Human Gene SLC12A7 (uc003jbu.3)
Description: Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.
Transcript (Including UTRs)
Position: hg19 chr5:1,050,489-1,112,172 Size: 61,684 Total Exon Count: 24 Strand: -
Position: hg19 chr5:1,052,475-1,112,106 Size: 59,632 Coding Exon Count: 24
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Solute carrier family 12 member 7; AltName: Full=Electroneutral potassium-chloride cotransporter 4; AltName: Full=K-Cl cotransporter 4;
FUNCTION: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity). ENZYME REGULATION: Activated by N-ethylmaleimide (NEM). Inhibited by furosemide, DIDS and bumetanide. The inhibition is much stronger in the presence of 50 mM K(+) in the uptake medium. Inhibited by DIOA. Inhibited by WNK3. SUBUNIT: Homomultimer and heteromultimer with other K-Cl cotransporters (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Detected in muscle, brain, lung, heart and kidney. SIMILARITY: Belongs to the SLC12A transporter family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive):
SLC12A7 CDC HuGE Published Literature:
SLC12A7 Positive Disease Associations: Erythrocyte Indices
, Platelet Count
Erythrocyte Indices Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics.
Platelet Count , , .
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
Air Pollutants, Occupational
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Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR004841 - AA-permease_dom
IPR000076 - KCL_cotranspt
IPR004842 - Na/K/Cl_cotransptS
Pfam Domains: PF00324 - Amino acid permease
PF03522 - Solute carrier family 12
ModBase Predicted Comparative 3D Structure on Q9Y666
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
AK026625 - Homo sapiens cDNA: FLJ22972 fis, clone KAT10873, highly similar to AF105365 Homo sapiens K-Cl cotransporter KCC4 mRNA. AL117433 - Homo sapiens mRNA; cDNA DKFZp434F076 (from clone DKFZp434F076); partial cds. AF105365 - Homo sapiens K-Cl cotransporter KCC4 mRNA, complete cds. BC098390 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7, mRNA (cDNA clone MGC:104628 IMAGE:5265743), complete cds. BC007760 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7, mRNA (cDNA clone IMAGE:4127444), complete cds. BC018982 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7, mRNA (cDNA clone IMAGE:4100846). AK024497 - Homo sapiens mRNA for FLJ00105 protein, partial cds. AK024493 - Homo sapiens mRNA for FLJ00098 protein, partial cds. JD519925 - Sequence 500949 from Patent EP1572962. JD490223 - Sequence 471247 from Patent EP1572962. JD202544 - Sequence 183568 from Patent EP1572962. JD106428 - Sequence 87452 from Patent EP1572962. JD155720 - Sequence 136744 from Patent EP1572962. JD149938 - Sequence 130962 from Patent EP1572962. JD309647 - Sequence 290671 from Patent EP1572962. JD432386 - Sequence 413410 from Patent EP1572962. JD104040 - Sequence 85064 from Patent EP1572962. JD094353 - Sequence 75377 from Patent EP1572962. JD171416 - Sequence 152440 from Patent EP1572962. JD416924 - Sequence 397948 from Patent EP1572962. JD486988 - Sequence 468012 from Patent EP1572962. JD496241 - Sequence 477265 from Patent EP1572962. JD059116 - Sequence 40140 from Patent EP1572962. JD431542 - Sequence 412566 from Patent EP1572962. JD427290 - Sequence 408314 from Patent EP1572962. JD515068 - Sequence 496092 from Patent EP1572962. JD370746 - Sequence 351770 from Patent EP1572962. JD105210 - Sequence 86234 from Patent EP1572962. JD318391 - Sequence 299415 from Patent EP1572962. JD101538 - Sequence 82562 from Patent EP1572962. JD072688 - Sequence 53712 from Patent EP1572962. JD395306 - Sequence 376330 from Patent EP1572962. JD233430 - Sequence 214454 from Patent EP1572962. JD355320 - Sequence 336344 from Patent EP1572962. JD530384 - Sequence 511408 from Patent EP1572962. JD131329 - Sequence 112353 from Patent EP1572962. JD527430 - Sequence 508454 from Patent EP1572962. JD180452 - Sequence 161476 from Patent EP1572962. JD464589 - Sequence 445613 from Patent EP1572962. JD188407 - Sequence 169431 from Patent EP1572962. JD109223 - Sequence 90247 from Patent EP1572962. JD443350 - Sequence 424374 from Patent EP1572962. KY966276 - Homo sapiens cell line 93T449 SUCO/SLC12A7 fusion mRNA, partial sequence. KY966297 - Homo sapiens cell line 94T778 SUCO/SLC12A7 fusion mRNA, partial sequence. JD203692 - Sequence 184716 from Patent EP1572962. KJ904659 - Synthetic construct Homo sapiens clone ccsbBroadEn_14053 SLC12A7 gene, encodes complete protein. JD187341 - Sequence 168365 from Patent EP1572962. JD100692 - Sequence 81716 from Patent EP1572962. JD110998 - Sequence 92022 from Patent EP1572962. AK302856 - Homo sapiens cDNA FLJ59172 complete cds, highly similar to Solute carrier family 12 member 7. CU675797 - Synthetic construct Homo sapiens gateway clone IMAGE:100018667 5' read SLC12A7 mRNA. JD020857 - Sequence 1881 from Patent EP1572962. JD031124 - Sequence 12148 from Patent EP1572962. JD027708 - Sequence 8732 from Patent EP1572962. JD025353 - Sequence 6377 from Patent EP1572962. MP015310 - Sequence 513 from Patent WO2019016252.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04966 - Collecting duct acid secretion
Reactome (by CSHL, EBI, and GO) Protein Q9Y666 ( Reactome details) participates in the following event(s): R-HSA-426155 SLC12A4,5,6,7 cotransport K+, Cl- from cytosol to extracellular region
R-HSA-426117 Cation-coupled Chloride cotransporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules
Other Names for This Gene
Alternate Gene Symbols: A6NDS8, KCC4, NM_006598, NP_006589, Q4G0F3, Q96I81, Q9H7I3, Q9H7I7, Q9UFW2, Q9Y666, S12A7_HUMAN UCSC ID: uc003jbu.3 RefSeq Accession: NM_006598
(aka S12A7_HUMAN or S127_HUMAN) Q9Y666
Gene Model Information
24 CDS single in 3' UTR:
3252 CDS single in intron:
Alignment % ID:
5014.00 frame shift in genome:
has start codon:
stop codon in genome:
# of Alignments:
has end codon:
# AT/AC introns
end bleed into intron:
0 # strange splices:
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.