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SLC12A2 Gene

protein-coding   GIFtS: 68
GCID: GC05P127419

Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter),...

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter),
Member 21 2
     BSC2
Basolateral Na-K-Cl Symporter1 2 3     BSC22
Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 11 2 3     Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member
22
NKCC12 3 5     Solute Carrier Family 12 Member 22

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 splenic sequestration. GO annotations related to this gene include and sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.

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 Gene:
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.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   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 plasmidSLC12A2 promoter sequence
   Search Chromatin IP Primers for SLC12A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S12A2_HUMAN, P55011 (See protein sequence)
Recommended Name: Solute carrier family 12 member 2  
Size: 1212 amino acids; 131447 Da
Secondary accessions: Q8N713 Q8WWH7
Alternative splicing: 2 isoforms:  P55011-1   P55011-3   

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

Explore proteomics data for SLC12A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys237, Lys1007
  • Glycosylation2 at Asn553, Asn562
  • Modification sites at PhosphoSitePlus

  • See SLC12A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000262461   ENSP00000427109   ENSP00000340878  
    Reactome Protein details: P55011

    SLC12A2 Human Recombinant Protein Products:

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    SLC12A2 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Basolateral Na-K-Cl symporter
    SLC12 family of cation-coupled chloride transporters

    5 InterPro protein domains:
     IPR002443 Na/K/Cl_cotranspt
     IPR004842 Na/K/Cl_cotransptS
     IPR013612 AA_permease_N
     IPR004841 AA-permease/SLC12A_dom
     IPR002444 Na/K/Cl_cotranspt1

    Graphical View of Domain Structure for InterPro Entry P55011

    ProtoNet protein and cluster: P55011

    3 Blocks protein domains:
    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


    SLC12A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17721439
    GO:0008511sodium:potassium:chloride symporter activity IEA--
    GO:0008519ammonium transmembrane transporter activity IDA12946942
    GO:0015377cation:chloride symporter activity ----
         
    SLC12A2 for ontologies           About GeneDecksing


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

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Slc12a2):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  mortality/aging  nervous system  reproductive system 
     skeleton 

    SLC12A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC12A2: Slc12a2tm1Ges Slc12a2tm2Bhk Slc12a2tm1Bhk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC12A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC12A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC12A2

    miRNA
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    miRTarBase miRNAs that target SLC12A2:
    hsa-let-7c-5p (MIRT051865), hsa-mir-30a-5p (MIRT028509), hsa-mir-16-5p (MIRT001417)

    Block miRNA regulation of human, mouse, rat SLC12A2 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat SLC12A2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SLC12A2 (NM_001046)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S12A2_HUMAN, P55011: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7629105
    GO:0016020membrane TAS7629105
    GO:0016021integral component of membrane ----
    GO:0016323basolateral plasma membrane IEA--

    SLC12A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC12A2 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Cation-coupled Chloride cotransporters0.00
    2Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Aldosterone Signaling in Epithelial Cells0.47
    3Insulin receptor recycling
    Vibrio cholerae infection0.40
    4Salivary secretion
    Salivary secretion0.34
    5Selected targets of ESR1
    Selected targets of ESR1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    1 Reactome Pathway for SLC12A2
        Cation-coupled Chloride cotransporters


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


    SLC12A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC12A2
    Interactions:

        GeneGlobe Interaction Network for SLC12A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SLC12A2 (P550111, 2, 3 ENSP000002624614) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXSR1O957471, 2, 3, ENSP000003117134EBI-2801449,EBI-620853 MINT-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): Selected biological process terms (see all 18):    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:0006821chloride transport ----

    SLC12A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    3 IUPHAR Ligands for SLC12A2 (Basolateral Na-K-Cl symporter)    About this table
    LigandTypeActionAffinityPubmed IDs
    bumetanide
    InhibitorInhibition11882915
    piretanide
    InhibitorInhibition11882915
    furosemide
    InhibitorInhibition11882915

    Selected Novoseek inferred 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)



    SLC12A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR 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
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      QuantiFast Probe-based Assays in human, mouse, rat SLC12A2

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 152):

    BE714223 AA639406 BG287050 AU151037 BG545721 T25163 AI744509 CB146321 
    BX106574 AW571545 AW849350 BC033003 BM955817 AW850621 AA425619 AL079464 
    BM663073 CB139845 BX951180 AA627578 AY280459 AA262080 AU133142 CD677725 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC12A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATTTGACA
    SLC12A2 Expression
    About this image


    SLC12A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Stomach (Gastrointestinal Tract)
    SLC12A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC12A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162585

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

        Custom PCR Arrays for SLC12A2
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC12A2 gene from Selected species (see all 17)    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 89.32(n)1
    94.37(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 81.29(n)
    88.83(a)
      427123  XM_004949378.1  XP_004949435.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A26
    solute carrier family 12 (sodium/potassium/chlorid...
    85(a)
    1 ↔ 1
    2(30037164-30107844)
    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 69.16(n)
    75.27(a)
      415170  NM_001002080.1  NP_001002080.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43573
    Ncc691
    sodium:chloride symporter3
    sodium chloride cotransporter 691
    49(a)
    (best of 2)3
    55.24(n)1
    54.24(a)1
      69B33
    394101  NM_140315.41  NP_648572.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F10E7.93 bumetanide-sensitive Na-K-Cl
    cotransporter
    28(a)
    (best of 2)
      II(7106372-7107509)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative ion transporter, similar to mammalian ele...
    22(a)
    1 → many
    II(686901-690263) YBR235W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC12A2 gene
    SLC12A72  SLC12A32  SLC12A92  SLC12A62  SLC12A82  SLC12A12  SLC12A42  SLC12A52  
    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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC12A2 (see all 1870)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1439855871,2
    C--127421007(+) TTTTGA/CGATGA 3 -- int10--------
    rs1825806001,2
    --127421052(+) AGGGAC/TAGAGG 3 -- int10--------
    rs1872414531,2
    --127421157(+) CTTTGC/TAAACA 3 -- int10--------
    rs1125176711,2
    C--127421222(+) AAGACTT/-ATTTC 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs733353951,2
    C,F--127421284(+) TCGTTG/AATGTT 3 -- int11Minor allele frequency- A:0.50WA 2
    rs802145111,2
    C,F--127421337(+) AAGTGT/CGTAAT 3 -- int11Minor allele frequency- C:0.06WA 118
    rs715879631,2
    C,F--127421694(+) CTATTC/TTTTTT 3 -- int14Minor allele frequency- T:0.12NA 126
    rs2007166381,2
    --127421694(+) CTATT-/CTTTTT 3 -- int10--------
    rs119513321,2
    C,F,H--127421767(+) TCTTAG/AGACAG 3 -- int15Minor allele frequency- A:0.02NS EA WA 534
    rs1897908231,2
    --127421872(+) TTTTAC/GAAAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC12A2 (127419458 - 127525380 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC12A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672847CNV Deletion23128226
    nsv4993CNV Loss18451855
    nsv830482CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600840    OMIM disorders: --

    Selected diseases for SLC12A2 (see all 37):    
    About MalaCards
    basosquamous carcinoma    splenic sequestration    arachnoid cysts    hypothalamic hamartomas
    arachnoiditis    bartter disease    basaloid squamous cell carcinoma    acute chest syndrome
    hemoglobinopathy    hepatitis a    neurologic diseases    sickle cell anemia
    temporal lobe epilepsy    polycystic kidney disease    ischemia    choroiditis
    kidney disease    thalassemia    sjogren's syndrome    cystic fibrosis

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

    SLC12A2 for disorders           About GeneDecksing

    10 Novoseek inferred 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)

    Genetic Association Database (GAD): SLC12A2
    Human Genome Epidemiology (HuGE) Navigator: SLC12A2 (4 documents)

    Export disorders for SLC12A2 gene to outside databases

    (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)
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    PubMed articles for SLC12A2 gene, integrated from 10 sources (see all 183):
    (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 (J. Biol. Chem. 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. (Anal. Biochem. 2001)
    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. (PubMed id 21139019)1, 4 Walsh K.M....Hoh J. (Endocr. Relat. Cancer 2011)
    4. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (Am. J. Physiol. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. (PubMed id 19523148)1, 4 Pawelczyk M....Sliwinska-Kowalska M. (Ann. Hum. Genet. 2009)
    7. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PubMed id 19023125)1, 4 Potkin S.G....Macciardi F. (Schizophr Bull 2009)
    8. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    9. 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. (J. Physiol. (Lond.) 2007)
    10. 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. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC12A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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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