ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SLC10A2

Full Name:

solute carrier family 10 (sodium/bile acid cotransporter family), member 2

Alias:

ASBT|ISBT|NTCP2

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

13q33

Physical Location:

102494350-102517196 on NC_000013.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs279929 dbSNP	1.39	43

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

mRNA	Protein	Reference assembly Genomic
NM_000452.2	NP_000443.1	NC_000013.9 range: 102494350..102517196, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005886	plasma membrane	Cellular Component	TAS (9109432)
GO:0005887	integral to plasma membrane	Cellular Component	TAS (7592981)
GO:0008508	bile acid:sodium symporter activity	Molecular Function	TAS (9109432)
GO:0015293	symporter activity	Molecular Function	IEA
GO:0031402	sodium ion binding	Molecular Function	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0006814	sodium ion transport	Biological Process	IEA
GO:0015711	organic anion transport	Biological Process	IEA