ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

DOCK2

Full Name:

dedicator of cytokinesis 2

Alias:

FLJ46592|KIAA0209

Organism:

Homo sapiens (Human)

Chromosome:

5

Genetic Location:

5q35.1

Physical Location:

168996870-169442958 on NC_000005.8

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
rs261612 dbSNP	1.25	23
rs1477316 dbSNP	1.26	23
rs1477317 dbSNP	1.28	23

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_004946.1	NP_004937.1	NC_000005.8 range: 168996870..169442958

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005829	cytosol	Cellular Component	EXP (14737186)
GO:0005856	cytoskeleton	Cellular Component	IEA
GO:0012505	endomembrane system	Cellular Component	IEA
GO:0005085	guanyl-nucleotide exchange factor activity	Molecular Function	IEA
GO:0042608	T cell receptor binding	Molecular Function	IDA (12176041)
GO:0030676	Rac guanyl-nucleotide exchange factor activity	Molecular Function	IDA (10559471)
GO:0020037	heme binding	Molecular Function	IEA
GO:0009055	electron carrier activity	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (12134158)
GO:0005506	iron ion binding	Molecular Function	IEA
GO:0030036	actin cytoskeleton organization and biogenesis	Biological Process	TAS (12176041)
GO:0048247	lymphocyte chemotaxis	Biological Process	ISS (11518968)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000134516

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: