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

SLC12A5 Gene

protein-coding   GIFtS: 63
GCID: GC20P044651

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

  See 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)
About This Section

Aliases
Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 51 2     K-Cl Cotransporter 22 3
KCC22 3 5     KIAA11763 5
Electroneutral Potassium-Chloride Cotransporter 22 3     Erythroid K-Cl Cotransporter 22
Neuronal K-Cl Cotransporter2 3     Solute Carrier Family 12 Member 52
hKCC22 3     

External Ids:    HGNC: 138181   Entrez Gene: 574682   Ensembl: ENSG000001241407   OMIM: 6067265   UniProtKB: Q9H2X93   

Export aliases for SLC12A5 gene to outside databases

Previous GC identifers: GC20P044386 GC20P045296 GC20P045343 GC20P044091 GC20P041391


(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 SLC12A5 Gene:
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical
equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can
function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium
and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl
cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript
variants encoding different isoforms. (provided by RefSeq, Sep 2008)

GeneCards Summary for SLC12A5 Gene: 
SLC12A5 (solute carrier family 12 (potassium/chloride transporter), member 5) is a protein-coding gene. Diseases associated with SLC12A5 include hypothalamic hamartomas, and gitelman syndrome, and among its related super-pathways are Transmembrane transport of small molecules and Morphine addiction. GO annotations related to this gene include potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.

UniProtKB/Swiss-Prot: S12A5_HUMAN, Q9H2X9
Function: Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under
isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons

Gene Wiki entry for SLC12A5 (Chloride potassium symporter 5) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC12A5 gene promoter:
         CREB   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC12A5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC12A5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A5


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

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

SLC12A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC12A5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044651:  view genomic region     (about GC identifiers)

Start:
44,650,329 bp from pter      End:
44,688,789 bp from pter
Size:
38,461 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S12A5_HUMAN, Q9H2X9 (See protein sequence)
Recommended Name: Solute carrier family 12 member 5  
Size: 1139 amino acids; 126184 Da
Subunit: Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Inhibited by furosemide and bumetanide
Secondary accessions: A2RTX2 Q5VZ41 Q9H4Z0 Q9ULP4
Alternative splicing: 2 isoforms:  Q9H2X9-1   Q9H2X9-2   (Ref.1 (AAG43493) sequence is in conflict in position: 2:L->P)

Explore the universe of human proteins at neXtProt for SLC12A5: NX_Q9H2X9

Explore proteomics data for SLC12A5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H2X9

  • SLC12A5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC12A5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001128243.1  NP_065759.1  

    ENSEMBL proteins: 
     ENSP00000361389   ENSP00000243964   ENSP00000387694   ENSP00000446091  
    Reactome Protein details: Q9H2X9
    Human Recombinant Protein Products for SLC12A5: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS12106695
    GO:0043025neuronal cell body IEA--
    GO:0043198dendritic shaft IEA--

    SLC12A5 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: K-Cl cotransporter 2 
    SLC12 family of cation-coupled chloride transporters

    3 InterPro protein domains:
     IPR000076 KCL_cotranspt
     IPR004841 AA-permease_dom
     IPR004842 Na/K/Cl_cotransptS

    Graphical View of Domain Structure for InterPro Entry Q9H2X9

    ProtoNet protein and cluster: Q9H2X9

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

    UniProtKB/Swiss-Prot: S12A5_HUMAN, Q9H2X9
    Similarity: Belongs to the SLC12A transporter family


    SLC12A5 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S12A5_HUMAN, Q9H2X9
    Function: Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under
    isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons
    Enzyme regulation: Inhibited by WNK3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0015377cation:chloride symporter activity ----
    GO:0015379potassium:chloride symporter activity NAS12106695
         
    SLC12A5 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Slc12a5):
     behavior/neurological  growth/size  hearing/vestibular/ear  integument  mortality/aging 
     nervous system  respiratory system  vision/eye 

    SLC12A5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC12A5: Slc12a5tm1Tjj Slc12a5tm1Dlp

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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC12A5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    2Circadian entrainment
    GABAergic synapse0.53
    3Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    4Synaptic transmission: ion currents
    Synaptic transmission: ion currents
    5Cation-coupled Chloride cotransporters
    Cation-coupled Chloride cotransporters

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC12A5
        Synaptic transmission- ion currents


    4        Reactome Pathways for SLC12A5
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Cation-coupled Chloride cotransporters
    Transport of inorganic cations/anions and amino acids/oligopeptides


    1         Kegg Pathway  (Kegg details for SLC12A5):
        GABAergic synapse


    SLC12A5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC12A5

    3 Interacting proteins for SLC12A5 (Q9H2X93) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CKBP122773I2D: score=1 
    DLG4P783523I2D: score=1 
    YWHABP319463I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS12106695
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport IEA--
    GO:0006821chloride transport ----
    GO:0006873cellular ion homeostasis NAS12106695

    SLC12A5 for ontologies           About GeneDecksing



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

    SLC12A5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC12A5 (S12A5)

    2 HMDB Compounds for SLC12A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    FurosemideAcetic acid potassium salt (see all 176)54-31-9--

    2 DrugBank Compounds for SLC12A5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Potassium ChlorideChlorid draselny [Czech] (see all 9)7447-40-7target--17418819 16949074 16936706 17134779 17008020
    transportersubstrate17418819 16949074 16936706 17134779 17008020 17418819 16949074 16936706 17134779 17008020
    BumetanideBumetanida [INN-Spanish] (see all 2)28395-03-1targetinhibitor10793196

    2 IUPHAR Ligands for SLC12A5 (K-Cl cotransporter 2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    DIOA
    InhibitorInhibition--
    VU0240551
    InhibitorInhibition19279215

    10 Novoseek inferred chemical compound relationships for SLC12A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bumetanide 82.9 1 18840481 (1)
    potassium chloride 79.2 16 19767413 (2), 18063479 (1), 18602983 (1), 20086212 (1) (see all 9)
    gaba 78.6 45 19679663 (4), 18755547 (4), 15932617 (3), 16081002 (3) (see all 21)
    chloride 78.1 34 18772206 (3), 19923298 (2), 18769373 (2), 17093093 (1) (see all 20)
    furosemide 71.3 5 15175220 (2), 18840481 (1), 16905250 (1)
    glutamate 38.4 2 18772206 (2)
    strychnine 38.1 2 12401451 (1), 16905250 (1)
    bicuculline 35.3 3 16905250 (1), 18755547 (1)
    tyrosine 3.96 11 19679663 (6), 10942735 (2), 18063479 (1)
    calcium 0 4 18076645 (1), 17855601 (1), 19376067 (1), 15932617 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC12A5 / S12A5

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC12A5 gene (2 alternative transcripts): 
    NM_001134771.1  NM_020708.4  

    Unigene Cluster for SLC12A5:

    Solute carrier family 12 (potassium/chloride transporter), member 5
    Hs.21413  [show with all ESTs]
    Unigene Representative Sequence: NM_020708
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372315(uc002xra.2) ENST00000243964(uc010zxm.1 uc002xrb.2)
    ENST00000454036(uc010zxl.1) ENST00000539566
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    Additional mRNA sequence: 

    AB033002.1 AF208159.1 AK055066.1 AK289758.1 AK294059.1 AK295096.1 AK295900.1 AK296331.1 
    BC036329.1 BC132668.1 BC132670.1 U79245.1 

    12 DOTS entries:

    DT.115090  DT.97841683  DT.120817721  DT.120817448  DT.120817873  DT.40246449  DT.95094916  DT.95253335 
    DT.95359806  DT.99935455  DT.213088  DT.97784737 

    24/104 AceView cDNA sequences (see all 104):

    BC036329 AA322772 AB033002 BM725637 AL711911 AA322789 NM_020708 Z43090 
    H85788 AK098371 BM663641 BI754995 BM661553 BU734145 BM685996 F13517 
    BM689577 U79245 BM729069 BI758196 BI823989 BI917742 BM689499 BI822617 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A5 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                          -                                         -                                                                                       
    SP2:                          -                                                                                                                                 
    SP3:        -     -           -                                                                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23a · 23b ^ 24a · 24b ^ 25 ^ 26
    SP1:  -                                 
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for SLC12A5

    (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

    SLC12A5 expression in normal human tissues (normalized intensities)      SLC12A5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC12A5 Expression
    About this image


    SLC12A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Globus Pallidus   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Superior Cervical Ganglion   
     
     Eye (Sensory Organs)

    See SLC12A5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC12A5

    SOURCE GeneReport for Unigene cluster: Hs.21413

    UniProtKB/Swiss-Prot: S12A5_HUMAN, Q9H2X9
    Tissue specificity: Brain specific. Detected in neuronal cells

        SABiosciences Expression via Pathway-Focused PCR Array including SLC12A5: 
              Neuronal Ion Channels in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC12A5 gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc12a51 , 5 solute carrier family 12, member 51, 5 90.91(n)1
    98.83(a)1
      2 (85.28 cM)5
    571381  NM_020333.21  NP_065066.21 
     1649608165 
    chicken
    (Gallus gallus)
    Aves SLC12A51 solute carrier family 12 (potassium/chloride transporter), more 84.95(n)
    94.06(a)
      777252  XM_001236721.2  XP_001236722.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A56
    Uncharacterized protein
    87(a)
    1 ↔ 1
    GL343741.1(2308-67542)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5722151 solute carrier family 12 member 5-like 74.06(n)
    78.72(a)
      572215  XM_695908.4  XP_701000.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta kcc6
    kazachoc
    52(a)
    1 → many
    2R(19795651-19812619)
    worm
    (Caenorhabditis elegans)
    Secernentea H16O14.13   -- 45(a)
    (best of 3)
      IV(6065705-6074152)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YBR235W6
    Putative ion transporter, similar to mammalian ele...
    20(a)
    1 → many
    II(686901-690263)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CCC11 cation-chloride co-transporter 1 48.45(n)
    40.05(a)
      839924  NM_102781.2  NP_174333.2 
    rice
    (Oryza sativa)
    Liliopsida Os08g03237001 hypothetical protein 45.9(n)
    29.97(a)
      4345272  NM_001068078.1  NP_001061543.1 


    ENSEMBL Gene Tree for SLC12A5 (if available)
    TreeFam Gene Tree for SLC12A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC12A5 gene
    SLC12A72  SLC12A82  SLC12A12  SLC12A42  SLC12A32  SLC12A92  SLC12A22  SLC12A62  
    9 SIMAP similar genes for SLC12A5 using alignment to 12 protein entries:     S12A5_HUMAN (see all proteins):
    SLC12A7    SLC12A4    DKFZp686O1827    SLC12A6    SLC12A9    SLC12A3
    SLC12A8    SLC12A1    SLC12A2

    SLC12A5 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) 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

    10/870 SNPs in SLC12A5 are shown (see all 870)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365574
    A colorectal cancer sample4--see VAR_0365572 G D mis40--------
    rs32226151,2
    C--44623297(-) ACACA-/CA    
       
    /CACA
    GCCTC
    1 -- int10--------
    rs568866231,2
    C--44623326(+) TGTGT-/GT    
       
    /GTGT
    CTTGT
    1 -- int10--------
    rs1453936441,2
    --44623420(+) AGCACA/GTTGAA 1 -- int10--------
    rs48129841,2
    C,F--44623452(+) TCTGTG/ATCTAT 1 -- int12Minor allele frequency- A:0.04NA EA 240
    rs1866995451,2
    --44623557(+) CAAGCA/TCCTCC 1 -- int10--------
    rs773627241,2
    C--44623580(+) CACTG-/TATGGGG 1 -- int10--------
    rs60942381,2
    C,F,A,H--44623624(+) ATCTGC/GTGGTA 1 -- int113Minor allele frequency- G:0.42NS EA NA WA CSA 781
    rs61309981,2
    C,F,A,H--44623636(+) CTTTCC/TCATAG 1 -- int116Minor allele frequency- T:0.23EA NS NA WA CSA 1028
    rs1486150671,2
    --44623654(+) TGTGTC/TAGCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC12A5 (44650329 - 44688789 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC12A5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833991CNV Loss17160897

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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.)
    About This Section
    OMIM gene information: 606726    OMIM disorders: --

    10 diseases for SLC12A5:    About MalaCards
    hypothalamic hamartomas    gitelman syndrome    temporal lobe epilepsy    neuronitis
    neurologic diseases    cleft lip    brain injury    retinitis
    cervicitis    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for SLC12A5:
    Gitelman syndrome

    SLC12A5 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SLC12A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 54.6 9 16709666 (2), 17284302 (2), 17207578 (1), 17910576 (1) (see all 6)
    dysplasia 0 3 17284302 (2), 17207578 (1)

    Genetic Association Database (GAD): SLC12A5
    Human Genome Epidemiology (HuGE) Navigator: SLC12A5 (5 documents)

    Export disorders for SLC12A5 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)
    About This Section

    PubMed articles for SLC12A5 gene, integrated from 9 sources (see all 113):
    (articles sorted by number of sources associating them with SLC12A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PubMed id 18602983)1, 4, 9 Bento J.L....Mychaleckyj J.C. (2008)
    2. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (2011)
    3. Analysis of candidate genes on chromosome 20q12-13.1 reveals evidence for BMI mediated association of PREX1 with type 2 diabetes in European Americans. (PubMed id 20650312)1, 4 Lewis J.P....Bowden D.W. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (2008)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1, 2 Kimura K.... Sugano S. (2006)
    7. Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter. (PubMed id 12106695)1, 2 Song L.... Mount D.B. (2002)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    10. A C-terminal domain in KCC2 confers constitutive K+-Cl- cotransport. (PubMed id 16291749)1, 9 Mercado A....Mount D.B. (2006)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57468 HGNC: 13818 AceView: SLC12A5 Ensembl:ENSG00000124140 euGenes: HUgn57468
    ECgene: SLC12A5 Kegg: 57468 H-InvDB: SLC12A5

    (According to HUGE)
    About This Section
    HUGE: KIAA1176

    (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 SLC12A5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC12A5 gene:
    Search GeneIP for patents involving SLC12A5

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



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