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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
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 2 3
  • Protein Phosphatase 1, Regulatory Subunit 141 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 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 Neuroscience. GO annotations related to this gene include cation:chloride symporter activity and 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

  • 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

Epigenetics Products

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

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

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:
    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

Proteomics data for SLC12A2 Gene at MOPED

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 7629105
GO:0008519 ammonium transmembrane transporter activity IDA 12946942
GO:0015081 sodium ion transmembrane transporter activity IBA --
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 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

COMPARTMENTS
Jensen Localization Image for SLC12A2 Gene COMPARTMENTS Subcellular localization image for SLC12A2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
chloroplast 1
cytoskeleton 1
cytosol 1
mitochondrion 1
nucleus 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 & 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 TAS 7629105
GO:0006811 ion transport TAS --
GO:0006884 cell volume homeostasis IBA --
GO:0010107 potassium ion import IBA --
GO:0015696 ammonium transport IDA 12946942
genes like me logo Genes that share ontologies with SLC12A2: view

Drugs & Compounds for SLC12A2 Gene

(13) Drugs for SLC12A2 Gene - From: NovoSeek, DrugBank, IUPHAR, ApexBio, DGIdb, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bumetanide Approved Pharma Inhibition, Inhibitor, blocker, Target, inhibitor NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) cotransporter inhibitor 13
Furosemide Approved Pharma Inhibition, Inhibitor, blocker GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) cotransporter inhibitor. Also antagonizes GABAA 158
Quinethazone Approved Pharma Target, inhibitor 0
Potassium Chloride Approved, Withdrawn Pharma Target, Transporter, substrate 0
Carbachol Approved Pharma Full agonist, Agonist 3

(9) 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
12-O-Tetradecanoylphorbol 13-acetate
chloride
Cytochalasin D
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: -
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, MOPED, and MaxQB for SLC12A2 Gene



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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SLC12A2 35
  • 92.5 (n)
  • 95.28 (a)
SLC12A2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A2 35
  • 94.21 (n)
  • 97.75 (a)
SLC12A2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a2 35
  • 89.32 (n)
  • 94.37 (a)
Slc12a2 16
Slc12a2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC12A2 35
  • 99.27 (n)
  • 99.16 (a)
SLC12A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a2 35
  • 88.43 (n)
  • 93.68 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC12A2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 52 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC12A2 35
  • 81.29 (n)
  • 88.83 (a)
SLC12A2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC12A2 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a2 35
  • 74.98 (n)
  • 84.8 (a)
Str.1570 35
zebrafish
(Danio rerio)
Actinopterygii slc12a2 35
  • 69.16 (n)
  • 75.27 (a)
CABZ01084014.1 36
  • 80 (a)
OneToMany
slc12a2 36
  • 62 (a)
OneToMany
slc12a2 36
  • 76 (a)
OneToMany
SLC12A2 (4 of 4) 36
  • 70 (a)
OneToMany
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)
ManyToMany
Ncc69 36
  • 45 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001557 35
  • 52.91 (n)
  • 54.11 (a)
worm
(Caenorhabditis elegans)
Secernentea B0303.11 37
  • 26 (a)
F10E7.9 37
  • 28 (a)
B0303.11 36
  • 27 (a)
ManyToMany
nkcc-1 36
  • 40 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 22 (a)
OneToMany
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

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

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

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

HapMap Linkage Disequilibrium report
SLC12A2
Human Gene Mutation Database (HGMD)
SLC12A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for SLC12A2 Gene

Disorders for SLC12A2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC12A2 Gene - From: DISEASES, NovoSeek, and GeneCards

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

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. 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 67
  2. Bartter syndrome. (PMID: 12920401) Hebert S.C. (Curr. Opin. Nephrol. Hypertens. 2003) 23 25 67
  3. Heterologous regulation of anion transporters by menthol in human airway epithelial cells. (PMID: 20362570) Morise M. … Hasegawa Y. (Eur. J. Pharmacol. 2010) 23 67
  4. The Na-K-Cl Co-transporter in astrocyte swelling. (PMID: 20336356) Jayakumar A.R. … Norenberg M.D. (Metab Brain Dis 2010) 23 67
  5. Loss of cation-chloride cotransporter expression in preterm infants with white matter lesions: implications for the pathogenesis of epilepsy. (PMID: 20467335) Robinson S. … Goyal M. (J. Neuropathol. Exp. Neurol. 2010) 23 67

Products for SLC12A2 Gene

Sources for SLC12A2 Gene

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