ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

DHFR

Full Name:

dihydrofolate reductase

Organism:

Homo sapiens (Human)

Chromosome:

5

Genetic Location:

5q11.2-q13.2

Physical Location:

79957800-79986555 on NC_000005.8, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

DHFR

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs1643658 dbSNP	0.83	18

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_000791.3	NP_000782.1	NC_000005.8 range: 79957800..79986555, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005575	cellular_component	Cellular Component	ND
GO:0004146	dihydrofolate reductase activity	Molecular Function	NAS (6687716)
GO:0016491	oxidoreductase activity	Molecular Function	IEA
GO:0006545	glycine biosynthetic process	Biological Process	NAS
GO:0006730	one-carbon compound metabolic process	Biological Process	IEA
GO:0009165	nucleotide biosynthetic process	Biological Process	NAS

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: