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Aliases for SLC12A2 Gene

Aliases for SLC12A2 Gene

  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2 2 3
  • Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 1 2 3 4
  • Basolateral Na-K-Cl Symporter 2 3 4
  • NKCC1 3 4 6
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 2 3
  • Protein Phosphatase 1, Regulatory Subunit 141 3
  • Solute Carrier Family 12 Member 2 3
  • Regulatory Subunit 141 2
  • Protein Phosphatase 1 2
  • PPP1R141 3
  • BSC2 3
  • BSC 3

External Ids for SLC12A2 Gene

Previous GeneCards Identifiers for SLC12A2 Gene

  • GC05P126959
  • GC05P127855
  • GC05P127450
  • GC05P127495
  • GC05P127447
  • GC05P127419
  • GC05P122610

Summaries for SLC12A2 Gene

Entrez Gene Summary for SLC12A2 Gene

  • The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for SLC12A2 Gene

SLC12A2 (Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC12A2 include arachnoid cysts and bartter disease. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A3.

UniProtKB/Swiss-Prot for SLC12A2 Gene

  • Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume

Tocris Summary for SLC12A2 Gene

  • NKCC cotransporters are membrane-bound channels that play a prominent role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation. There are two NKCC isoforms; NKCC1 and NKCC2. NKCC1 is found on almost all cells types and, importantly, is located on the basolateral membrane of secretory epithelia. In contrast NKCC2 is found exclusively in the kidney, specifically on the apical membrane of absorptive epithelia. The NKCC is distinguished from all other transporters by the fact that it transports Na+, K+ and Cl- stoichiometrically by means of a tightly coupled mechanism that can be blocked by loop diuretics. The NKCC is electrically silent (i.e. not driven by a membrane voltage, nor does it establish one) and requires all three ions to be simultaneously present on the same side of the plasma membrane. This is achieved by an allosteric effect where binding of one ion increases the apparent affinity of the binding site for the other ions. NH4+ may substitute for K+ (especially at NKCC2), which has an important role in NH4+ recycling and excretion of excess acid in the kidney. The NKCC involves a secondary active transport process, despite its requirement for cellular ATPase. It is activated by phosphorylation, which is mediated by PKC and PKA. CK2 binding sites are also present on the NKCC, but the significance is unknown. Protein phosphatases act to reduce NKCC activity by dephosphorylating the transporter. Furthermore, the intracellular concentration of ions, including Cl-, Na+, K+, Mg2+, Ca2+ and H+, has an effect on NKCC activity. There is also evidence that depolymerization of the actin cytoskeleton is associated with NKCC activation.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A2 Gene

Genomics for SLC12A2 Gene

Regulatory Elements for SLC12A2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC12A2 Gene

128,083,766 bp from pter
128,189,688 bp from pter
105,923 bases
Plus strand

Genomic View for SLC12A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC12A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A2 Gene

Proteins for SLC12A2 Gene

  • Protein details for SLC12A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Solute carrier family 12 member 2
    Protein Accession:
    Secondary Accessions:
    • Q8N713
    • Q8WWH7

    Protein attributes for SLC12A2 Gene

    1212 amino acids
    Molecular mass:
    131447 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC12A2 Gene


neXtProt entry for SLC12A2 Gene

Proteomics data for SLC12A2 Gene at MOPED

Post-translational modifications for SLC12A2 Gene

  • Ubiquitination at Lys237 and Lys1007
  • Glycosylation at Asn553 and Asn562
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC12A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SLC12A2 (NKCC1/SLC12A2)

No data available for DME Specific Peptides for SLC12A2 Gene

Domains for SLC12A2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SLC12A transporter family.
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A2: view

Function for SLC12A2 Gene

Molecular function for SLC12A2 Gene

GENATLAS Biochemistry:
solute carrier family 12 (sodium/potassium/chloride transport),member 2,170kDa,expressed in the basolateral membrane of secretory epithelia,muscle cells,neurons and red blood cells maybe involved in endolymph secretion
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK3.
UniProtKB/Swiss-Prot Function:
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume

Gene Ontology (GO) - Molecular Function for SLC12A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17721439
GO:0008511 sodium:potassium:chloride symporter activity IEA --
GO:0008519 ammonium transmembrane transporter activity IDA 12946942
GO:0015377 cation:chloride symporter activity --
genes like me logo Genes that share ontologies with SLC12A2: view
genes like me logo Genes that share phenotypes with SLC12A2: view

Animal Models for SLC12A2 Gene

MGI Knock Outs for SLC12A2:

Animal Model Products

CRISPR Products

miRNA for SLC12A2 Gene

miRTarBase miRNAs that target SLC12A2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC12A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC12A2 Gene

Localization for SLC12A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for SLC12A2 Gene COMPARTMENTS Subcellular localization image for SLC12A2 gene
Compartment Confidence
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC12A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7629105
GO:0016020 membrane TAS 7629105
GO:0016021 integral component of membrane --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC12A2: view

Pathways for SLC12A2 Gene

genes like me logo Genes that share pathways with SLC12A2: view

Gene Ontology (GO) - Biological Process for SLC12A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7629105
GO:0006811 ion transport TAS --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006821 chloride transport --
genes like me logo Genes that share ontologies with SLC12A2: view

Drugs for SLC12A2 Gene

(3) Drugbank Compounds for SLC12A2 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Potassium Chloride
  • [KCl]
7447-40-7 4873 Target, Transporter substrate approved, withdrawn
  • 3-(Aminosulfonyl)-5-(butylamino)-4-phenoxybenzoic acid
28395-03-1 2471 Target inhibitor approved
  • Chinetazone
73-49-4 6307 Target inhibitor approved

(2) Tocris Compounds for SLC12A2 Gene

Compound Action Cas Number
Bumetanide Na+/2Cl-/K+ (NKCC) cotransporter inhibitor [28395-03-1]
Furosemide Na+/2Cl-/K+ (NKCC) cotransporter inhibitor. Also antagonizes GABAA [54-31-9]

(2) ApexBio Compounds for SLC12A2 Gene

Compound Action Cas Number
Bumetanide NKCC cotransporter inhibitor [28395-03-1]
Furosemide GABAA receptors antagonist [54-31-9]

(4) HMDB Compounds for SLC12A2 Gene

Compound Synonyms Cas Number PubMed IDs
  • Bumetanida [INN-Spanish]
Chloride ion
  • Bertholite
  • Chinetazone [dcit]
  • Sodium

(3) IUPHAR Ligand for SLC12A2 Gene

Ligand Type Action Affinity Pubmed IDs
bumetanide Inhibitor Inhibition
piretanide Inhibitor Inhibition
furosemide Inhibitor Inhibition

(18) Novoseek inferred chemical compound relationships for SLC12A2 Gene

Compound -log(P) Hits PubMed IDs
bumetanide 90.3 26
chloride 68.1 24
gaba 62.2 13
calyculin a 60.8 2
furosemide 54 3
genes like me logo Genes that share compounds with SLC12A2: view

Transcripts for SLC12A2 Gene

Unigene Clusters for SLC12A2 Gene

Solute carrier family 12 (sodium/potassium/chloride transporters), member 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC12A2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2: -

ExUns: 26a · 26b ^ 27a · 27b
SP2: -

Relevant External Links for SLC12A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC12A2 Gene

mRNA expression in normal human tissues for SLC12A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SLC12A2 Gene

This gene is overexpressed in Nasal epithelium (26.2), Oral epithelium (8.6), and Spinal cord (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC12A2 Gene

SOURCE GeneReport for Unigene cluster for SLC12A2 Gene Hs.162585

mRNA Expression by UniProt/SwissProt for SLC12A2 Gene

Tissue specificity: Expressed in many tissues
genes like me logo Genes that share expressions with SLC12A2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for SLC12A2 Gene

Orthologs for SLC12A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC12A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SLC12A2 35
  • 92.5 (n)
  • 95.28 (a)
SLC12A2 36
  • 96 (a)
(Canis familiaris)
Mammalia SLC12A2 35
  • 94.21 (n)
  • 97.75 (a)
SLC12A2 36
  • 98 (a)
(Mus musculus)
Mammalia Slc12a2 35
  • 89.32 (n)
  • 94.37 (a)
Slc12a2 16
Slc12a2 36
  • 94 (a)
(Pan troglodytes)
Mammalia SLC12A2 35
  • 99.27 (n)
  • 99.16 (a)
SLC12A2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Slc12a2 35
  • 88.43 (n)
  • 93.68 (a)
(Monodelphis domestica)
Mammalia SLC12A2 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 52 (a)
(Gallus gallus)
Aves SLC12A2 35
  • 81.29 (n)
  • 88.83 (a)
SLC12A2 36
  • 87 (a)
(Anolis carolinensis)
Reptilia SLC12A2 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a2 35
  • 74.98 (n)
  • 84.8 (a)
Str.1570 35
(Danio rerio)
Actinopterygii slc12a2 35
  • 69.16 (n)
  • 75.27 (a)
CABZ01084014.1 36
  • 80 (a)
slc12a2 36
  • 62 (a)
slc12a2 36
  • 76 (a)
SLC12A2 (4 of 4) 36
  • 70 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7810 35
fruit fly
(Drosophila melanogaster)
Insecta CG4357 37
  • 49 (a)
EG:8D8.3 37
  • 33 (a)
Ncc69 35
  • 55.24 (n)
  • 54.24 (a)
CG31547 36
  • 41 (a)
Ncc69 36
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001557 35
  • 52.91 (n)
  • 54.11 (a)
(Caenorhabditis elegans)
Secernentea B0303.11 37
  • 26 (a)
F10E7.9 37
  • 28 (a)
B0303.11 36
  • 27 (a)
nkcc-1 36
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 22 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4740 35
Species with no ortholog for SLC12A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC12A2 Gene

Gene Tree for SLC12A2 (if available)
Gene Tree for SLC12A2 (if available)

Paralogs for SLC12A2 Gene

Paralogs for SLC12A2 Gene

(4) SIMAP similar genes for SLC12A2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC12A2: view

Variants for SLC12A2 Gene

Sequence variations from dbSNP and Humsavar for SLC12A2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs10089 -- 128,186,851(+) CTTCT(C/T)TGTTG utr-variant-3-prime, nc-transcript-variant
rs29966 -- 128,180,503(+) GTGTG(G/T)CTGTG intron-variant
rs40816 -- 128,133,718(-) TTCCA(A/C)TCTGC intron-variant
rs185178 -- 128,172,273(-) atgaa(A/G)ggtac intron-variant
rs251217 -- 128,176,372(+) ACTGT(A/G)GTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A2 Gene

Variant ID Type Subtype PubMed ID
nsv4993 CNV Loss 18451855
nsv830482 CNV Gain 17160897
esv2672847 CNV Deletion 23128226

Relevant External Links for SLC12A2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A2 Gene

Disorders for SLC12A2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SLC12A2 Gene in MalaCards »

(3) Diseases for SLC12A2 Gene

(1) University of Copenhagen DISEASES for SLC12A2 Gene

(10) Novoseek inferred disease relationships for SLC12A2 Gene

Disease -log(P) Hits PubMed IDs
bartters syndrome 46.9 1
cystic fibrosis 41.4 5
epilepsy 25.4 3
cerebral ischemia 23.6 1
ischemia 16.8 14

Relevant External Links for SLC12A2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SLC12A2: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for SLC12A2 Gene

Publications for SLC12A2 Gene

  1. Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. (PMID: 7629105) Payne J.A. … Forbush B. III (J. Biol. Chem. 1995) 2 3 4
  2. Quantitation of Na(+)-K(+)-2Cl(-) cotransport splice variants in human tissues using kinetic polymerase chain reaction. (PMID: 11700976) Vibat C.R. … O'Donnell M.E. (Anal. Biochem. 2001) 3 4 23
  3. Growth factors stimulate the Na-K-2Cl cotransporter NKCC1 through a novel Cl(-)-dependent mechanism. (PMID: 11698253) Jiang G. … O'Neill W.C. (Am. J. Physiol., Cell Physiol. 2001) 23 25 26
  4. Induction of Na+/K+/2Cl- cotransporter expression mediates chronic potentiation of intestinal epithelial Cl- secretion by EGF. (PMID: 18400987) O'Mahony F. … Keely S.J. (Am. J. Physiol., Cell Physiol. 2008) 3 23
  5. Evidence for the presence of cGMP-dependent protein kinase-II in human distal colon and in T84, the colonic cell line. (PMID: 11042348) Selvaraj N.G. … Rao M.C. (Biochim. Biophys. Acta 2000) 3 23

Products for SLC12A2 Gene

Sources for SLC12A2 Gene

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