ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

ATPAF2

Full Name:

ATP synthase mitochondrial F1 complex assembly factor 2

Alias:

ATP12|ATP12p|LP3663|MGC29736

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

17p11.2

Physical Location:

17862058-17883204 on NC_000017.9, 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)

D17S1857

16355942

Region:		14355942-18355942
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_145691.3	NP_663729.1	NC_000017.9 range: 17862058..17883204, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005739	mitochondrion	Cellular Component	IEA
GO:0016607	nuclear speck	Cellular Component	IDA (11256614)
GO:0005515	protein binding	Molecular Function	IPI (11410595)
GO:0043461	proton-transporting ATP synthase complex assembly	Biological Process	NAS (14757859)