ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PEMT

Full Name:

phosphatidylethanolamine N-methyltransferase

Alias:

MGC2483|PEAMT|PEMPT|PEMT2|PNMT

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

17p11.2

Physical Location:

17349601-17435718 on NC_000017.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 18618 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:		Hs.287717
Note:		"Class II, up-regulated gene"

Dataset Information

Name:		16292326
Method:		Microarray
Tissue:		Frontal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Liu et al. Neuropsychopharmacology. (2006) Patterns of gene expression in the frontal cortex discriminate alcoholic from nonalcoholic individuals. PubMed
Summary:		In the present study, microarray analysis (approximately 47,000 elements) was performed on the superior frontal cortex of 27 individual human cases (14 well characterized alcoholics and 13 matched controls). A classification system was developed in which differentially expressed genes were divided into two classes. Class I genes were qualitatively different, that is, they were predominantly detected in one group but not the other. Multiple criteria were used to define Class II genes. First, only the genes detected on over 80% of the arrays in both groups. Class II were then defined as those consistently detected in both groups having absolute PLS loadings scores of >2.0 and t- probabilities of <0.05.

Gene Information

Original ID1:

PEMT

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D17S1857

16355942

Region:		14355942-18355942
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0031966	mitochondrial membrane	Cellular Component	IEA
GO:0005739	mitochondrion	Cellular Component	IEA
GO:0005783	endoplasmic reticulum	Cellular Component	IEA
GO:0005789	endoplasmic reticulum membrane	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0008170	N-methyltransferase activity	Molecular Function	IEA
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	Molecular Function	TAS (9989271)
GO:0008283	cell proliferation	Biological Process	TAS (9989271)
GO:0008654	phospholipid biosynthetic process	Biological Process	IEA
GO:0006656	phosphatidylcholine biosynthetic process	Biological Process	TAS (9989271)
GO:0006644	phospholipid metabolic process	Biological Process	IEA
GO:0006629	lipid metabolic process	Biological Process	TAS (9989271)