ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

AFG3L2

Full Name:

AFG3 ATPase family gene 3-like 2 (yeast)

Alias:

FLJ25993

Organism:

Homo sapiens (Human)

Chromosome:

18

Genetic Location:

18p11

Physical Location:

12319107-12367193 on NC_000018.8, complement

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)

D18S53

11482730

Region:		9482730-13482730
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_006796.1	NP_006787.1	NC_000018.8 range: 12319107..12367193, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016020	membrane	Cellular Component	IEA
GO:0031966	mitochondrial membrane	Cellular Component	IEA
GO:0005739	mitochondrion	Cellular Component	TAS (10395799)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0017111	nucleoside-triphosphatase activity	Molecular Function	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	IEA
GO:0004222	metalloendopeptidase activity	Molecular Function	IEA
GO:0051082	unfolded protein binding	Molecular Function	TAS (10395799)
GO:0006508	proteolysis	Biological Process	IEA
GO:0030163	protein catabolic process	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000141385

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: