ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

EYA2

Full Name:

eyes absent homolog 2 (Drosophila)

Alias:

EAB1|MGC10614

Organism:

Homo sapiens (Human)

Chromosome:

20

Genetic Location:

20q13.1

Physical Location:

44956915-45250898 on NC_000020.9

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D20S119

43082264

Region:		41082264-45082264
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_005244.3	NP_005235.3	NC_000020.9 range: 44956915..45250898
NM_172110.1	NP_742108.1	NC_000020.9 range: 44956915..45250898
NM_172111.1	NP_742109.1	NC_000020.9 range: 44956915..45250898
NM_172112.1	NP_742110.1	NC_000020.9 range: 44956915..45250898
NM_172113.1	NP_742111.1	NC_000020.9 range: 44956915..45250898

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005634	nucleus	Cellular Component	IEA
GO:0000287	magnesium ion binding	Molecular Function	IEA
GO:0016787	hydrolase activity	Molecular Function	IEA
GO:0004725	protein tyrosine phosphatase activity	Molecular Function	IEA
GO:0003824	catalytic activity	Molecular Function	IEA
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0007275	multicellular organismal development	Biological Process	IEA
GO:0007501	mesodermal cell fate specification	Biological Process	TAS (9020840)
GO:0008152	metabolic process	Biological Process	IEA
GO:0006350	transcription	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000064655

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: