Property Summary

NCBI Gene PubMed Count 57
PubMed Score 86.52
PubTator Score 90.99

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count P-value
tuberculosis 1563 2.67290268320948E-6
intraductal papillary-mucinous neoplasm (IPMN) 3289 6.07956269239029E-4
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00320992667000579
ductal carcinoma in situ 1745 0.00483659848074604
non primary Sjogren syndrome sicca 840 0.0240190106878873
invasive ductal carcinoma 2950 0.0241040621588593
Disease Target Count Z-score Confidence
nutritional deficiency disease 10 3.105 1.6



Accession Q9UBM1 A8MZ66 B4DY41 D3DXC3 Q6IAQ5 Q86VL3 Q9BW86 Q9UHY6 Q9Y6V9 PEAMT
Symbols PLMT


  Ortholog (13)

Gene RIF (42)

26728177 Data show that phosphatidylethanolamineN-methyltransferase (PEMT) rs12325817 polymorphism only marginally changed the association value with academic achievement.
26636496 a significant association between the PEMT rs7946 A-allele and a risk of nonalcoholic fatty liver disease, with the effect being more prominent in East-Asians, but not in non-Asians (Meta-Analysis)
26025328 Data suggest that maternal dietary intake during lactation (here, choline intake exceeding dietary recommendations) can alter hepatic PEMT activity and increase choline content of breast milk.
25074646 MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of type 2 diabetes in Han Chinese.
23794489 The GG genotype of the PEMT G774C polymorphism, higher levels of serum homocysteine and lower levels of serum betaine are associated with an increased risk of microangiopathy in patients with diabetes.
22387881 the PEMT -774G>C and CHDH +432G>T polymorphisms were associated with sperm concentration. This finding suggests a possible influence of these genes on sperm quality
21881829 PEMT is a functional single nucleotide polymorphism (rs7946) in PEMT with sporadic Alzheimer's disease risk in a Han Chinese population.
21429654 genetic association studies on endometriosis in a population of women in Poland: Data suggest interaction between an SNP in PEMT (rs4244593) and an SNP in MTHFR (Ala222Val; rs1801133) in infertile women with some indication of endometriosis.
21411618 nvestigation of factors affecting liver PEMT activity: PEMT activity is lower in liver samples from women who are homozygous for an SNP in PEMT (rs12325817)
21059658 allele-specific ablation of estrogen receptor-DNA interaction in the PEMT locus prevents hormone-inducible PEMT expression, conferring risk of choline deficiency in women

AA Sequence


Text Mined References (61)

PMID Year Title
26728177 2016 Plasma 1-carbon metabolites and academic achievement in 15-yr-old adolescents.
26636496 2016 Phosphatidylethanolamine N-methyltransferase gene rs7946 polymorphism plays a role in risk of nonalcoholic fatty liver disease: evidence from meta-analysis.
26025328 2015 Choline intakes exceeding recommendations during human lactation improve breast milk choline content by increasing PEMT pathway metabolites.
25074646 2014 Associations of common variants in methionine metabolism pathway genes with plasma homocysteine and the risk of type 2 diabetes in Han Chinese.
24270810 2013 High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy.
24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
23794489 2013 Higher homocysteine and lower betaine increase the risk of microangiopathy in patients with diabetes mellitus carrying the GG genotype of PEMT G774C.
22387881 2012 Phosphatidylethanolamine N-methyltransferase and choline dehydrogenase gene polymorphisms are associated with human sperm concentration.
21881829 2012 PEMT G523A (V175M) is associated with sporadic Alzheimer's disease in a Chinese population.
21429654 2011 Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.