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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 Salivary secretion. 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.

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

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
GH05F127957 1 Ensembl ENCODE 7.6 -124.1 -124133 5.3 ELF3 SIN3A FEZF1 ZNF366 SCRT2 FOS CREM EGR2 ZNF362 HMG20B SLC12A2 LINC01184 CCDC192 LOC101929964 LOC105379166
GH05F127940 0.8 Ensembl ENCODE 7.2 -141.9 -141893 2.0 ATF3 SMARCA4 POLR2A NFE2 NR3C1 ZBTB20 NFE2L2 SLC12A2 SLC27A6 LOC101929964 LOC105379166
GH05F128197 0.2 ENCODE 6.1 +113.9 113862 1.2 ARID1B ATF1 TAL1 CREM LINC01184 SLC12A2 GC05P128186 GC05P128268
GH05F127812 0.6 Ensembl ENCODE 4.9 -270.0 -269955 2.4 JUND JUN SLC12A2 CUL1P1 LOC105379166
GH05F127934 0.9 Ensembl ENCODE 4.8 -147.9 -147902 2.3 PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF2 FOS SP5 ZHX2 REST SLC12A2 LOC101929964 LOC105379166
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001413718 634 6400 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF207

Genomic Location for SLC12A2 Gene

Chromosome:
5
Start:
128,083,766 bp from pter
End:
128,189,688 bp from pter
Size:
105,923 bases
Orientation:
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:
    P55011-S12A2_HUMAN
    Recommended name:
    Solute carrier family 12 member 2
    Protein Accession:
    P55011
    Secondary Accessions:
    • Q8N713
    • Q8WWH7

    Protein attributes for SLC12A2 Gene

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

    Alternative splice isoforms for SLC12A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A2 Gene

Post-translational modifications for SLC12A2 Gene

  • Ubiquitination at Lys 237 and Lys 1007
  • Glycosylation at Asn 562
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC12A2 Gene

Antibody Products

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

No data available for DME Specific Peptides for SLC12A2 Gene

Domains & Families for SLC12A2 Gene

Graphical View of Domain Structure for InterPro Entry

P55011

UniProtKB/Swiss-Prot:

S12A2_HUMAN :
  • Belongs to the SLC12A transporter family.
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 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for SLC12A2 Gene COMPARTMENTS Subcellular localization image for SLC12A2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
chloroplast 1
cytoskeleton 1
cytosol 1
mitochondrion 1
nucleus 1
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 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 IEA,TAS --
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, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bumetanide Approved Pharma Agonist, blocker, Target, inhibitor NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 16
Furosemide Approved, Vet_approved Pharma Agonist, blocker GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 188
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: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(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

Transcripts for SLC12A2 Gene

Unigene Clusters for SLC12A2 Gene

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

Inhibitory RNA Products

Clone Products

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: -
SP3:

ExUns: 26a · 26b ^ 27a · 27b
SP1:
SP2: -
SP3:

Relevant External Links for SLC12A2 Gene

GeneLoc Exon Structure for
SLC12A2
ECgene alternative splicing isoforms for
SLC12A2

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 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:

SLC12A2

SOURCE GeneReport for Unigene cluster for SLC12A2 Gene:

Hs.162585

mRNA Expression by UniProt/SwissProt for SLC12A2 Gene:

P55011-S12A2_HUMAN
Tissue specificity: Expressed in many tissues.
genes like me logo Genes that share expression patterns with SLC12A2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia SLC12A2 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia SLC12A2 34 35
  • 94.21 (n)
cow
(Bos Taurus)
Mammalia SLC12A2 34 35
  • 92.5 (n)
mouse
(Mus musculus)
Mammalia Slc12a2 34 16 35
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Slc12a2 34
  • 88.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC12A2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 52 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC12A2 34 35
  • 81.29 (n)
lizard
(Anolis carolinensis)
Reptilia SLC12A2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a2 34
  • 74.98 (n)
Str.1570 34
zebrafish
(Danio rerio)
Actinopterygii CABZ01084014.1 35
  • 80 (a)
OneToMany
SLC12A2 (4 of 4) 35
  • 70 (a)
OneToMany
slc12a2 34 35 35
  • 69.16 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7810 34
fruit fly
(Drosophila melanogaster)
Insecta Ncc69 34 35
  • 55.24 (n)
CG4357 36
  • 49 (a)
CG31547 35
  • 41 (a)
ManyToMany
EG:8D8.3 36
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001557 34
  • 52.91 (n)
worm
(Caenorhabditis elegans)
Secernentea nkcc-1 35
  • 40 (a)
ManyToMany
F10E7.9 36
  • 28 (a)
B0303.11 36 35
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4740 34
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

ENSEMBL:
Gene Tree for SLC12A2 (if available)
TreeFam:
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
rs10036170 -- 128,184,080(+) gacat(C/T)gtatt intron-variant
rs10039525 -- 128,118,028(+) ttact(C/T)ctgca intron-variant
rs10055977 -- 128,114,897(+) GTCTC(A/G)TAGCA intron-variant
rs10057122 -- 128,176,371(+) CACTG(C/T)AGTAT intron-variant
rs10059867 -- 128,180,260(+) ccacc(A/G)cgccc intron-variant

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

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

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)
SLC12A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC12A2

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: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
basosquamous carcinoma
  • basisquamous cell carcinoma
metatypical basal cell carcinoma
  • basosquamous carcinoma of skin
hypothalamic hamartomas
  • hamartoma of the hypothalamus
baylisascariasis
  • infection by baylisascaris
arachnoid cysts
  • arachnoid cysts, intracranial
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC12A2

Genetic Association Database (GAD)
SLC12A2
Human Genome Epidemiology (HuGE) Navigator
SLC12A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC12A2
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 C.R. … O'Donnell M.E. (Anal. Biochem. 2001) 3 4 22 64
  2. 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 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. 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 K.M. … Hoh J. (Endocr. Relat. Cancer 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for SLC12A2 Gene

Sources for SLC12A2 Gene

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