ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SLC12A5

Full Name:

solute carrier family 12, (potassium-chloride transporter) member 5

Alias:

KCC2|KIAA1176

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

20q13.12

Physical Location:

44091244-44122195 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_020708.3	NP_065759.1	NC_000020.9 range: 44091244..44122195

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016021	integral to membrane	Cellular Component	NAS (12106695)
GO:0016020	membrane	Cellular Component	IEA
GO:0005215	transporter activity	Molecular Function	IEA
GO:0015379	potassium:chloride symporter activity	Molecular Function	NAS (12106695)
GO:0015293	symporter activity	Molecular Function	IEA
GO:0030955	potassium ion binding	Molecular Function	IEA
GO:0006821	chloride transport	Biological Process	IEA
GO:0006814	sodium ion transport	Biological Process	IEA
GO:0006813	potassium ion transport	Biological Process	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0006873	cellular ion homeostasis	Biological Process	NAS (12106695)