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Aliases for SLC12A2 Gene

Aliases for SLC12A2 Gene

  • Solute Carrier Family 12 Member 2 2 3 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for SLC12A2 Gene

Promoters and enhancers for SLC12A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J128081 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.1 -87 5 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF143 LINC01184 SLC12A2 PRRC1 CCDC192 GC05M128064
GH05J127957 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.6 -124.1 -124133 5.3 ELF3 FOXA2 NFIB ZSCAN4 SIN3A FEZF1 ZNF366 ZSCAN5C SCRT2 RCOR1 SLC12A2 LINC01184 CCDC192 LOC101929964 ENSG00000250603
GH05J127934 Enhancer 1.4 Ensembl ENCODE dbSUPER 4.8 -147.9 -147902 2.3 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZNF213 FOS SLC12A2 LOC101929964 ENSG00000250603 CCDC192
GH05J127940 Enhancer 0.8 Ensembl ENCODE dbSUPER 7.2 -142.3 -142322 1.2 ATF4 POLR2A CEBPG SLC12A2 SLC27A6 LOC101929964 ENSG00000250603 LINC01184 CCDC192
GH05J127857 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.4 -225.4 -225441 1 JUN FEZF1 ZNF335 ZSCAN5C PRDM10 ZBTB20 SP3 ZNF501 ATF2 ZNF843 ENSG00000250603 SLC12A2 LOC101929964 CCDC192
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC12A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC12A2 gene promoter:
  • STAT5A
  • GR-alpha
  • GR
  • LyF-1
  • E47
  • NF-1/L
  • NF-1
  • AREB6
  • MEF-2A
  • MEF-2

Genomic Locations for SLC12A2 Gene

Genomic Locations for SLC12A2 Gene
chr5:128,083,766-128,189,688
(GRCh38/hg38)
Size:
105,923 bases
Orientation:
Plus strand
chr5:127,419,458-127,525,380
(GRCh37/hg19)
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

  • Glycosylation at isoforms=3562
  • Ubiquitination at isoforms=31007 and posLast=237237
  • 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

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

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

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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK3.
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

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:0005524 ATP binding IEA --
GO:0008511 sodium:potassium:chloride symporter activity TAS --
GO:0008519 ammonium transmembrane transporter activity IDA 12946942
GO:0015081 sodium ion transmembrane transporter activity IBA --
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

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 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:0006811 ion transport TAS,IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006884 cell volume homeostasis IBA --
genes like me logo Genes that share ontologies with SLC12A2: view

Drugs & Compounds for SLC12A2 Gene

(16) 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, Inhibition, Inhibitor, blocker, Target, inhibitor NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 19
Furosemide Approved, Vet_approved Pharma Agonist, Inhibition, Inhibitor, blocker GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 209
Quinethazone Approved Pharma Target, inhibitor 0
piretanide Approved Pharma Inhibition, Inhibitor 0
Potassium bicarbonate Approved Pharma Transporter, substrate 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
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
genes like me logo Genes that share compounds with SLC12A2: view

Transcripts for SLC12A2 Gene

mRNA/cDNA 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: -
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 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, 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.

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
chimpanzee
(Pan troglodytes)
Mammalia SLC12A2 34 33
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A2 34 33
  • 94.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC12A2 34 33
  • 92.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a2 16 34 33
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Slc12a2 33
  • 88.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC12A2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 52 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC12A2 34 33
  • 81.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC12A2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a2 33
  • 74.98 (n)
Str.1570 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01084014.1 34
  • 80 (a)
OneToMany
SLC12A2 (4 of 4) 34
  • 70 (a)
OneToMany
slc12a2 34 34 33
  • 69.16 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7810 33
fruit fly
(Drosophila melanogaster)
Insecta Ncc69 34 33
  • 55.24 (n)
ManyToMany
CG4357 35
  • 49 (a)
CG31547 34
  • 41 (a)
ManyToMany
EG:8D8.3 35
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001557 33
  • 52.91 (n)
worm
(Caenorhabditis elegans)
Secernentea nkcc-1 34
  • 40 (a)
ManyToMany
F10E7.9 35
  • 28 (a)
B0303.11 34 35
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.4740 33
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

ENSEMBL:
Gene Tree for SLC12A2 (if available)
TreeFam:
Gene Tree for SLC12A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC12A2: view image

Paralogs for SLC12A2 Gene

Paralogs for SLC12A2 Gene

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

  • S12A2_HUMAN
  • B7ZM24_HUMAN
  • G3XAL9_HUMAN
  • Q53ZR1_HUMAN
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 Variation AA Info Type
rs886040968 likely-pathogenic, Infant onset multiple organ failure 128,178,664(+) TGTCTGGTGGCT/T coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000010066 -- 128,139,045(+) A/T intron_variant
rs1000032081 -- 128,166,693(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000076609 -- 128,140,355(+) A/T intron_variant
rs1000083888 -- 128,166,463(+) TGTGTGTGTGTGTGTGTGTTTGTGTGTGTGT/TGTGTGTGTGT genic_downstream_transcript_variant, 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)

Additional Variant Information 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

(8) 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
baylisascariasis
  • infection by baylisascaris
arachnoid cysts
  • arachnoid cysts, intracranial
hypothalamic hamartomas
  • hypothalamic hamartomas, somatic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC12A2

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 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 58
  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 58
  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 58
  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 KM … Hoh J (Endocrine-related cancer 2011) 3 44 58
  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 44 58

Products for SLC12A2 Gene

Sources for SLC12A2 Gene

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