PEMT Gene (Protein Coding)

Phosphatidylethanolamine N-Methyltransferase

GC17M017506
GIFtS:
42
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 loca... See more...

Aliases for PEMT Gene

Aliases for PEMT Gene

  • Phosphatidylethanolamine N-Methyltransferase 2 3 4 5
  • PEMPT 2 3 4
  • PEMT2 2 3 4
  • Phospholipid Methyltransferase 3 4
  • PEAMT 3 4
  • PLMT 3 4
  • PNMT 3 4
  • EC 2.1.1.17 4
  • EC 2.1.1.71 4
  • PEMT 5

External Ids for PEMT Gene

Previous GeneCards Identifiers for PEMT Gene

  • GC17M017723
  • GC17M018781
  • GC17M017347
  • GC17M017609
  • GC17M017349
  • GC17M017408
  • GC17M017161

Summaries for PEMT Gene

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 Choline Deficiency Disease and Fatty Liver Disease. Among its related pathways are Acetylcholine Synthesis and Synthesis of PC. Gene Ontology (GO) annotations related to this gene include N-methyltransferase activity and phosphatidylethanolamine N-methyltransferase activity.

UniProtKB/Swiss-Prot Summary for PEMT Gene

  • Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC).

Gene Wiki entry for PEMT Gene

Additional gene information for PEMT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEMT Gene

Genomics for PEMT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PEMT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEMT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEMT

Top Transcription factor binding sites by QIAGEN in the PEMT gene promoter:
  • Cart-1
  • p53

Genomic Locations for PEMT Gene

Latest Assembly
chr17:17,505,561-17,591,987
(GRCh38/hg38)
Size:
86,427 bases
Orientation:
Minus strand

Previous Assembly
chr17:17,408,877-17,495,022
(GRCh37/hg19 by Entrez Gene)
Size:
86,146 bases
Orientation:
Minus strand

chr17:17,408,877-17,495,022
(GRCh37/hg19 by Ensembl)
Size:
86,146 bases
Orientation:
Minus strand

Genomic View for PEMT Gene

Genes around PEMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEMT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PEMT Gene

Proteins for PEMT Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for PEMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBM1-PEMT_HUMAN
    Recommended name:
    Phosphatidylethanolamine N-methyltransferase
    Protein Accession:
    Q9UBM1
    Secondary Accessions:
    • A8MZ66
    • B4DY41
    • D3DXC3
    • Q6IAQ5
    • Q86VL3
    • Q9BW86
    • Q9UHY6
    • Q9Y6V9

    Protein attributes for PEMT Gene

    Size:
    199 amino acids
    Molecular mass:
    22134 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: Much lower enzymatic activity than isoform 1.

    Alternative splice isoforms for PEMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEMT Gene

Protein Expression for PEMT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PEMT Gene

Other Protein References for PEMT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PEMT Gene

Domains & Families for PEMT Gene

Gene Families for PEMT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for PEMT Gene

InterPro:
Blocks:
  • Phospholipid methyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for PEMT Gene

GenScript: Design optimal peptide antigens:
  • PEMT2 (PEMT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBM1

UniProtKB/Swiss-Prot:

PEMT_HUMAN :
  • Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.
Family:
  • Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.
genes like me logo Genes that share domains with PEMT: view

Function for PEMT Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for PEMT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine + S-adenosyl-L-methionine = 1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:32735, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64572, ChEBI:CHEBI:64573; EC=2.1.1.71; Evidence={ECO:0000255|HAMAP-Rule:MF_03216};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine + S-adenosyl-L-methionine = a 1,2-diacyl-sn-glycero-3-phosphocholine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:32739, ChEBI:CHEBI:15378, ChEBI:CHEBI:57643, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64572; EC=2.1.1.71; Evidence={ECO:0000255|HAMAP-Rule:MF_03216};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + S-adenosyl-L-methionine = 1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:11164, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64573, ChEBI:CHEBI:64612; EC=2.1.1.17; Evidence={ECO:0000255|HAMAP-Rule:MF_03216};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-N-methylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-N,N-dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:46112, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:85679, ChEBI:CHEBI:85680; Evidence={ECO:0000269|PubMed:12431977};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The first methylation is rate-limiting.
GENATLAS Biochemistry:
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) for PEMT Gene

Phenotypes From GWAS Catalog for PEMT Gene

Gene Ontology (GO) - Molecular Function for PEMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000773 phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA --
GO:0004608 phosphatidylethanolamine N-methyltransferase activity TAS --
GO:0005515 protein binding IPI --
GO:0008168 methyltransferase activity IEA --
GO:0008429 phosphatidylethanolamine binding IEA --
genes like me logo Genes that share ontologies with PEMT: view
genes like me logo Genes that share phenotypes with PEMT: view

Animal Models for PEMT Gene

MGI Knock Outs for PEMT:

Animal Models for research

  • Taconic Biosciences Mouse Models for PEMT

miRNA for PEMT Gene

miRTarBase miRNAs that target PEMT

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEMT

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEMT Gene

Localization for PEMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEMT Gene

[Isoform 1]: Endoplasmic reticulum membrane. Multi-pass membrane protein. Mitochondrion membrane. Multi-pass membrane protein. Note=Found in endoplasmic reticulum where most PEMT activity is generated and in mitochondria. {ECO:0000250}.
[Isoform 2]: Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEMT gene
Compartment Confidence
plasma membrane 4
mitochondrion 4
cytosol 3
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Mitochondria (2)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PEMT: view

Pathways & Interactions for PEMT Gene

genes like me logo Genes that share pathways with PEMT: view

UniProtKB/Swiss-Prot Q9UBM1-PEMT_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis.

Gene Ontology (GO) - Biological Process for PEMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001835 blastocyst hatching IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006650 glycerophospholipid metabolic process IEA --
GO:0006656 phosphatidylcholine biosynthetic process IBA,TAS --
GO:0006686 sphingomyelin biosynthetic process IEA --
genes like me logo Genes that share ontologies with PEMT: view

No data available for SIGNOR curated interactions for PEMT Gene

Drugs & Compounds for PEMT Gene

Products:

  1. Drug products for research

(11) Drugs for PEMT Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphatidylethanolamine Experimental Pharma 0
L-Dilinoleoyllecithin Experimental Pharma 0
PE(16:0/16:0) Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0

(14) Additional Compounds for PEMT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
 61510-09-6
Hydroxyclomipramine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-icosatetraenoyl)-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-(1-Enyl-stearoyl)-2-arachidonoyl-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-Alkenyl-2-acyl-glycerophosphoethanolamine
 97859-69-3
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
PC(20:2(11Z,14Z)/18:1(11Z))
  • Phosphatidylcholine(20:2/18:1)
  • GPCho(20:2/18:1)
  • Phosphatidylcholine(38:3)
  • PC(38:3)
  • Lecithin
genes like me logo Genes that share compounds with PEMT: view

Transcripts for PEMT Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for PEMT Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEMT

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PEMT Gene

No ASD Table

Relevant External Links for PEMT Gene

GeneLoc Exon Structure for
PEMT

Expression for PEMT Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEMT Gene

mRNA expression in normal human tissues for PEMT Gene
mRNA expression by BioGPS for PEMT GenemRNA expression by GTEx for PEMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for PEMT Gene

This gene is overexpressed in Liver (x7.7).

Protein differential expression in normal tissues from HIPED for PEMT Gene

This gene is overexpressed in Liver (30.4), Ovary (12.6), Retina (7.0), and Fetal ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEMT Gene



Protein tissue co-expression partners for PEMT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEMT

SOURCE GeneReport for Unigene cluster for PEMT Gene:

Hs.714193

Evidence on tissue expression from TISSUES for PEMT Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Skin(4.4)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PEMT: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PEMT Gene

Orthologs for PEMT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEMT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PEMT 30 31
  • 98.87 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PEMT 30 31
  • 86.31 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PEMT 30 31
  • 84.42 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pemt 30
  • 82.58 (n)
Mouse
(Mus musculus)
 Mammalia Pemt 30 17 31
  • 81.07 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PEMT 31
  • 73 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PEMT 31
  • 64 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PEMT 30 31
  • 70.11 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PEMT 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pemt 30
  • 62.29 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16016 30
Zebrafish
(Danio rerio)
 Actinopterygii pemt 30 31
  • 62.6 (n)
 OneToOne
zgc55479 30
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR431C 30
  • 53.37 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes OPI3 30 31 33
  • 51.37 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B14234g 30
  • 49.63 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04699 30
  • 55.78 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cho1 30
  • 45.15 (n)
Species where no ortholog for PEMT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PEMT Gene

ENSEMBL:
Gene Tree for PEMT (if available)
TreeFam:
Gene Tree for PEMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEMT: view image

Paralogs for PEMT Gene

No data available for Paralogs for PEMT Gene

Variants for PEMT Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEMT Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs77857768 Benign: not provided 17,522,370(-) C/T
NM_148172.3(PEMT):c.230G>A (p.Arg77His) 		MISSENSE
rs897453 -. - p.Val58Ilep.Val58Leu
rs70959686 - p.Arg3Trp
rs70965427 - p.Gly194Arg
rs7946 - p.Val175Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PEMT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PEMT Gene

Variant ID Type Subtype PubMed ID
nsv1070394 CNV deletion 25765185
nsv1160458 CNV duplication 26073780
nsv155 OTHER inversion 15895083
nsv470579 CNV loss 18288195
nsv475981 CNV novel sequence insertion 20440878
nsv476636 CNV novel sequence insertion 20440878
nsv499114 OTHER inversion 21111241
nsv523094 CNV loss 19592680
nsv524158 CNV loss 19592680
nsv574524 CNV loss 21841781
nsv574525 CNV loss 21841781
nsv574526 CNV loss 21841781
nsv833383 CNV loss 17160897
nsv833384 CNV loss 17160897
nsv960427 CNV duplication 23825009

Variation tolerance for PEMT Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.89; 83.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEMT Gene

Human Gene Mutation Database (HGMD)
PEMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEMT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEMT Gene

Disorders for PEMT Gene

MalaCards: The human disease database

(7) MalaCards diseases for PEMT Gene - From: COP and GCD

Disorder Aliases PubMed IDs
choline deficiency disease
  • choline deficiency
fatty liver disease
  • alcoholic fatty liver
non-alcoholic steatohepatitis
  • nash
whiplash
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- elite association - COSMIC cancer census association via MalaCards
Search PEMT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PEMT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PEMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEMT Gene

Publications for PEMT Gene

  1. Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2. (PMID: 9989271) Walkey CJ … Vance DE (Biochimica et biophysica acta 1999) 2 3 4 23
  2. Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted. (PMID: 19167960) Ivanov A … Caudill MA (Journal of the American Dietetic Association 2009) 3 23 41
  3. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T … Rudan I (Croatian medical journal 2009) 3 23 41
  4. Polymorphisms of microsomal triglyceride transfer protein gene and phosphatidylethanolamine N-methyltransferase gene in alcoholic and nonalcoholic fatty liver disease in Koreans. (PMID: 19262398) Jun DW … Chae JD (European journal of gastroenterology & hepatology 2009) 3 23 41
  5. Phosphatidylethanolamine N-methyltransferase (PEMT) gene expression is induced by estrogen in human and mouse primary hepatocytes. (PMID: 17456783) Resseguie M … Zeisel SH (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 3 4 23

ExternalLinks

View latest publications for PEMT gene in Mastermind

Products for PEMT Gene

Sources for PEMT Gene