ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PMS2

Full Name:

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

Alias:

HNPCC4|PMS2CL|PMSL2

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

7p22.2

Physical Location:

5979395-6015262 on NC_000007.12, 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)

D7S517

4464441

Region:		2464441-6464441
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:0005634	nucleus	Cellular Component	IC (10871409)
GO:0016787	hydrolase activity	Molecular Function	IEA
GO:0032138	single base insertion or deletion binding	Molecular Function	IDA (10871409)
GO:0032407	MutSalpha complex binding	Molecular Function	IDA (16403449)
GO:0003677	DNA binding	Molecular Function	IDA (10871409)
GO:0005524	ATP binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (11793469)
GO:0004519	endonuclease activity	Molecular Function	IEA
GO:0003697	single-stranded DNA binding	Molecular Function	IDA (11809883)
GO:0030983	mismatched DNA binding	Molecular Function	IEA
GO:0006298	mismatch repair	Biological Process	IEA
GO:0006298	mismatch repair	Biological Process	IDA (10871409)
GO:0045786	negative regulation of cell cycle	Biological Process	IEA