ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

DGKB

Full Name:

diacylglycerol kinase, beta 90kDa

Alias:

DAGK2|DGK|DGK-BETA|KIAA0718

Organism:

Homo sapiens (Human)

Chromosome:

7

Genetic Location:

7p21.2

Physical Location:

14153769-14847412 on NC_000007.12, 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
rs2191480 dbSNP	1.33	28
rs217560 dbSNP	1.17	28

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_004080.1	NP_004071.1	NC_000007.12 range: 14153769..14847412, complement
NM_145695.1	NP_663733.1	NC_000007.12 range: 14153769..14847412, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0004143	diacylglycerol kinase activity	Molecular Function	IEA
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (17353931)
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0019992	diacylglycerol binding	Molecular Function	IEA
GO:0007205	activation of protein kinase C activity	Biological Process	IEA
GO:0007242	intracellular signaling cascade	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: