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

PEMT Gene

protein-coding   GIFtS: 62
GCID: GC17M017408

Phosphatidylethanolamine N-Methyltransferase

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(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

Aliases
Phosphatidylethanolamine N-Methyltransferase1 2     PNMT2 3
PEAMT2 3     EC 2.1.1.173
PEMPT2 3     EC 2.1.1.713
PEMT22 3     

External Ids:    HGNC: 88301   Entrez Gene: 104002   Ensembl: ENSG000001330277   OMIM: 6023915   UniProtKB: Q9UBM13   

Export aliases for PEMT gene to outside databases

Previous GC identifers: GC17M017723 GC17M018781 GC17M017347 GC17M017609 GC17M017349 GC17M017161


(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 PEMT Gene:
Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts
phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct
synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step
process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and
mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants
encoding different isoforms. (provided by RefSeq, May 2012)

GeneCards Summary for PEMT Gene: 
PEMT (phosphatidylethanolamine N-methyltransferase) is a protein-coding gene. Diseases associated with PEMT include whiplash, and orofacial cleft, and among its related super-pathways are Glycerophospholipid biosynthesis and Metabolic pathways. GO annotations related to this gene include phosphatidyl-N-dimethylethanolamine N-methyltransferase activity and phosphatidyl-N-methylethanolamine N-methyltransferase activity.

UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1
Function: Catalyzes three sequential methylation reactions of phosphatidylethanolamine (PE) by AdoMet, thereby
producing phosphatidylcholine (PC)

Gene Wiki entry for PEMT (Phosphatidyl ethanolamine methyltransferase) Gene


(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_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEMT gene promoter:
         p53   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEMT promoter sequence
   Search SABiosciences Chromatin IP Primers for PEMT

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


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017408:  view genomic region     (about GC identifiers)

Start:
17,408,877 bp from pter      End:
17,495,022 bp from pter
Size:
86,146 bases      Orientation:
minus strand

(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: PEMT_HUMAN, Q9UBM1 (See protein sequence)
Recommended Name: Phosphatidylethanolamine N-methyltransferase  
Size: 199 amino acids; 22134 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Mitochondrion
membrane; Multi-pass membrane protein (Potential). Note=Found in endoplasmic reticulum where most PEMT activity
is generated and in mitochondria (By similarity)
Sequence caution: Sequence=AAF14867.1; Type=Erroneous initiation;
Secondary accessions: A8MZ66 B4DY41 D3DXC3 Q6IAQ5 Q86VL3 Q9BW86 Q9UHY6 Q9Y6V9
Alternative splicing: 3 isoforms:  Q9UBM1-1   Q9UBM1-2   Q9UBM1-3   (No experimental confirmation available. Ref.5 (BAG63603) sequence is in conflict in position: 222:S->N)

Explore the universe of human proteins at neXtProt for PEMT: NX_Q9UBM1

Explore proteomics data for PEMT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBM1

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

    PEMT Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001254480.1  NP_001254481.1  NP_009100.2  NP_680477.1  NP_680478.1  

    ENSEMBL proteins: 
     ENSP00000379128   ENSP00000379129   ENSP00000391288   ENSP00000255389   ENSP00000379127  
     ENSP00000463112   ENSP00000463713  
    Reactome Protein details: Q9UBM1
    Human Recombinant Protein Products for PEMT: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for PEMT 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    PEMT for ontologies           About GeneDecksing



    PEMT 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:
     IPR024960 PEMT/MFAP
     IPR007318 Phopholipid_MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q9UBM1

    ProtoNet protein and cluster: Q9UBM1

    1 Blocks protein domain: IPB007318 Phospholipid methyltransferase

    UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1
    Similarity: Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase
    family


    PEMT 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: PEMT_HUMAN, Q9UBM1
    Function: Catalyzes three sequential methylation reactions of phosphatidylethanolamine (PE) by AdoMet, thereby
    producing phosphatidylcholine (PC)
    Catalytic activity: S-adenosyl-L-methionine + phosphatidyl-N-methylethanolamine = S-adenosyl-L-homocysteine +
    phosphatidyl-N-dimethylethanolamine
    Catalytic activity: S-adenosyl-L-methionine + phosphatidyl-N-dimethylethanolamine = S-adenosyl-L-homocysteine +
    phosphatidylcholine
    Catalytic activity: S-adenosyl-L-methionine + phosphatidylethanolamine = S-adenosyl-L-homocysteine +
    phosphatidyl-N-methylethanolamine
    Enzyme regulation: The first methylation is rate-limiting

         Genatlas biochemistry entry for PEMT:
    phosphatidylethanolamine N-methyltransferase,converting phosphatidylethanolamine to phosphatidylcholine,involved
    in hepatocyte proliferation and liver cancer,with three isoforms differing from each other in the 5' region

         Enzyme Numbers (IUBMB): EC 2.1.1.171 EC 2.1.1.711

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000773phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA--
    GO:0004608phosphatidylethanolamine N-methyltransferase activity IEA--
    GO:0008170N-methyltransferase activity ----
    GO:0080101phosphatidyl-N-dimethylethanolamine N-methyltransferase activity IEA--
         
    PEMT for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pemt):
     behavior/neurological  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     liver/biliary system  mortality/aging  nervous system 

    PEMT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pemttm1J for PEMT

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEMT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEMT 
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    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidPEMT 3' UTR sequence
    Inhib. RNA
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    (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 PEMT 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 PC0.30
    4Acetylcholine Synthesis
    Acetylcholine Synthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PEMT
        Acetylcholine Synthesis

    5        Reactome Pathways for PEMT
        Glycerophospholipid biosynthesis
    Metabolism
    Phospholipid metabolism
    Synthesis of PC
    Metabolism of lipids and lipoproteins


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

    UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1
    Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis


    PEMT for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/197 Interacting proteins for PEMT (Q9UBM13 ENSP000002553894) via UniProtKB, MINT, STRING, and/or I2D (see all 197)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    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:0006629lipid metabolic process TAS9989271
    GO:0006644phospholipid metabolic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0008283cell proliferation TAS9989271
    GO:0044281small molecule metabolic process TAS--

    PEMT 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

    PEMT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PEMT

    10/2036 HMDB Compounds for PEMT (see all 2036)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----
    PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:0)1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)----
    PC(14:0/18:1(11Z))Phosphatidylcholine(14:0/18:1w7) (see all 14)----
    PC(14:0/18:1(9Z))1-myristoyl-2-oleoyl-sn-glycero-3-phosphocholine (see all 14)----

    10/13 Novoseek inferred chemical compound relationships for PEMT gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylethanolamine 88.7 95 10100195 (6), 7943660 (5), 9989271 (2), 12431977 (2) (see all 31)
    phosphatidylcholine 78.1 45 7943660 (5), 16679290 (2), 9854020 (2), 11192332 (1) (see all 19)
    guanidinoacetate 67.8 3 15218538 (1), 11558902 (1)
    s-adenosylmethionine 67 15 12842883 (5), 1329982 (1), 7943660 (1), 12431977 (1) (see all 6)
    homocysteine 60.2 5 17063928 (2), 12842883 (2)
    choline 60.1 32 19167960 (3), 16816108 (2), 17613168 (2), 18789905 (2) (see all 9)
    phosphoethanolamine 56.3 2 16960350 (1), 12215503 (1)
    folate 45.9 11 19167960 (2)
    phospholipid 39.6 3 7943660 (2), 10100195 (1)
    phosphatidylserine 25.2 2 8245031 (1)

    Search CenterWatch for drugs/clinical trials and news about PEMT

    (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,
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    About This Section

    REFSEQ mRNAs for PEMT gene (5 alternative transcripts): 
    NM_001267551.1  NM_001267552.1  NM_007169.2  NM_148172.2  NM_148173.1  

    Unigene Cluster for PEMT:

    Phosphatidylethanolamine N-methyltransferase
    Hs.714193  [show with all ESTs]
    Unigene Representative Sequence: BM810755
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582268 ENST00000484838 ENST00000490392 ENST00000395782(uc002grj.3)
    ENST00000395783(uc002grk.3) ENST00000435340 ENST00000255389(uc002grl.3)
    ENST00000395781(uc010vwx.2) ENST00000477595 ENST00000580147 ENST00000421096
    ENST00000472446 ENST00000461404

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    Additional mRNA sequence: 

    AB029821.1 AF044214.1 AF113126.1 AF176806.1 AF176807.1 AK302251.1 BC000557.2 BC050593.1 
    BC134420.1 CR457099.1 

    7 DOTS entries:

    DT.443298  DT.92432280  DT.100794363  DT.97844564  DT.86776165  DT.100690330  DT.120997996 

    24/201 AceView cDNA sequences (see all 201):

    BI823889 CB161987 NM_007169 BQ010198 CA445430 NM_148172 AA810439 AI869572 
    BM710592 CB163849 NM_148173 CR614541 BQ025599 AV728921 BU754271 BI086606 
    BM810724 BU153519 CD671945 CR611135 CA455048 BM707743 CA455072 BX097964 

    GeneLoc Exon Structure


    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.714193
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    In Situ
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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 animals and fungi.

    Orthologs for PEMT gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pemt1 , 5 phosphatidylethanolamine N-methyltransferase1, 5 81.07(n)1
    80.4(a)1
      11 (37.81 cM)5
    186181  NM_008819.21  NP_032845.21 
     599706145 
    chicken
    (Gallus gallus)
    Aves PEMT1 phosphatidylethanolamine N-methyltransferase 70.11(n)
    65.26(a)
      416508  NM_001006164.1  NP_001006164.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEMT6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL343500.1(244635-263219)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.160162 Xenopus laevis transcribed sequence with weak similarity more 76.61(n)    CA790765.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc554792 similar to phosphatidylethanolamine N-methyltransferase 74.63(n)   393127  BC045355.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OPI3(YJR073C)4
    OPI31
    Phospholipid methyltransferase (methylene-fatty-acyl-phospholipid more4
    Opi3p1
    50.69(n)1
    43.23(a)1
      10(572935-572315)4
    8535361, 4  NP_012607.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/1760 SNPs in PEMT are shown (see all 1760)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs347387481,2
    C--17247350(+) CGGAC-/AACCTCTG 3 -- int11Minor allele frequency- AAC:0.00NA 2
    rs709654321,2
    C,F--17408392(-) TAAGCC/ATCATC 5 -- ds5001 int15Minor allele frequency- A:0.01NS 172
    rs709654311,2
    C,F--17408436(-) ACCCTA/GTGTGT 5 -- ds5001 int16Minor allele frequency- G:0.01NS WA 290
    rs709654301,2
    C,F--17408480(-) AATGAA/GTGGCC 5 -- ds5001 int15Minor allele frequency- G:0.02NS 172
    rs10206961,2
    C,F--17408484(+) ATTCAT/CTTAGG 5 -- ds5001 int113Minor allele frequency- C:0.25NA NS WA CSA EA 540
    rs1450233371,2
    C--17408639(+) GGTGGC/GAGCAG 5 -- ds5001 int10--------
    rs46464101,2
    C,F,A,H--17408699(-) AGGGGC/TTCACC 5 -- ds5001 int126Minor allele frequency- T:0.37NS EA NA CSA WA 2516
    rs1509382621,2
    --17408708(+) CTGACG/TCCTCC 5 -- ds5001 int10--------
    rs1895033051,2
    --17408783(+) AAAGGC/GTGGAG 5 -- ds5001 int10--------
    rs709654291,2
    C,F--17408824(-) GGGCAC/TGAATA 5 -- ds5001 int16Minor allele frequency- T:0.01NS CSA 184

    HapMap Linkage Disequilibrium report for PEMT (17408877 - 17495022 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for PEMT (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv907750CNV Loss21882294
    nsv523094CNV Loss19592680
    nsv907730CNV Loss21882294
    nsv524158CNV Loss19592680
    dgv3067n71CNV Loss21882294
    nsv470579CNV Loss18288195
    nsv907748CNV Loss21882294
    dgv3070n71CNV Loss21882294
    nsv907749CNV Loss21882294
    nsv907737CNV Loss21882294


    Human Gene Mutation Database (HGMD): PEMT
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PEMT
    DNA2.0 Custom Variant and Variant Library Synthesis for PEMT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602391    OMIM disorders: --

    20/22 diseases for PEMT (see all 22):    About MalaCards
    whiplash    orofacial cleft    liver disease    neuronal ceroid lipofuscinosis
    fatty liver disease    gigantism    smith magenis syndrome    spina bifida
    alcoholism    endometriosis    blindness    infertility
    alzheimer's disease    cystic fibrosis    hepatocellular carcinoma    atherosclerosis
    schizophrenia    gastric cancer    breast cancer    neuronitis


    PEMT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for PEMT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choline deficiency 84.4 1 16816108 (1)
    fatty liver 56 9 16051693 (3), 19262398 (2)
    liver diseases alcoholic 40.9 2 11192332 (1), 11762137 (1)
    liver diseases 25.6 5 16051693 (2), 19262398 (1)
    alzheimers disease 15.2 8 10100195 (5), 16996649 (1)
    hepatocellular carcinoma 0.584 4 12931022 (2), 9854020 (1)
    breast cancer 0 1 17117180 (1)
    tumors 0 2 12931022 (2)

    Genetic Association Database (GAD): PEMT
    Human Genome Epidemiology (HuGE) Navigator: PEMT (48 documents)

    Export disorders for PEMT 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 PEMT gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with PEMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2. (PubMed id 9989271)1, 2, 3, 9 Walkey C.J.... Vance D.E. (1999)
    2. Structure, expression profile and alternative processing of the human phosphatidylethanolamine N-methyltransferase (PEMT) gene. (PubMed id 11420179)1, 2, 9 Shields D.J.... Vance D.E. (2001)
    3. Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). (PubMed id 16051693)1, 4, 9 Song J....Zeisel S.H. (2005)
    4. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. (PubMed id 17391797)1, 4, 9 Dong H....Onishi S. (2007)
    5. Phosphatidylethanolamine N-methyltransferase (PEMT) gene expression is induced by estrogen in human and mouse primary hepatocytes. (PubMed id 17456783)1, 2, 9 Resseguie M....Zeisel S.H. (2007)
    6. A study of the PEMT gene in schizophrenia. (PubMed id 17720317)1, 4, 9 Liu Y....Wei J. (2007)
    7. Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted. (PubMed id 19167960)1, 4, 9 Ivanov A....Caudill M.A. (2009)
    8. Polymorphisms of microsomal triglyceride transfer protein gene and phosphatidylethanolamine N-methyltransferase gene in alcoholic and nonalcoholic fatty liver disease in Koreans. (PubMed id 19262398)1, 4, 9 Jun D.W....Chae J.D. (2009)
    9. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PubMed id 19260141)1, 4, 9 Zemunik T....Rudan I. (2009)
    10. Common genetic polymorphisms affect the human requirement for the nutrient choline. (PubMed id 16816108)1, 4, 9 da Costa K.A....Zeisel S.H. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 10400 HGNC: 8830 AceView: PEMT Ensembl:ENSG00000133027 euGenes: HUgn10400
    ECgene: PEMT Kegg: 10400 H-InvDB: PEMT

    (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 PEMT Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pemt/

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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