UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:KCC2
HGNC Symbol:SLC12A5
HGNC Description:solute carrier family 12 (potassium/chloride transporter), member 5
HGNC ID:13818
Chromosome:Chr.20(+): 44650329-44688789 GRCh37
OMIM Phenotype:None
Nucleotide RefSeq:NM_001134771
Protein RefSeq:NP_001128243
Evidence:Substrate In Vitro Evidence: K- and Cl- 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub) Substrate In Vivo Evidence: K.O. mouse has severe seizure disorder and early postnatal mortality 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub) Tissue Distribution Evidence: CNS and Retina (Neuron-specific) 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub)
Tissues:CNS, Retina
PharmGKB ID:PA37814
HPRD ID:09469
Substrates:K- and Cl-
Trivial Names:KCC2
Transcripts:NM_001134771.1 [Chr.20(+): 44650329-44688789 GRCh37]
NM_020708.4 [Chr.20(+): 44657821-44688789 GRCh37]
XM_005260470.1 [Chr.20(+): 44657815-44688789 GRCh37]
ENST00000243964 [Chr.20(+): 44657886-44688784 GRCh37]
ENST00000372315 [Chr.20(+): 44657835-44669799 GRCh37]
ENST00000413737 [Chr.20(+): 44650489-44652228 GRCh37]
ENST00000428198 [Chr.20(+): 44650415-44656438 GRCh37]
ENST00000454036 [Chr.20(+): 44650356-44686341 GRCh37]
ENST00000539566 [Chr.20(+): 44657863-44678292 GRCh37]
ENST00000608594 [Chr.20(+): 44671836-44672503 GRCh37]
ENST00000608944 [Chr.20(+): 44657648-44665444 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Expression values:
No expression data exists for SLC12A5.

Variant Data

View all PMT variants for SLC12A5 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.