ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

MAP3K7

Full Name:

mitogen-activated protein kinase kinase kinase 7

Alias:

TAK1|TGF1a

Organism:

Homo sapiens (Human)

Chromosome:

6

Genetic Location:

6q16.1-q16.3

Physical Location:

91282073-91353627 on NC_000006.10, 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
rs1753826 dbSNP	0.71	26
rs806284 dbSNP	0.85	26
rs1145735 dbSNP	1.19	26

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_003188.2	NP_003179.1	NC_000006.10 range: 91282073..91353627, complement
NM_145331.1	NP_663304.1	NC_000006.10 range: 91282073..91353627, complement
NM_145332.1	NP_663305.1	NC_000006.10 range: 91282073..91353627, complement
NM_145333.1	NP_663306.1	NC_000006.10 range: 91282073..91353627, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005829	cytosol	Cellular Component	EXP (9162092\|9744859\|10066798\|12609980)
GO:0016740	transferase activity	Molecular Function	IEA
GO:0016301	kinase activity	Molecular Function	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (15075345)
GO:0004713	protein-tyrosine kinase activity	Molecular Function	IEA
GO:0004709	MAP kinase kinase kinase activity	Molecular Function	TAS (9466656)
GO:0004674	protein serine/threonine kinase activity	Molecular Function	IEA
GO:0000287	magnesium ion binding	Molecular Function	IEA
GO:0050852	T cell receptor signaling pathway	Biological Process	NAS (15125833)
GO:0032743	positive regulation of interleukin-2 production	Biological Process	IMP (15125833)
GO:0002726	positive regulation of T cell cytokine production	Biological Process	IMP (15125833)
GO:0007250	activation of NF-kappaB-inducing kinase activity	Biological Process	IMP (15125833)
GO:0007179	transforming growth factor beta receptor signaling pathway	Biological Process	TAS (9466656)
GO:0006468	protein amino acid phosphorylation	Biological Process	IEA
GO:0050870	positive regulation of T cell activation	Biological Process	IC (15125833)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000135341

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: