ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PIP5K3

Full Name:

phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III

Alias:

CFD|KIAA0981|MGC40423|PIKFYVE|PIP5K

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q33.3

Physical Location:

208839235-208931719 on NC_000002.10

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)

D2S117

195326948

Region:		195326948-216757195
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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0045121	membrane raft	Cellular Component	IDA (15046600)
GO:0031901	early endosome membrane	Cellular Component	IDA (16448788)
GO:0005768	endosome	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	Molecular Function	TAS (15046600)
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	Molecular Function	IEA
GO:0016301	kinase activity	Molecular Function	IEA
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (15046600)
GO:0005524	ATP binding	Molecular Function	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0019722	calcium-mediated signaling	Biological Process	TAS (15046600)
GO:0007242	intracellular signaling cascade	Biological Process	IEA
GO:0044267	cellular protein metabolic process	Biological Process	IEA
GO:0007242	intracellular signaling cascade	Biological Process	TAS (15046600)
GO:0046488	phosphatidylinositol metabolic process	Biological Process	IEA