ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

EFNA5

Full Name:

ephrin-A5

Alias:

AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS

Organism:

Homo sapiens (Human)

Chromosome:

5

Genetic Location:

5q21

Physical Location:

106744249-107034494 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 SNP Information

SNP	Abuser/Control Ratio	Cluster
rs152608 dbSNP	0.83	19
rs164838 dbSNP	0.8	19

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_001962.1	NP_001953.1	NC_000005.8 range: 106744249..107034494, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005615	extracellular space	Cellular Component	TAS (9245480)
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0046658	anchored to plasma membrane	Cellular Component	TAS (9245480)
GO:0046875	ephrin receptor binding	Molecular Function	TAS (9245480)
GO:0007267	cell-cell signaling	Biological Process	TAS (9245480)
GO:0007275	multicellular organismal development	Biological Process	IEA
GO:0007399	nervous system development	Biological Process	TAS (9245480)
GO:0030154	cell differentiation	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000184349

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: