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SLC12A6 Gene

protein-coding   GIFtS: 69
GCID: GC15M034522

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

(Previous name: agenesis of corpus callosum and peripheral neuropathy (Andermann...)
(Previous symbols: KCC3, ACCPN)
  See SLC12A6-related diseases
at  

(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 (Potassium/Chloride Transporter), Member 61 2     Potassium Chloride Cotransporter 32
KCC31 2 3 5     Potassium Chloride Cotransporter KCC3a-S32
ACCPN1 2 5     Potassium-Chloride Transporter-3a2
Electroneutral Potassium-Chloride Cotransporter 32 3     Potassium-Chloride Transporter-3b2
K-Cl Cotransporter 32 3     Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 62
KCC3A2 5     Solute Carrier Family 12 Member 62
KCC3B2 5     EC 1.2.4.18
Agenesis Of Corpus Callosum And Peripheral Neuropathy (Andermann Syndrome)1     EC 6.1.1.38

External Ids:    HGNC: 109141   Entrez Gene: 99902   Ensembl: ENSG000001401997   OMIM: 6048785   UniProtKB: Q9UHW93   

Export aliases for SLC12A6 gene to outside databases

Previous GC identifers: GC15M029805 GC15M027241 GC15M032104 GC15M032241 GC15M032312 GC15M011385


(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 SLC12A6 Gene:
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins
that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins
encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results
in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis
of the corpus callosum with peripheral neuropathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC12A6 Gene:
SLC12A6 (solute carrier family 12 (potassium/chloride transporter), member 6) is a protein-coding gene. Diseases associated with SLC12A6 include hereditary motor and sensory neuropathy with agenesis of the corpus callosum, and peripheral neuropathy. GO annotations related to this gene include potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.

UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9
Function: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May
contribute to cell volume homeostasis in single cells

Gene Wiki entry for SLC12A6 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC12A6 gene promoter:
         PPAR-gamma1   SEF-1 (1)   Lmo2   CUTL1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SLC12A6 promoter sequence
   Search Chromatin IP Primers for SLC12A6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC12A6


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

Entrez Gene cytogenetic band: 15q13   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q13

SLC12A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC12A6 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M034522:  view genomic region     (about GC identifiers)

Start:
34,522,197 bp from pter      End:
34,630,265 bp from pter
Size:
108,069 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9 (See protein sequence)
Recommended Name: Solute carrier family 12 member 6  
Size: 1150 amino acids; 127617 Da
Subunit: Homomultimer and heteromultimer with other K-Cl cotransporters (By similarity)
Secondary accessions: A0AV76 Q2VI00 Q7Z2E7 Q7Z4G5 Q8TDD4 Q9UFR2 Q9Y642 Q9Y665
Alternative promoter usage, Alternative splicing: 6 isoforms:  Q9UHW9-1   Q9UHW9-2   Q9UHW9-3   Q9UHW9-4   Q9UHW9-5   Q9UHW9-6   (Does not differ in the osmotic set point of swelling activation but, activation is more rapid)

Explore the universe of human proteins at neXtProt for SLC12A6: NX_Q9UHW9

Explore proteomics data for SLC12A6 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Ubiquitination2 at Lys600
  • Glycosylation2 at Asn379, Asn398, Asn411, Asn428
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for SLC12A6 (Q9UHW9)
     RLEEGPP  RVYGTAF 


    See SLC12A6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001035959.1  NP_001035960.1  NP_001035961.1  NP_001035962.1  NP_005126.1  NP_598408.1  

    ENSEMBL proteins: 
     ENSP00000380819   ENSP00000454168   ENSP00000346112   ENSP00000452904   ENSP00000387725  
     ENSP00000453702   ENSP00000380814   ENSP00000452705   ENSP00000454069   ENSP00000290209  
     ENSP00000453473   ENSP00000452776   ENSP00000454037   ENSP00000452771   ENSP00000452828  
     ENSP00000452857   ENSP00000390199  
    Reactome Protein details: Q9UHW9

    SLC12A6 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SLC12A6
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    Novus Biologicals SLC12A6 Protein
    Novus Biologicals SLC12A6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC12A6 

    SLC12A6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    SLC12A6 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SLC12A6 


    (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: K-Cl cotransporter 3
    SLC12 family of cation-coupled chloride transporters

    4 InterPro protein domains:
     IPR004842 Na/K/Cl_cotransptS
     IPR000076 KCL_cotranspt
     IPR004841 AA-permease/SLC12A_dom
     IPR018491 K/Cl_cotranspt_1/3

    Graphical View of Domain Structure for InterPro Entry Q9UHW9

    ProtoNet protein and cluster: Q9UHW9

    1 Blocks protein domain: IPB000076 K-Cl co-transporter signature

    UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9
    Similarity: Belongs to the SLC12A transporter family


    Find genes that share domains with SLC12A6           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S12A6_HUMAN, Q9UHW9
    Function: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May
    contribute to cell volume homeostasis in single cells
    Enzyme regulation: Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by
    WNK3
    Biophysicochemical properties: Kinetic parameters: KM=10.7 mM for extracellular Rb(+) (isoform 1); KM=7.3 mM for
    extracellular Cl(-) (isoform 1); KM=17.2 mM for extracellular Rb(+) (isoform 2); KM=8.2 mM for extracellular
    Cl(-) (isoform 2);
    Induction: Up-regulated by VEGF. Down-regulated by TNF

         Genatlas biochemistry entry for SLC12A6:
    solute carrier family 12 (sodium/potassium/chloride cotransporter),highly expressed in brain,heart,skeletal muscle
    and kidney,upregulated in vascular endothelial cells by VEGF and decreased by TNF

         Enzyme Numbers (IUBMB): EC 1.2.4.12 EC 6.1.1.32

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0015377cation:chloride symporter activity ----
    GO:0015379potassium:chloride symporter activity IDA10187864
         
    Find genes that share ontologies with SLC12A6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC12A6:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Slc12a6):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hearing/vestibular/ear 
     integument  muscle  nervous system  normal  reproductive system 
     skeleton  vision/eye 

    Find genes that share phenotypes with SLC12A6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc12a6tm1.1Garo for SLC12A6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC12A6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC12A6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC12A6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC12A6

    miRNA
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    miRTarBase miRNAs that target SLC12A6:
    hsa-mir-652-3p (MIRT039459)

    Block miRNA regulation of human, mouse, rat SLC12A6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC12A6 (see all 68):
    hsa-miR-411* hsa-miR-576-3p hsa-miR-188-5p hsa-miR-4305 hsa-miR-30d hsa-miR-138-2* hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidSLC12A6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC12A6

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 6): SLC12A6 (NM_005135)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC12A6
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A6


    (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
    S12A6_HUMAN, Q9UHW9: Basolateral cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS10187864
    GO:0016323basolateral plasma membrane ISS--

    Find genes that share ontologies with SLC12A6           About GenesLikeMe


    (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 SLC12A6 About    
    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


    Find genes that share SuperPaths with SLC12A6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC12A6
        Cation-coupled Chloride cotransporters


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC12A6
    Interactions:

        GeneGlobe Interaction Network for SLC12A6

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC12A6 (Q9UHW93 ENSP000003461124) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXSR1O957473, ENSP000003117134I2D: score=1 STRING: ENSP00000311713
    STK39Q9UEW83, ENSP000003482784I2D: score=1 STRING: ENSP00000348278
    UBCENSP000003448184STRING: ENSP00000344818
    --ENSP000001954194STRING: ENSP00000195419
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis NAS10187864
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport IEA--
    GO:0006821chloride transport IDA10187864

    Find genes that share ontologies with SLC12A6           About GenesLikeMe



    (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 

    Browse Tocris compounds for SLC12A6 (S12A6)

    1 HMDB Compound for SLC12A6    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    1 DrugBank Compound for SLC12A6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Potassium ChlorideChlorid draselny [Czech] (see all 9)7447-40-7target--17418819 16949074 16943364
    transportersubstrate17418819 16949074 16943364 17418819 16949074 16943364

    1 IUPHAR Ligand for SLC12A6 (K-Cl cotransporter 3)    About this table
    LigandTypeActionAffinityPubmed IDs
    DIOA
    InhibitorInhibition--

    4 Novoseek inferred chemical compound relationships for SLC12A6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium chloride 72.1 8 18536702 (2), 11325574 (2)
    n-ethylmaleimide 67.3 3 10600773 (1), 11724933 (1), 17215889 (1)
    furosemide 39.7 2 10187864 (1), 10347194 (1)
    phosphatidylinositol 22.9 1 17133354 (1)



    Find genes that share compounds with SLC12A6           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC12A6 gene (6 alternative transcripts): 
    NM_001042494.1  NM_001042495.1  NM_001042496.1  NM_001042497.1  NM_005135.2  NM_133647.1  

    Unigene Cluster for SLC12A6:

    Solute carrier family 12 (potassium/chloride transporters), member 6
    Hs.510939  [show with all ESTs]
    Unigene Representative Sequence: NM_001042496
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000397707(uc001zhx.3) ENST00000560611(uc001zhz.3 uc001zhw.3)
    ENST00000354181(uc001zib.3 uc001zic.3) ENST00000559523(uc001zht.3)
    ENST00000458406(uc001zia.3) ENST00000559664 ENST00000397702(uc001zid.3)
    ENST00000560164(uc001zhu.3) ENST00000561080(uc001zhy.3 uc010bau.3)
    ENST00000290209(uc001zhv.3) ENST00000558667 ENST00000558589 ENST00000559076
    ENST00000559441 ENST00000558950 ENST00000560023 ENST00000560332 ENST00000561120

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC12A6 (see all 68):
    hsa-miR-411* hsa-miR-576-3p hsa-miR-188-5p hsa-miR-4305 hsa-miR-30d hsa-miR-138-2* hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidSLC12A6 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat SLC12A6

    Additional mRNA sequence: 

    AF105366.1 AF108831.1 AF116242.1 AF477977.1 AF531258.1 AF531259.1 AF531260.1 AK056019.1 
    AK128133.1 AK292550.1 AK315283.1 AL117500.1 BC033894.1 BC051709.1 BC051744.1 BC070107.1 
    BC126241.1 BC126243.1 BC127855.1 BC150584.1 BX648195.1 DQ138323.1 

    23 DOTS entries:

    DT.211584  DT.92439651  DT.100658962  DT.95096912  DT.99998399  DT.211583  DT.100722154  DT.121056342 
    DT.121056275  DT.95123220  DT.100708240  DT.101982512  DT.95151093  DT.95241237  DT.100647501  DT.101978597 
    DT.121056268  DT.75131979  DT.100810119  DT.101976770  DT.121056309  DT.211585  DT.453348 

    Selected AceView cDNA sequences (see all 64):

    BC070107 BU623116 AL117500 AF116242 BC051744 AK128133 BC051709 AF108831 
    AI590809 NM_005135 AW294549 BF445366 AW194285 BX648195 BM702804 AI364973 
    AF105366 BC033894 AF531259 AF531258 BX475920 BX954400 BI825527 BG399131 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A6 (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
    SP1:        -     -     -     -     -     -           -     -                                                                                                   
    SP2:                          -     -     -           -     -                                                                                                   
    SP3:                          -     -     -           -     -                                                                                                   
    SP4:                                                        -                                                                                                   
    SP5:                                                  -     -                                                                                                   

    ExUns: 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b
    SP1:                          -     -                 -                             -                                 
    SP2:                          -     -                 -                             -                                 
    SP3:                          -     -                 -                                                               
    SP4:                          -     -                 -                             -                                 
    SP5:                          -     -                 -                             -                                 


    ECgene alternative splicing isoforms for SLC12A6

    (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)
    About This Section

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    SLC12A6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAAGCTGA
    SLC12A6 Expression
    About this image


    SLC12A6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Testis (Reproductive System)
    SLC12A6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC12A6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.510939

    UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9
    Tissue specificity: Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle,
    placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney.
    Isoform 5 is testis specific. Expressed in the proximal tubule of the kidney (at protein level)

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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.

    Orthologs for SLC12A6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc12a61 , 5 solute carrier family 12, member 61, 5 90.61(n)1
    98.17(a)1
      2 (56.99 cM)5
    1077231  NM_133649.21  NP_598410.21 
     1122658255 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A66
    solute carrier family 12 (potassium/chloride trans...
    90(a)
    1 ↔ 1
    GL343220.1(787369-832107)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986632 hypothetical protein LOC398663 75.95(n)    AF325505.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc12a7b1 solute carrier family 12, member 7b 67.54(n)
    71.55(a)
      567667  XM_690968.6  XP_696060.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta kcc6
    kazachoc
    56(a)
    1 → many
    2R(19795651-19812619)
    worm
    (Caenorhabditis elegans)
    Secernentea H16O14.13   -- 48(a)
    (best of 3)
      IV(6065705-6074152)   --


    ENSEMBL Gene Tree for SLC12A6 (if available)
    TreeFam Gene Tree for SLC12A6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC12A6 gene
    SLC12A72  SLC12A32  SLC12A92  SLC12A22  SLC12A82  SLC12A12  SLC12A42  SLC12A52  
    8 SIMAP similar genes for SLC12A6 using alignment to 11 protein entries:     S12A6_HUMAN (see all proteins):
    DKFZp686O1827    SLC12A4    SLC12A7    SLC12A5    SLC12A9    SLC12A8
    SLC12A3    SLC12A1

    Find genes that share paralogs with SLC12A6           About GenesLikeMe



    (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 SLC12A6 (see all 2561)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3713226231,2
    C--11391115(+) AAATG-/T/    
       TTTTT
    TTTTT
    6 -- int10--------
    rs2003632631,2
    C--11406597(+) AAAAAA/GATAAT 6 -- int10--------
    rs114398161,2
    C--11434411(+) TTTTAT/-TTTTC 6 -- int11Minor allele frequency- -:0.00CSA 2
    rs112914631,2
    C--11439252(+) TAGCA-/TTTTTT 6 -- int1 trp30--------
    rs3478081,2
    F--11444373(+) tgagaC/Tgatgg 6 -- int13Minor allele frequency- T:0.17NA MN 188
    rs1166126621,2
    C,F--14588743(+) TGCCTT/CGGCCT 6 -- ds50011Minor allele frequency- C:0.06WA 118
    rs1866894591,2
    --14588752(+) CTCCCA/GAAGTG 6 -- ds50010--------
    rs1451983811,2
    C--14588834(+) TAAAG-/TATT  
            
    TATTA
    6 -- ds50010--------
    rs1910990541,2
    C--14588841(+) ATTAAA/GTAATT 6 -- ds50010--------
    rs80330871,2
    C,F--14588898(+) TCTTTC/ATTTCT 6 -- ds50018Minor allele frequency- A:0.15WA CSA NA EU 1561

    HapMap Linkage Disequilibrium report for SLC12A6 (34522197 - 34630265 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC12A6 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662279CNV Deletion23128226
    esv2659969CNV Deletion23128226
    esv2749547CNV Deletion23290073
    nsv469547CNV Loss16826518
    nsv482995CNV Loss15286789
    nsv819906CNV Loss19587683
    nsv428303CNV Gain18775914
    esv33337CNV Gain+Loss17666407
    nsv471682CNV Gain+Loss15918152
    dgv731e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SLC12A6
    Locus Specific Mutation Databases (LSDB): SLC12A6

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604878   
    OMIM disorders: 218000  
    UniProtKB/Swiss-Prot: S12A6_HUMAN, Q9UHW9
  • Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000]: A disease that is
    characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete
    or partial agenesis of the corpus callosum. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for SLC12A6:    
    About MalaCards
    hereditary motor and sensory neuropathy with agenesis of the corpus callosum    peripheral neuropathy    benign epilepsy with centrotemporal spikes    neuropathy

    2 diseases from the University of Copenhagen DISEASES database for SLC12A6:
    Peripheral neuropathy     Benign epilepsy with centrotemporal spikes

    Find genes that share disorders with SLC12A6           About GenesLikeMe

    4 Novoseek inferred disease relationships for SLC12A6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    andermann syndrome 96.2 10 16606917 (4), 12368912 (2), 18536702 (1), 20020398 (1)
    myoclonic epilepsy juvenile 65.9 1 10187864 (1)
    sensory neuropathy 61.2 2 17215889 (1), 20020398 (1)
    tumors 0 1 10187864 (1)

    GeneTests: SLC12A6
    GeneReviews: SLC12A6
    Genetic Association Database (GAD): SLC12A6
    Human Genome Epidemiology (HuGE) Navigator: SLC12A6 (4 documents)

    Export disorders for SLC12A6 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 SLC12A6 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with SLC12A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. (PubMed id 10347194)1, 2, 3, 9 Mount D.B....Gamba G. (J. Biol. Chem. 1999)
    2. Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. (PubMed id 10187864)1, 2, 3, 9 Hiki K.... Gamble J.R. (J. Biol. Chem. 1999)
    3. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. (PubMed id 12368912)1, 2, 4, 9 Howard H.C.... Rouleau G.A. (Nat. Genet. 2002)
    4. NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. (PubMed id 16048901)1, 2, 9 Mercado A.... Mount D.B. (Am. J. Physiol. 2005)
    5. Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. (PubMed id 10600773)1, 2, 9 Race J.E....Holtzman E.J. (Am. J. Physiol. 1999)
    6. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (Am. J. Physiol. 2011)
    7. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    8. Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder. (PubMed id 16098236)1, 4 Meyer J....Lesch K.P. (Int. J. Neuropsychopharmacol. 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. (PubMed id 11551954)1, 2 Casula S.... Alper S.L. (J. Biol. Chem. 2001)

    (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: 9990 HGNC: 10914 AceView: SLC12A6 Ensembl:ENSG00000140199 euGenes: HUgn9990
    ECgene: SLC12A6 H-InvDB: SLC12A6

    (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 SLC12A6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC12A6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC12A6 gene:
    Search GeneIP for patents involving SLC12A6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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