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Gene Information
Gene ID:57468
Symbol:SLC12A5
Full Name:solute carrier family 12, (potassium-chloride transporter) member 5
Alias:KCC2|KIAA1176
Organism:Homo sapiens (Human)
Chromosome:20
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
MarkerLODP valueLocation (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
mRNAProteinReference assembly Genomic
NM_020708.3NP_065759.1NC_000020.9 range: 44091244..44122195
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0016021integral to membraneCellular ComponentNAS (12106695)
GO:0016020membraneCellular ComponentIEA
GO:0005215transporter activityMolecular FunctionIEA
GO:0015379potassium:chloride symporter activityMolecular FunctionNAS (12106695)
GO:0015293symporter activityMolecular FunctionIEA
GO:0030955potassium ion bindingMolecular FunctionIEA
GO:0006821chloride transportBiological ProcessIEA
GO:0006814sodium ion transportBiological ProcessIEA
GO:0006813potassium ion transportBiological ProcessIEA
GO:0006811ion transportBiological ProcessIEA
GO:0006873cellular ion homeostasisBiological ProcessNAS (12106695)
Other Database Cross Links
NCBI Entrez Gene:57468
HGNC:13818
Ensembl:ENSG00000124140
MIM:606726
HPRD:09469
HuGE Navigator:57468
dbSNP:SLC12A5
GeneCard:SLC12A5
AceView:SLC12A5