UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:KCC1
HGNC Symbol:SLC12A4
HGNC Description:solute carrier family 12 (potassium/chloride transporter), member 4
HGNC ID:10913
Superfamily:SLC
Chromosome:Chr.16(-): 67977377-68002597 GRCh37
Location:16q22.1
OMIM:604119
OMIM Phenotype:None
Accessions:BC021193
Nucleotide RefSeq:NM_005072
Protein RefSeq:NP_005063
Entrez:6560
Ensembl:ENSG00000124067
Isoforms:5
Evidence:Substrate In Vitro Evidence: K- and Cl- 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub) Tissue Distribution Evidence: Ubiquitous 1. Review article. Hebert SC, et al. Pflugers Archives. 2003 (Epub)
Tissues:Ubiquitous
Type:protein-coding
Sets:0
PharmGKB ID:PA35807
HPRD ID:04987
Substrates:K- and Cl-
Trivial Names:KCC1
Transcripts:NM_005072.4 [Chr.16(-): 67977377-68002597 GRCh37]
NM_001145962.1 [Chr.16(-): 67977377-68002597 GRCh37]
NM_001145961.1 [Chr.16(-): 67977377-68002597 GRCh37]
NM_001145964.1 [Chr.16(-): 67977377-68000781 GRCh37]
NM_001145963.1 [Chr.16(-): 67977377-67997968 GRCh37]
ENST00000316341 [Chr.16(-): 67978231-68002597 GRCh37]
ENST00000338335 [Chr.16(-): 67978230-68002525 GRCh37]
ENST00000422611 [Chr.16(-): 67977377-68002597 GRCh37]
ENST00000537830 [Chr.16(-): 67978496-67997968 GRCh37]
ENST00000541864 [Chr.16(-): 67978385-68000781 GRCh37]
ENST00000570616 [Chr.16(-): 67978641-67979308 GRCh37]
ENST00000570802 [Chr.16(-): 67978388-68002456 GRCh37]
ENST00000571299 [Chr.16(-): 67986119-68003504 GRCh37]
ENST00000572010 [Chr.16(-): 67986145-68003095 GRCh37]
ENST00000572037 [Chr.16(-): 67978317-68002487 GRCh37]
ENST00000572476 [Chr.16(-): 67983474-67984324 GRCh37]
ENST00000572766 [Chr.16(-): 67983810-67985370 GRCh37]
ENST00000573023 [Chr.16(-): 67981004-68002557 GRCh37]
ENST00000573702 [Chr.16(-): 67984272-67985832 GRCh37]
ENST00000574665 [Chr.16(-): 67983702-67985437 GRCh37]
ENST00000575857 [Chr.16(-): 67979448-67981236 GRCh37]
ENST00000576377 [Chr.16(-): 67984896-68002519 GRCh37]
ENST00000576462 [Chr.16(-): 67991432-68002372 GRCh37]
ENST00000576513 [Chr.16(-): 67981964-67984015 GRCh37]
ENST00000576616 [Chr.16(-): 67978388-68002456 GRCh37]
Annotation History:View Events (3)

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 SLC12A4.

Variant Data

View all PMT variants for SLC12A4 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.