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Aliases for SLC12A7 Gene

Aliases for SLC12A7 Gene

  • Solute Carrier Family 12 Member 7 2 3 5
  • Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 7 2 3
  • Electroneutral Potassium-Chloride Cotransporter 4 3 4
  • K-Cl Cotransporter 4 3 4
  • KCC4 3 4
  • Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 7 3
  • Potassium/Chloride Transporter KCC4 3

External Ids for SLC12A7 Gene

Previous GeneCards Identifiers for SLC12A7 Gene

  • GC05M001254
  • GC05P001115
  • GC05M001083
  • GC05M001103
  • GC05M001032

Summaries for SLC12A7 Gene

GeneCards Summary for SLC12A7 Gene

SLC12A7 (Solute Carrier Family 12 Member 7) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. GO annotations related to this gene include protein kinase binding and potassium:chloride symporter activity. An important paralog of this gene is SLC12A5.

UniProtKB/Swiss-Prot for SLC12A7 Gene

  • 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).

Gene Wiki entry for SLC12A7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A7 Gene

Genomics for SLC12A7 Gene

Regulatory Elements for SLC12A7 Gene

Enhancers for SLC12A7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G001101 1.8 FANTOM5 ENCODE dbSUPER 83.1 +48.9 48872 11.5 HDGF CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 SLC12A7 CTD-3080P12.3 TPPP LPCAT1 GC05M001107 MIR4635
GH05G001096 1.2 Ensembl ENCODE dbSUPER 41.9 +57.8 57776 2.1 ZBTB10 ETV1 MAX ZBTB7A RAD21 YY1 FOXA1 GABPA ZNF366 HNF4G SLC12A7 LOC100506688 GC05M001107 MIR4635
GH05G001100 0.8 ENCODE dbSUPER 57.5 +55.1 55146 0.8 MAFF ZNF316 ZNF341 RBBP5 ZIC2 MAFK RBFOX2 SLC12A7 GC05M001107 MIR4635
GH05G001112 1 ENCODE dbSUPER 45.9 +42.5 42518 1.1 PKNOX1 JUN BACH1 MAX HIC1 TCF12 ZNF316 ZFHX2 KDM5B FOS SLC12A7 LOC105374612 GC05P001123
GH05G001117 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +37.0 37010 1.9 PKNOX1 MLX ARID4B YY1 TCF12 ZNF121 GLIS2 FOS KLF13 SP5 SLC12A7 LOC100132773 LOC100421419 ENSG00000250173 CTD-3080P12.3 GC05P001123 LOC105374612
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC12A7 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC12A7 Gene

Chromosome:
5
Start:
1,050,374 bp from pter
End:
1,155,747 bp from pter
Size:
105,374 bases
Orientation:
Minus strand

Genomic View for SLC12A7 Gene

Genes around SLC12A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC12A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A7 Gene

Proteins for SLC12A7 Gene

  • Protein details for SLC12A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y666-S12A7_HUMAN
    Recommended name:
    Solute carrier family 12 member 7
    Protein Accession:
    Q9Y666
    Secondary Accessions:
    • A6NDS8
    • Q4G0F3
    • Q96I81
    • Q9H7I3
    • Q9H7I7
    • Q9UFW2

    Protein attributes for SLC12A7 Gene

    Size:
    1083 amino acids
    Molecular mass:
    119106 Da
    Quaternary structure:
    • Homomultimer and heteromultimer with other K-Cl cotransporters.

    Alternative splice isoforms for SLC12A7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A7 Gene

Post-translational modifications for SLC12A7 Gene

  • Ubiquitination at Lys937, isoforms=976, Lys1002, and Lys1008
  • Glycosylation at Asn312 and isoforms=360
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC12A7 Gene

Domains & Families for SLC12A7 Gene

Gene Families for SLC12A7 Gene

Protein Domains for SLC12A7 Gene

Suggested Antigen Peptide Sequences for SLC12A7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y666

UniProtKB/Swiss-Prot:

S12A7_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A7: view

Function for SLC12A7 Gene

Molecular function for SLC12A7 Gene

GENATLAS Biochemistry:
solute carrier family 12 (sodium/potassium/chloride cotransporter),highly expressed in muscle,brain,heart,lung and kidney,regulated in vascular endothelial cells by EGF
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SLC12A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015293 symporter activity IEA --
GO:0015377 cation:chloride symporter activity IEA --
GO:0015379 potassium:chloride symporter activity TAS,IEA --
GO:0019901 protein kinase binding IPI 24393035
GO:0022820 potassium ion symporter activity IBA --
genes like me logo Genes that share ontologies with SLC12A7: view
genes like me logo Genes that share phenotypes with SLC12A7: view

Animal Models for SLC12A7 Gene

MGI Knock Outs for SLC12A7:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC12A7

CRISPR Products

miRNA for SLC12A7 Gene

miRTarBase miRNAs that target SLC12A7

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC12A7 Gene

Localization for SLC12A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A7 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC12A7 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC12A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC12A7: view

Pathways & Interactions for SLC12A7 Gene

genes like me logo Genes that share pathways with SLC12A7: view

Gene Ontology (GO) - Biological Process for SLC12A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 10347194
GO:0006811 ion transport TAS,IEA --
GO:0006813 potassium ion transport IEA --
GO:0006884 cell volume homeostasis IEA --
GO:0007268 chemical synaptic transmission IBA --
genes like me logo Genes that share ontologies with SLC12A7: view

No data available for SIGNOR curated interactions for SLC12A7 Gene

Drugs & Compounds for SLC12A7 Gene

(3) Drugs for SLC12A7 Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Chloride Approved, Withdrawn Pharma Target, Transporter, substrate 0
DIOA Pharma Inhibition, Inhibitor 0

(3) Additional Compounds for SLC12A7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with SLC12A7: view

Transcripts for SLC12A7 Gene

Unigene Clusters for SLC12A7 Gene

Solute carrier family 12 (potassium/chloride transporters), member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A7 Gene

No ASD Table

Relevant External Links for SLC12A7 Gene

GeneLoc Exon Structure for
SLC12A7
ECgene alternative splicing isoforms for
SLC12A7

Expression for SLC12A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC12A7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC12A7 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for SLC12A7 Gene

This gene is overexpressed in Nasal epithelium (28.0), Testis (12.9), Adrenal (7.8), and Ovary (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC12A7 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC12A7 Gene:

SLC12A7

SOURCE GeneReport for Unigene cluster for SLC12A7 Gene:

Hs.172613

mRNA Expression by UniProt/SwissProt for SLC12A7 Gene:

Q9Y666-S12A7_HUMAN
Tissue specificity: Detected in muscle, brain, lung, heart and kidney.

Evidence on tissue expression from TISSUES for SLC12A7 Gene

  • Nervous system(4.5)
  • Spleen(4.3)
  • Liver(4.2)
  • Kidney(2.8)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with SLC12A7: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A7 Gene

Orthologs for SLC12A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC12A7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC12A7 34 35
  • 96.7 (n)
dog
(Canis familiaris)
Mammalia SLC12A7 34 35
  • 86.78 (n)
rat
(Rattus norvegicus)
Mammalia Slc12a7 34
  • 85.29 (n)
mouse
(Mus musculus)
Mammalia Slc12a7 34 16 35
  • 84.64 (n)
cow
(Bos Taurus)
Mammalia SLC12A7 34 35
  • 84.05 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A7 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A7 34 35
  • 70.03 (n)
lizard
(Anolis carolinensis)
Reptilia SLC12A7 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc12a7b 35
  • 74 (a)
OneToMany
slc12a7a 34 35
  • 68.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta kcc 35
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H16O14.1 36
  • 46 (a)
kcc-2 35
  • 44 (a)
OneToMany
R13A1.2 36
  • 41 (a)
K02A2.3 36
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2084 35
  • 53 (a)
OneToMany
Species where no ortholog for SLC12A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC12A7 Gene

ENSEMBL:
Gene Tree for SLC12A7 (if available)
TreeFam:
Gene Tree for SLC12A7 (if available)

Paralogs for SLC12A7 Gene

Paralogs for SLC12A7 Gene

(4) SIMAP similar genes for SLC12A7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC12A7: view

Variants for SLC12A7 Gene

Sequence variations from dbSNP and Humsavar for SLC12A7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000015587 -- 1,109,526(+) GACGC(C/T)TCCCG intron-variant, upstream-variant-2KB
rs1000041260 -- 1,054,436(+) TACCC(C/G)ACGGT intron-variant
rs1000057494 -- 1,083,303(+) GGCTT(C/T)CCGTC intron-variant
rs1000065022 -- 1,139,443(+) AGATG(C/T)GGTTC intron-variant
rs1000072327 -- 1,054,578(+) CGGAG(C/T)GGGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A7 Gene

Variant ID Type Subtype PubMed ID
dgv1065e214 CNV loss 21293372
dgv686n27 CNV loss 19166990
dgv912e201 CNV deletion 23290073
dgv913e201 CNV deletion 23290073
dgv9521n54 CNV loss 21841781
dgv9522n54 CNV loss 21841781
dgv9523n54 CNV loss 21841781
dgv9524n54 CNV loss 21841781
dgv9525n54 CNV gain+loss 21841781
dgv9526n54 CNV gain+loss 21841781
esv1013230 CNV deletion 17803354
esv1017705 CNV deletion 17803354
esv1484370 CNV deletion 17803354
esv1595100 CNV insertion 17803354
esv2239100 CNV deletion 18987734
esv2658162 CNV deletion 23128226
esv2674154 CNV deletion 23128226
esv2729398 CNV deletion 23290073
esv2729399 CNV deletion 23290073
esv2729400 CNV deletion 23290073
esv2729401 CNV deletion 23290073
esv2729402 CNV deletion 23290073
esv2729403 CNV deletion 23290073
esv2729405 CNV deletion 23290073
esv2729408 CNV deletion 23290073
esv2729409 CNV deletion 23290073
esv2729410 CNV deletion 23290073
esv2729411 CNV deletion 23290073
esv2729412 CNV deletion 23290073
esv2729413 CNV deletion 23290073
esv2729414 CNV deletion 23290073
esv2729415 CNV deletion 23290073
esv2729416 CNV deletion 23290073
esv2729418 CNV deletion 23290073
esv2729419 CNV deletion 23290073
esv2729420 CNV deletion 23290073
esv2729421 CNV deletion 23290073
esv2729422 CNV deletion 23290073
esv2740954 CNV deletion 23290073
esv2759316 CNV gain+loss 17122850
esv27870 CNV gain+loss 19812545
esv29930 CNV loss 19812545
esv3216 CNV loss 18987735
esv3295495 CNV deletion 24192839
esv3334365 CNV duplication 20981092
esv3360184 CNV duplication 20981092
esv3565330 CNV deletion 23714750
esv3565331 CNV deletion 23714750
esv3575810 CNV gain 25503493
esv3603792 CNV gain 21293372
esv3603795 CNV gain 21293372
esv3603797 CNV gain 21293372
esv3603798 CNV loss 21293372
esv3894109 CNV gain 25118596
esv7694 CNV loss 19470904
esv987527 CNV deletion 20482838
nsv10654 CNV gain+loss 18304495
nsv1073840 CNV deletion 25765185
nsv1074795 CNV deletion 25765185
nsv1121637 CNV deletion 24896259
nsv1129254 CNV insertion 24896259
nsv1133013 OTHER inversion 24896259
nsv1147234 OTHER inversion 26484159
nsv1147881 CNV deletion 26484159
nsv327933 CNV deletion 16902084
nsv328577 CNV deletion 16902084
nsv329413 CNV deletion 16902084
nsv329780 CNV insertion 16902084
nsv428459 CNV gain+loss 18775914
nsv461896 CNV loss 19166990
nsv461900 CNV loss 19166990
nsv469577 CNV loss 16826518
nsv470984 CNV loss 18288195
nsv470985 CNV gain 18288195
nsv477909 CNV novel sequence insertion 20440878
nsv513209 CNV loss 21212237
nsv513210 CNV loss 21212237
nsv527182 CNV loss 19592680
nsv596629 CNV gain 21841781
nsv596788 CNV loss 21841781
nsv596805 CNV loss 21841781
nsv596806 CNV loss 21841781
nsv596814 CNV loss 21841781
nsv596815 CNV gain 21841781
nsv596817 CNV loss 21841781
nsv596821 CNV loss 21841781
nsv820935 CNV deletion 20802225
nsv822953 CNV gain 20364138
nsv950627 CNV deletion 24416366

Variation tolerance for SLC12A7 Gene

Residual Variation Intolerance Score: 2.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC12A7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC12A7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A7 Gene

Disorders for SLC12A7 Gene

Relevant External Links for SLC12A7

Genetic Association Database (GAD)
SLC12A7
Human Genome Epidemiology (HuGE) Navigator
SLC12A7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC12A7

No disorders were found for SLC12A7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC12A7 Gene

Publications for SLC12A7 Gene

  1. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. (PMID: 10347194) Mount D.B. … Gamba G. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. Functional comparison of the K+-Cl- cotransporters KCC1 and KCC4. (PMID: 10913127) Mercado A. … Gamba G. (J. Biol. Chem. 2000) 3 4 22 64
  3. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PMID: 21613606) Cruz-Rangel S. … Mercado A. (Am. J. Physiol. 2011) 3 4 64
  4. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y. … Kamatani N. (Nat. Genet. 2010) 3 46 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for SLC12A7 Gene

Sources for SLC12A7 Gene

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