ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PCTP

Full Name:

phosphatidylcholine transfer protein

Alias:

STARD2

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

17q21-q24

Physical Location:

51183354-51209746 on NC_000017.9

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 29510 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs10515112 dbSNP	0.76	50

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Gene Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005829	cytosol	Cellular Component	NAS (10542325)
GO:0008289	lipid binding	Molecular Function	IEA
GO:0008525	phosphatidylcholine transmembrane transporter activity	Molecular Function	TAS (10500206\|10542325)
GO:0006869	lipid transport	Biological Process	NAS (10542325)