PEMT (phosphatidylethanolamine N-methyltransferase)

2007-02-01  

Identity

HGNC
PEMT
LOCATION
17p11.2
LOCUSID
10400
ALIAS
PEAMT,PEMPT,PEMT2,PLMT,PNMT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10400
MIM: 602391
HGNC: 8830
Ensembl: ENSG00000133027

Variants:

dbSNP: 10400
ClinVar: 10400
TCGA: ENSG00000133027
COSMIC: PEMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133027ENST00000255389Q9UBM1
ENSG00000133027ENST00000395781Q9UBM1
ENSG00000133027ENST00000395782Q9UBM1
ENSG00000133027ENST00000395783Q9UBM1
ENSG00000133027ENST00000435340D3YTC7
ENSG00000133027ENST00000461404J3QLU8
ENSG00000133027ENST00000580147J3KTR2

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Phosphatidylcholine (PC) biosynthesis, PE => PCKEGGM00091
Phosphatidylcholine (PC) biosynthesis, PE => PCKEGGhsa_M00091
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168161082006Common genetic polymorphisms affect the human requirement for the nutrient choline.82
174567832007Phosphatidylethanolamine N-methyltransferase (PEMT) gene expression is induced by estrogen in human and mouse primary hepatocytes.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
160516932005Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD).61
182306802008Choline metabolism and risk of breast cancer in a population-based study.48
182306802008Choline metabolism and risk of breast cancer in a population-based study.48
210596582011Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction.38
192601412009Genome-wide association study of biochemical traits in Korcula Island, Croatia.30
198785692009Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.28

Citation

Dessen P

PEMT (phosphatidylethanolamine N-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45554/pemt