Aliases for SLC12A7 Gene

Aliases for SLC12A7 Gene

  • Solute Carrier Family 12 Member 7 2 3 4 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
  • SUCO/SLC12A7 Fusion 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. Diseases associated with SLC12A7 include Agenesis Of The Corpus Callosum With Peripheral Neuropathy and Renal Tubular Acidosis. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary 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

Additional gene information for SLC12A7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC12A7 Gene

Genomics for SLC12A7 Gene

GeneHancer (GH) Regulatory Elements for SLC12A7 Gene

Promoters and enhancers for SLC12A7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC12A7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC12A7

Top Transcription factor binding sites by QIAGEN in the SLC12A7 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • Cart-1
  • Gfi-1
  • HNF-4alpha1
  • NF-E2
  • NF-E2 p45

Genomic Locations for SLC12A7 Gene

Genomic Locations for SLC12A7 Gene
chr5:1,050,374-1,155,747
(GRCh38/hg38)
Size:
105,374 bases
Orientation:
Minus strand
chr5:1,050,489-1,112,172
(GRCh37/hg19)
Size:
61,684 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

  • Glycosylation at Asn312 and Asn360
  • Ubiquitination at Lys937, Lys943, Lys976, Lys1002, and Lys1008
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • S12A7_HUMAN (1763)

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

Blocks:
  • K-Cl co-transporter signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC12A7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59172, highly similar to Solute carrier family 12 member 7 (B4DZD0_HUMAN)
  • K-Cl cotransporter 4 (S12A7_HUMAN)

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

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).
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.
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

Phenotypes From GWAS Catalog for SLC12A7 Gene

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 IEA,IBA 21873635
GO:0019901 protein kinase binding IPI 24393035
GO:0022857 transmembrane transporter activity IEA --
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

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
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC12A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
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:0006811 ion transport IEA,TAS --
GO:0006813 potassium ion transport IEA --
GO:0006884 cell volume homeostasis IBA,IEA 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0055064 chloride ion homeostasis IBA 21873635
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

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

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

(2) Additional Compounds for SLC12A7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC12A7: view

Transcripts for SLC12A7 Gene

mRNA/cDNA for SLC12A7 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for SLC12A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC12A7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 96.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A7 31 30
  • 86.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a7 30
  • 85.29 (n)
mouse
(Mus musculus)
Mammalia Slc12a7 17 31 30
  • 84.64 (n)
cow
(Bos Taurus)
Mammalia SLC12A7 31 30
  • 84.05 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A7 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A7 31 30
  • 70.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC12A7 31
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc12a7b 31
  • 74 (a)
OneToMany
slc12a7a 31 30
  • 68.49 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta kcc 31
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H16O14.1 32
  • 46 (a)
kcc-2 31
  • 44 (a)
OneToMany
R13A1.2 32
  • 41 (a)
K02A2.3 32
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2084 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC12A7: view image

Paralogs for SLC12A7 Gene

Paralogs for SLC12A7 Gene

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

  • S12A7_HUMAN
  • H0YB78_HUMAN
  • L8E7W0_HUMAN
genes like me logo Genes that share paralogs with SLC12A7: view

Variants for SLC12A7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC12A7 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs4526148 - p.Ala408Thr

Additional dbSNP identifiers (rs#s) for SLC12A7 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(3) MalaCards diseases for SLC12A7 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC12A7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC12A7: view

No data available for 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 DB … Gamba G (The Journal of biological chemistry 1999) 2 3 4 23 54
  2. Functional comparison of the K+-Cl- cotransporters KCC1 and KCC4. (PMID: 10913127) Mercado A … Gamba G (The Journal of biological chemistry 2000) 3 4 23 54
  3. Similar effects of all WNK3 variants on SLC12 cotransporters. (PMID: 21613606) Cruz-Rangel S … Mercado A (American journal of physiology. Cell physiology 2011) 3 4 54
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  5. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 41 54

Products for SLC12A7 Gene

Sources for SLC12A7 Gene