/TGCTGG 1 -- int10--------
    rs1138762281,2
    C--75271857(+) CAGCCC/TTCACC 1 -- int11Minor allele frequency- T:0.33CSA 3
    rs2006486741,2
    C--75271863(+) TCACCA/GTGACA 1 -- int10--------
    rs740061341,2
    C--75271893(+) CAACTG/ATTCTT 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for PCYT2 (79858841 - 79869340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for PCYT2 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716461CNV Deletion23290073
    nsv909134CNV Loss21882294
    dgv3341n71CNV Loss21882294
    dgv3333n71CNV Loss21882294
    nsv833569CNV Loss17160897
    nsv909161CNV Loss21882294
    esv29964CNV Loss17803354
    dgv3340n71CNV Loss21882294
    dgv3332n71CNV Loss21882294
    dgv3342n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602679    OMIM disorders: --

    2 diseases for PCYT2:    About MalaCards
    gastroduodenitis    breast cancer


    PCYT2 for disorders           About GeneDecksing


    Export disorders for PCYT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCYT2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with PCYT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human cDNA for CTP-phosphoethanolamine cytidylyltransferase by complementation in vivo of a yeast mutant. (PubMed id 9083101)1, 2, 3, 9 Nakashima A.... Nikawa J. (1997)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. CTP:phosphoethanolamine cytidylyltransferase. (PubMed id 9370320)1, 9 Bladergroen B.A. and van Golde L.M. (1997)
    5. Genomic organization and differential splicing of the mouse and human Pcyt2 genes. (PubMed id 14697519)1, 9 Poloumienko A....Bakovic M. (2004)
    6. Metabolic and molecular aspects of ethanolamine phospholipid biosynthesis: the role of CTP:phosphoethanolamine cytidylyltransferase (Pcyt2). (PubMed id 17612623)1, 9 Bakovic M....Michel V. (2007)
    7. Characterization of transcription factors and cis-acting elements that regulate human CTP: phosphoethanolamine cytidylyltransferase (Pcyt2). (PubMed id 16023412)1, 9 Johnson C.M....Bakovic M. (2005)
    8. Stimulation of the human CTP:phosphoethanolamine cytidylyltransferase gene by early growth response protein 1. (PubMed id 18583706)1, 9 Zhu L....Bakovic M. (2008)
    9. Breast cancer cells adapt to metabolic stress by incre asing ethanolamine phospholipid synthesis and CTP:ethanolaminephosphate cytidyly ltransferase-Pcyt2 activity. (PubMed id 22339418)1 Zhu L. and Bakovic M. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5833 HGNC: 8756 AceView: MAFGandPCYT2andSIRT7 Ensembl:ENSG00000185813 euGenes: HUgn5833
    ECgene: PCYT2 Kegg: 5833 H-InvDB: PCYT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCYT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCYT2 gene:
    Search GeneIP for patents involving PCYT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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