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: -
Coding Region
   Position: hg19 chr5:1,052,475-1,112,106 Size: 59,632 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:1,050,489-1,112,172)mRNA (may differ from genome)Protein (1083 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: S12A7_HUMAN
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
Related Studies:
  1. Erythrocyte Indices
    Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics. [PubMed 20139978]
  2. Platelet Count
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC12A7
Diseases sorted by gene-association score: agenesis of the corpus callosum with peripheral neuropathy (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C095651 ((2-n-butyl-6,7-dichloro-2-cyclopentyl-2,3-dihydro-1-oxo-1H-inden-5-yl)oxy)acetic acid
  • C033146 1-hydroxypyrene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • D017878 4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid
  • C105260 4-tert-octylphenol
  • D000082 Acetaminophen
  • D000395 Air Pollutants, Occupational
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.24 RPKM in Kidney - Cortex
Total median expression: 685.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.1066-0.486 Picture PostScript Text
3' UTR -827.611986-0.417 Picture PostScript Text

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
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0015293 symporter activity
GO:0015377 cation:chloride symporter activity
GO:0015379 potassium:chloride symporter activity
GO:0019901 protein kinase binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006884 cell volume homeostasis
GO:0007268 chemical synaptic transmission
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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
Protein: Q9Y666 (aka S12A7_HUMAN or S127_HUMAN)
CCDS: CCDS34129.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006598.2
exon count: 24CDS single in 3' UTR: no RNA size: 5316
ORF size: 3252CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5014.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 1
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.