UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:KCC4
HGNC Symbol:SLC12A7
HGNC Description:solute carrier family 12 (potassium/chloride transporter), member 7
HGNC ID:10915
Superfamily:SLC
Chromosome:Chr.5(-): 1050489-1112172 GRCh37
Location:5p15
OMIM:604879
OMIM Phenotype:None
Accessions:AF105365
Nucleotide RefSeq:NM_006598
Protein RefSeq:NP_006589
Entrez:10723
Ensembl:ENSG00000113504
Isoforms:2
Evidence:Substrate In Vitro Evidence: No functional information on the human KCC4 transporter is available. Mouse KCC3, the closest ortholog for which functional information is available, is an electroneutral potassium/chloride cotransporter (Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem 274(23): 16355-62, 1999). Substrate In Vivo Evidence: Targeted knockout of Kcc4 in mice revealed the importance of this potassium/chloride transporter to hearing and renal acid-base metabolism (Boettger T, Hubner CA, Maier H, Rust MB, Beck FX, Jentsch TJ. Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4. Nature 416(6883): 874-8,2002). Tissue Distribution Evidence: KCC4 mRNA is present in skeletal muscle, brain, lung, heart, kidney as determined by Northern blot (Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem 274(23): 16355-62, 1999). At least two different transcripts of 6-7kb in size hybridized to the KCC4 probe, consistent with alternative splicing.
Tissues:Skeletal muscle, brain, lung, heart, kidney
Type:protein-coding
Sets:0
PharmGKB ID:PA35809
HPRD ID:09221
Substrates:K+, Cl-
Trivial Names:KCC4
Transcripts:NM_006598.2 [Chr.5(-): 1050489-1112172 GRCh37]
XM_005248231.1 [Chr.5(-): 1050499-1112166 GRCh37]
ENST00000264930 [Chr.5(-): 1050499-1112150 GRCh37]
ENST00000504576 [Chr.5(-): 1074681-1076897 GRCh37]
ENST00000510943 [Chr.5(-): 1078634-1081773 GRCh37]
ENST00000513223 [Chr.5(-): 1057643-1074825 GRCh37]
ENST00000514994 [Chr.5(-): 1057326-1063997 GRCh37]
Annotation History:View Events (10)

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.

Tissues:
Expression values:
No expression data exists for SLC12A7.

Variant Data

View all PMT variants for SLC12A7 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.