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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC12A2 Gene

protein-coding   GIFtS: 66
GCID: GC05P127419

solute carrier family 12 (sodium/potassium/chloride transporters),...
 Explore 38 diseases affiliated with
SLC12A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC12A2    

Aliases
for SLC12A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member
21 2
     Basolateral Na-K-Cl Symporter2 3
NKCC11 2 3 5     Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 12 3
BSC1 2     Solute Carrier Family 12 Member 22
BSC21 2     

External Ids:    HGNC: 109111   Entrez Gene: 65582   Ensembl: ENSG000000646517   OMIM: 6008405   UniProtKB: P550113   

Export aliases for SLC12A2 gene to outside databases

Previous GC identifers: GC05P126959 GC05P127855 GC05P127450 GC05P127495 GC05P127447 GC05P122610


Summaries
for SLC12A2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC12A2:
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)

UniProtKB/Swiss-Prot: S12A2_HUMAN, P55011
Function: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the
regulation of ionic balance and cell volume

summary for SLC12A2:
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.




Genomic Views
for SLC12A2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC12A2 gene promoter:
         GR   NF-1   NF-1/L   MEF-2   STAT5A   E47   MEF-2A   AREB6   GR-alpha   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC12A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC12A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.3   Ensembl cytogenetic band:  5q23.3   HGNC cytogenetic band: 5q23.3

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P127419:  view genomic region     (about GC identifiers)

Start:
 127,419,458 bp from pter      End:
 127,525,380 bp from pter
Size:
 105,923 bases      Orientation:
 plus strand

Proteins
for SLC12A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S12A2_HUMAN, P55011 (See protein sequence)
Recommended Name: Solute carrier family 12 member 2  
Size: 1212 amino acids; 131447 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q8N713 Q8WWH7
Alternative splicing: 2 isoforms:  P55011-1   P55011-3   

Explore the universe of human proteins at neXtProt for SLC12A2: NX_P55011

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55011

    • SLC12A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001037.1  NP_001243390.1  

    ENSEMBL proteins: 
     ENSP00000262461   ENSP00000427109   ENSP00000340878  
    Reactome Protein details: P55011
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SLC12A2
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    Novus Biologicals SLC12A2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC12A2

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7629105
    GO:0016020membrane TAS7629105
    GO:0016021integral to membrane ----


    SLC12A2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC12A2

    Protein Domains /
    Families
    for SLC12A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC12A2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR002443 Na/K/Cl_cotranspt
     IPR004841 AA-permease_dom
     IPR002444 Na/K/Cl_cotranspt1
     IPR004842 Na/K/Cl_cotransptS
     IPR013612 AA_permease_N

    Graphical View of Domain Structure for InterPro Entry P55011

    ProtoNet protein and cluster: P55011

    3 Blocks protein families:
    IPB002443 Na-K-Cl co-transporter family signature
    IPB002444 Na-K-Cl co-transporter 1 signature
    IPB013612 Amino acid permease N-terminal


    UniProtKB/Swiss-Prot: S12A2_HUMAN, P55011
    Similarity: Belongs to the SLC12A transporter family


    Function
    for SLC12A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: S12A2_HUMAN, P55011
    Function: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the
    regulation of ionic balance and cell volume
    Enzyme regulation: Activated by WNK3

         Genatlas biochemistry entry for SLC12A2:
    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

    miRNA
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    hsa-mir-16 (MIRT001417)

    OriGene 3'-UTR Clone: SLC12A2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC12A2
    8/103 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC12A2 (see all 103):
    hsa-miR-411* hsa-miR-607 hsa-miR-188-5p hsa-miR-15a hsa-miR-4272 hsa-miR-218-1* hsa-miR-489 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: SLC12A2
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for SLC12A2

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A2

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008511sodium:potassium:chloride symporter activity TAS7629105
    GO:0015377cation:chloride symporter activity ----
    GO:0051739ammonia transmembrane transporter activity IDA12946942


    SLC12A2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC12A2:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for SLC12A2: Slc12a2tm1Ges Slc12a2tm2Bhk Slc12a2tm1Bhk
         11 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Slc12a2):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  mortality/aging  nervous system  reproductive system 
     skeleton 

    SLC12A2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC12A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    2Neuroscience
    		Neuroscience1.00
    3Ca, cAMP and Lipid Signaling
    		Ca, cAMP and Lipid Signaling1.00
    4Cation-coupled Chloride cotransporters
    		Cation-coupled Chloride cotransporters1.00
    5Selected targets of ESR1
    		Selected targets of ESR11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SLC12A2
        Selected targets of ESR1

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC12A2
        Aldosterone Signaling in Epithelial Cells

    2 Cell Signaling Technology (CST) Pathways for SLC12A2
        Ca, cAMP and Lipid Signaling
    Neuroscience

    4        Reactome Pathways for SLC12A2
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Cation-coupled Chloride cotransporters
    Transport of inorganic cations/anions and amino acids/oligopeptides


    3         Kegg Pathways  (Kegg details for SLC12A2):
        Salivary secretion
    Pancreatic secretion
    Vibrio cholerae infection


    SLC12A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC12A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for SLC12A2 (P550112, 3 ENSP000002624614) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXSR1O957472, 3, ENSP000003117134MINT-5207773 MINT-5207788 I2D: score=4 STRING: ENSP00000311713
    STK39Q9UEW83, ENSP000003482784I2D: score=4 STRING: ENSP00000348278
    MAPK14Q165393, ENSP000002297944I2D: score=2 STRING: ENSP00000229794
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    RANBP2P497923I2D: score=2 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7629105
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport IEA--
    GO:0006814sodium ion transport IEA--
    GO:0015696ammonium transport IDA12946942


    SLC12A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC12A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC12A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SLC12A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FurosemideNa+/2Cl-/K+ (NKCC) cotransporter inhibitor. Also antagonizes GABAA[54-31-9]
    BumetanideNa+/2Cl-/K+ (NKCC) cotransporter inhibitor[28395-03-1]

    2 HMDB Compounds for SLC12A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    SodiumSodium (see all 2)7440-23-5--

    3 DrugBank Compounds for SLC12A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Potassium ChlorideChlorid draselny [Czech] (see all 9)7447-40-7target--12920401 17139284 17016423
    transportersubstrate12920401 17139284 17016423 12920401 17139284 17016423
    BumetanideBumetanida [INN-Spanish] (see all 2)28395-03-1targetinhibitor11292635 11698253 10831596 11443057 10567922
    QuinethazoneChinetazone [dcit] (see all 5)73-49-4targetinhibitor19636250 19474192 20528637 12538756

    10/18 Novoseek chemical compound relationships for SLC12A2 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bumetanide 90.3 30 17035299 (3), 18759624 (2), 18507737 (2), 16227993 (2) (see all 20)
    chloride 68.1 42 18256250 (4), 17493914 (3), 19036864 (3), 17093093 (2) (see all 16)
    gaba 62.2 19 18495889 (3), 17319917 (2), 18759624 (2), 16709666 (2) (see all 7)
    calyculin a 60.8 2 12740379 (1), 17229812 (1)
    furosemide 54 6 15223304 (1), 16222701 (1), 18840481 (1)
    cytochalasin d 36.5 2 16569755 (1), 18664589 (1)
    nacl 29.6 1 15843440 (1)
    forskolin 29.6 5 17478539 (2), 16569755 (2), 20362570 (1)
    sodium 28.6 10 15799030 (1), 16672150 (1), 18626965 (1)
    glutamate 18.8 5 12832529 (2), 11940529 (2), 15845211 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC12A2 / S12A2 

    Transcripts
    for SLC12A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC12A2 gene (2 alternative transcripts): 
    NM_001046.2  NM_001256461.1  

    Unigene Cluster for SLC12A2:

    Solute carrier family 12 (sodium/potassium/chloride transporters), member 2
    Hs.162585  [show with all ESTs]
    Unigene Representative Sequence: NR_046207
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262461(uc003kus.3 uc010jdf.3 uc010jdg.3) ENST00000509205
    ENST00000343225 ENST00000504416(uc003kut.1) ENST00000509616 ENST00000507791
    ENST00000502849

    miRNA
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    hsa-miR-411* hsa-miR-607 hsa-miR-188-5p hsa-miR-15a hsa-miR-4272 hsa-miR-218-1* hsa-miR-489 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: SLC12A2
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC12A2
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    Additional cDNA sequence: 

    AB209192.1 AF439152.1 AK025062.1 AY280459.1 BC144221.1 BC146839.1 M18217.1 NR_046207.1 
    U30246.1 Z36839.1 

    13 DOTS entries:

    DT.412027  DT.100038106  DT.75124843  DT.100731985  DT.100765012  DT.100678844  DT.100680694  DT.100779572 
    DT.120848280  DT.75179006  DT.97799812  DT.99994719  DT.95214412 

    24/152 AceView cDNA sequences (see all 152):

    AW014143 AW571545 BC033003 CB137340 AL079464 BX951180 AA627578 BG545721 
    BX106574 AW849655 AA262080 T25163 AW850621 AW954352 BM955817 BQ021600 
    NM_001046 AW849350 AA639406 AF439152 BE714223 CA392772 BE714217 AA425619 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A2    About this scheme

    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:                        


    ECgene alternative splicing isoforms for SLC12A2

    Expression
    for SLC12A2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC12A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCATTTGACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC12A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

    See SLC12A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC12A2

    SOURCE GeneReport for Unigene cluster: Hs.162585

    UniProtKB/Swiss-Prot: S12A2_HUMAN, P55011
    Tissue specificity: Expressed in many tissues

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    Orthologs
    for SLC12A2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SLC12A2 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Slc12a21 , 5 solute carrier family 12, member 21, 5 89.63(n)1
    94.69(a)1    		   18 (32.15 cM)5
    204961  NM_009194.31  NP_033220.21 
     578786785 
    chicken
    (Gallus gallus)    		 Aves SLC12A21 solute carrier family 12 (sodium/potassium/chloride more 81.8(n)
    89.44(a)    		   427123  XM_003643059.1  XP_003643107.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC12A26
    		 --
    		 85(a)
    		 1 ↔ 1
    		 2(30037137-30104104)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.15702 Transcribed sequence with moderate similarity to protein more 80.77(n)    BX728119.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii slc12a21 solute carrier family 12 (potassium/chloride transporters), more 69.24(n)
    75.41(a)    		   415170  NM_001163654.1  NP_001157126.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG43573
    Ncc691    		 sodium:chloride symporter3
    sodium chloride cotransporter 691    		 49(a)
    (best of 2)3
    53.99(n)1
    51.2(a)1    		   69B33
    394101  NM_206344.11  NP_996066.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F10E7.93 bumetanide-sensitive Na-K-Cl cotransporter 28(a)
    (best of 2)    		   II(7106372-7107509)   --


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

    Paralogs
    for SLC12A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC12A2 gene
    SLC12A72  SLC12A12  SLC12A82  SLC12A42  SLC12A52  SLC12A32  SLC12A92  SLC12A62  
    4 SIMAP similar genes for SLC12A2 using alignment to 4 protein entries:     S12A2_HUMAN (see all proteins):
    NKCC2    SLC12A1    SLC12A3    SLC12A5

    SLC12A2 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC12A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1563 NCBI SNPs in SLC12A2 are shown (see all 1563)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1397579151,2
    		--127417497(+) GGTTAC/TTACTA 4 -- int1 us2k10--------
    rs1905311701,2
    		--127417696(+) CTGTGG/TCTCTT 4 -- int1 us2k10--------
    rs1163050631,2
    		C,F,--127417746(+) CTCCAT/CAAAGT 4 -- int1 us2k11Minor allele frequency- C:0.04WA 118
    rs1930675271,2
    		--127417811(+) ACTTGC/GAGAGG 4 -- int1 us2k10--------
    rs1853611131,2
    		--127418215(+) GAGAAA/GCTAGA 4 -- us2k1 int10--------
    rs1505626501,2
    		--127418286(+) ACGCAA/GAAACC 4 -- us2k1 int10--------
    rs1885088001,2
    		--127418330(+) GCATTC/GTATTC 4 -- int1 us2k10--------
    rs1446235741,2
    		--127418409(+) TCTCA-/AAGAAGCT 4 -- int1 us2k10--------
    rs1810571241,2
    		--127418413(+) AAAGAA/CGCTCC 4 -- us2k1 int10--------
    rs1839942211,2
    		--127418551(+) CCGCTA/CGAAAG 4 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for SLC12A2 (127419458 - 127525380 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC12A2
         1 CNV: 36344

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    Disorders / Diseases
    for SLC12A2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC12A2 for disorders           About GeneDecksing

    OMIM gene information: 600840    OMIM disorders: --

    20/38 diseases for SLC12A2 (see all 38):    About MalaCards
    splenic sequestration    hypothalamic hamartomas    temporal lobe epilepsy    basaloid squamous cell carcinoma
    arachnoid cysts    basosquamous carcinoma    acute chest syndrome    arachnoiditis
    sickle cell anemia    cystic fibrosis    squamous cell carcinoma    polycystic kidney disease
    inflammatory bowel disease    hearing loss    hemoglobinopathy    kidney disease
    hepatitis a    sjogren's syndrome    ischemia    neurologic diseases

    1 disease from the University of Copenhagen DISEASES database for SLC12A2:
    Bartter disease

    10 Novoseek disease relationships for SLC12A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bartters syndrome 46.9 1 12920401 (1)
    cystic fibrosis 41.4 5 16608706 (1), 14673180 (1), 10600761 (1), 11910358 (1) (see all 5)
    epilepsy 25.4 3 16709666 (2), 17207578 (1)
    cerebral ischemia 23.6 1 12832529 (1)
    ischemia 16.8 15 12413653 (4), 12535773 (4), 17035299 (2), 18507737 (1) (see all 7)
    inflammation 11.9 3 9185518 (1), 19167425 (1)
    edema 11.8 3 12535773 (2), 12413653 (1)
    tumors 1.1 1 9185518 (1)
    necrosis 0 1 9185518 (1)
    infarct 0 1 15845211 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC12A2 (4 documents)

    Export disorders for SLC12A2 gene to outside databases

    Publications
    for SLC12A2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC12A2 gene, integrated from 9 sources (see all 169):
    (articles sorted by number of sources associating them with SLC12A2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. (PubMed id 7629105)1, 2, 3 Payne J.A.... Forbush B. III (1995)
    2. Quantitation of Na(+)-K(+)-2Cl(-) cotransport splice variants in human tissues using kinetic polymerase chain reaction. (PubMed id 11700976)1, 2, 9 Vibat C.R.... O'Donnell M.E. (2001)
    3. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (2011)
    4. Dynamic and differential regulation of NKCC1 by calcium and cAMP in the native human colonic epithelium. (PubMed id 17478539)1, 9 Reynolds A....Williams M.R. (2007)
    5. PASK (proline-alanine-rich STE20-related kinase), a regulatory kinase of the Na-K-Cl cotransporter (NKCC1). (PubMed id 12740379)1, 9 Dowd B.F. and Forbush B. (2003)
    6. Opposite effect of membrane raft perturbation on tran sport activity of KCC2 and NKCC1. (PubMed id 19686239)1, 9 Hartmann A.M....Nothwang H.G. (2009)
    7. Basolateral chloride transporters in autosomal dominant polycystic kidney disease. (PubMed id 12355171)1, 9 Lebeau C....Devuyst O. (2002)
    8. Growth factors stimulate the Na-K-2Cl cotransporter NKCC1 through a novel Cl(-)-dependent mechanism. (PubMed id 11698253)7, 9 Jiang G....O'Neill W.C. (2001)
    9. Induction of Na+/K+/2Cl- cotransporter expression mediates chronic potentiation of intestinal epithelial Cl- secretion by EGF. (PubMed id 18400987)1, 9 O'Mahony F....Keely S.J. (2008)
    10. Ammonium transport in the colonic crypt cell line, T84: role for Rhesus glycoproteins and NKCC1. (PubMed id 18032481)1, 9 Worrell R.T....Matthews J.B. (2008)

    External Searches for SLC12A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC12A2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6558 HGNC: 10911 AceView: SLC12A2 Ensembl:ENSG00000064651 euGenes: HUgn6558
    ECgene: SLC12A2 Kegg: 6558 H-InvDB: SLC12A2

    Other Databases showing SLC12A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC12A2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC12A2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC12A2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC12A2 gene:
    Search GeneIP for patents involving SLC12A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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