Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC12A2 Gene

Aliases for SLC12A2 Gene

  • Solute Carrier Family 12 Member 2 2 3 5
  • Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 1 2 3 4
  • Basolateral Na-K-Cl Symporter 2 3 4
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2 2 3
  • Protein Phosphatase 1, Regulatory Subunit 141 2 3
  • NKCC1 3 4
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 2 3
  • 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 Member 2) is a Protein Coding gene. Diseases associated with SLC12A2 include Basosquamous Carcinoma and Metatypical Basal Cell Carcinoma. 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 cation:chloride symporter activity and sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A1.

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

  • Na+/K+/Cl- Symporters (NKCC) are membrane-bound channels that play a major role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation and possibly in cell cycle regulation. There are two NKCC isoforms: NKCC1 and NKCC2.

Additional gene information for SLC12A2 Gene

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

Genomics for SLC12A2 Gene

Regulatory Elements for SLC12A2 Gene

Enhancers for SLC12A2 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
GH05H127957 1.4 Ensembl ENCODE dbSUPER 7.6 -124.1 -124133 5.3 ELF3 FOXA2 NFIB ZSCAN4 FEZF1 ZNF366 ZSCAN5C SCRT2 FOS RCOR1 SLC12A2 LINC01184 CCDC192 LOC101929964 ENSG00000250603
GH05H127934 1.5 Ensembl ENCODE dbSUPER 4.8 -147.9 -147902 2.3 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF2 FOS ATF7 RUNX3 SLC12A2 LOC101929964 ENSG00000250603
GH05H127940 0.9 Ensembl ENCODE dbSUPER 7.2 -142.3 -142322 1.2 POLR2A CEBPG SLC12A2 SLC27A6 LOC101929964 ENSG00000250603
GH05H127857 1.2 Ensembl ENCODE dbSUPER 4.4 -225.4 -225441 1 JUN FEZF1 ZSCAN5C PRDM10 ZBTB20 SP3 ZNF501 ATF2 ZNF843 ZFP69B SLC12A2 ENSG00000250603 LOC101929964
GH05H128038 1.1 Ensembl ENCODE 4.5 -44.7 -44657 1.9 HDAC1 ATF1 TBL1XR1 ARNT CHAMP1 RFX5 TCF12 GATA2 ELK1 SIRT6 SLC12A2 LOC101929964 LINC01184
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC12A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC12A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186556 134 4601 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF207 SP3

Genomic Locations for SLC12A2 Gene

Genomic Locations for SLC12A2 Gene
105,923 bases
Plus strand

Genomic View for SLC12A2 Gene

Genes around SLC12A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SLC12A2 Gene

  • Ubiquitination at isoforms=3237 and Lys1007
  • Glycosylation at Asn562
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC12A2 Gene

No data available for DME Specific Peptides for SLC12A2 Gene

Domains & Families for SLC12A2 Gene

Gene Families for SLC12A2 Gene

Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for SLC12A2 Gene

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 TAS --
GO:0008519 ammonium transmembrane transporter activity IDA 12946942
GO:0015293 symporter activity IEA --
GO:0015377 cation:chloride symporter activity IEA --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 SLC12A2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

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 IEA,TAS 7629105
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IBA --
genes like me logo Genes that share ontologies with SLC12A2: view

Pathways & Interactions for SLC12A2 Gene

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

SIGNOR curated interactions for SLC12A2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC12A2 Gene

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

Drugs & Compounds for SLC12A2 Gene

(15) Drugs for SLC12A2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bumetanide Approved Pharma Agonist, blocker, Target, inhibitor NKCC cotransporter inhibitor 17
Furosemide Approved, Vet_approved Pharma Agonist, blocker GABAA receptors antagonist 201
Quinethazone Approved Pharma Target, inhibitor 0
Potassium Chloride Approved, Withdrawn Pharma Target, Transporter, substrate 0
piretanide Experimental Pharma Inhibition, Inhibitor 0

(7) Additional Compounds for SLC12A2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Sodium
  • Sodium ion
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride

(2) Tocris Compounds for SLC12A2 Gene

Compound Action Cas Number
Bumetanide Na+/2Cl-/K+ (NKCC) symporter inhibitor 28395-03-1
Furosemide Na+/2Cl-/K+ (NKCC) symporter 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
genes like me logo Genes that share compounds with SLC12A2: view

Drug Products

Transcripts for SLC12A2 Gene

Unigene Clusters for SLC12A2 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC12A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC12A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC12A2 Gene:


SOURCE GeneReport for Unigene cluster for SLC12A2 Gene:


mRNA Expression by UniProt/SwissProt for SLC12A2 Gene:

Tissue specificity: Expressed in many tissues.

Evidence on tissue expression from TISSUES for SLC12A2 Gene

  • Intestine(4.7)
  • Eye(4.4)
  • Nervous system(3.3)
  • Kidney(2.7)
  • Stomach(2.5)
  • Lung(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SLC12A2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SLC12A2 33 34
  • 99.27 (n)
(Canis familiaris)
Mammalia SLC12A2 33 34
  • 94.21 (n)
(Bos Taurus)
Mammalia SLC12A2 33 34
  • 92.5 (n)
(Mus musculus)
Mammalia Slc12a2 33 16 34
  • 89.32 (n)
(Rattus norvegicus)
Mammalia Slc12a2 33
  • 88.43 (n)
(Monodelphis domestica)
Mammalia SLC12A2 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 52 (a)
(Gallus gallus)
Aves SLC12A2 33 34
  • 81.29 (n)
(Anolis carolinensis)
Reptilia SLC12A2 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a2 33
  • 74.98 (n)
Str.1570 33
(Danio rerio)
Actinopterygii CABZ01084014.1 34
  • 80 (a)
SLC12A2 (4 of 4) 34
  • 70 (a)
slc12a2 33 34 34
  • 69.16 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7810 33
fruit fly
(Drosophila melanogaster)
Insecta Ncc69 33 34
  • 55.24 (n)
CG4357 35
  • 49 (a)
CG31547 34
  • 41 (a)
EG:8D8.3 35
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001557 33
  • 52.91 (n)
(Caenorhabditis elegans)
Secernentea nkcc-1 34
  • 40 (a)
F10E7.9 35
  • 28 (a)
B0303.11 35 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 22 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4740 33
Species where no ortholog for SLC12A2 was found in the sources mined by GeneCards:
  • 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
rs886040968 Likely pathogenic 128,178,665(+) TTGAT(-/GTCTGGTGGCT)TTTTG nc-transcript-variant, reference, frameshift-variant
rs1000010066 -- 128,139,045(+) ATTAT(A/T)ATTCA intron-variant
rs1000032081 -- 128,166,693(+) GAATT(C/T)CTGTT intron-variant
rs1000076609 -- 128,140,355(+) ACACA(A/T)ATCTC intron-variant
rs1000083888 -- 128,166,463(+) AAATG(-/TGTGTGTGTGTGTGTGTGTT)TGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830482 CNV gain 17160897
nsv4993 CNV deletion 18451855
esv2672847 CNV deletion 23128226

Variation tolerance for SLC12A2 Gene

Residual Variation Intolerance Score: 3.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC12A2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SLC12A2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC12A2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
basosquamous carcinoma
  • basisquamous cell carcinoma
metatypical basal cell carcinoma
  • basosquamous carcinoma of skin
  • infection by baylisascaris
arachnoid cysts
  • arachnoid cysts, intracranial
bartter disease
  • aldosteronism with hyperplasia of the adrenal cortex
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC12A2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC12A2: view

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

Publications for SLC12A2 Gene

  1. Quantitation of Na+-K+-2Cl- cotransport splice variants in human tissues using kinetic polymerase chain reaction. (PMID: 11700976) Vibat CR … O'Donnell ME (Analytical biochemistry 2001) 3 4 22 60
  2. Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. (PMID: 7629105) Payne JA … Forbush B (The Journal of biological chemistry 1995) 2 3 4 60
  3. A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. (PMID: 21139019) Walsh KM … Hoh J (Endocrine-related cancer 2011) 3 45 60
  4. 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 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for SLC12A2 Gene

Sources for SLC12A2 Gene

Loading form....