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

SLC12A4 Gene

protein-coding   GIFtS: 62
GCID: GC16M067979

solute carrier family 12 (potassium/chloride transporters),...

 Explore 8 diseases affiliated with
SLC12A4 via our new
 Human Malady Compendium 
Biological research products
for SLC12A4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 41 2     HKCC11
KCC11 2 3 5     Potassium/Chloride Cotransporter 12
Electroneutral Potassium-Chloride Cotransporter 12 3     Solute Carrier Family 12 Member 42
Erythroid K-Cl Cotransporter 12 3     

External Ids:    HGNC: 109131   Entrez Gene: 65602   Ensembl: ENSG000001240677   OMIM: 6041195   UniProtKB: Q9UP953   

Export aliases for SLC12A4 gene to outside databases

Previous GC identifers: GC16M058673 GC16M068355 GC16M067713 GC16M067754 GC16M066535 GC16M053850


(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 SLC12A4:
This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of
potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively
spliced transcript variants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jan 2013)

UniProtKB/Swiss-Prot: S12A4_HUMAN, Q9UP95
Function: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to
cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing
epithelia (By similarity). Isoform 4 has no transport activity

Gene Wiki entry for SLC12A4 (Chloride potassium symporter 4)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC12A4 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC12A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC12A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A4


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

SLC12A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC12A4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M067979:  view genomic region     (about GC identifiers)

Start:
67,977,377 bp from pter      End:
68,003,504 bp from pter
Size:
26,128 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S12A4_HUMAN, Q9UP95 (See protein sequence)
Recommended Name: Solute carrier family 12 member 4  
Size: 1085 amino acids; 120650 Da
Subunit: Homomultimer and heteromultimer with other K-Cl cotransporters
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAC35282.1; Type=Frameshift; Positions=454;
Secondary accessions: B4DR04 B4DZ82 B7ZAV0 F5H066 F5H0S9 O60632 O75893 Q13953 Q96LD5
Alternative splicing: 6 isoforms:  Q9UP95-1   Q9UP95-2   Q9UP95-3   Q9UP95-4   Q9UP95-5   Q9UP95-6   (No experimental confirmation available. Ref.3 (BAH14786) sequence is in conflict in position: 4:E->G)

Explore the universe of human proteins at neXtProt for SLC12A4: NX_Q9UP95

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UP95

  • SLC12A4 Protein expression data from MOPED and PaxDb:    About this image 
    SLC12A4 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001139433.1  NP_001139434.1  NP_001139435.1  NP_001139436.1  NP_005063.1  

    ENSEMBL proteins: 
     ENSP00000318557   ENSP00000461403   ENSP00000438334   ENSP00000458902   ENSP00000445962  
     ENSP00000463148   ENSP00000464660   ENSP00000458975   ENSP00000464168   ENSP00000395983  
     ENSP00000343374  
    Reactome Protein details: Q9UP95
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    Uscn Proteins for SLC12A4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8663127
    GO:0016020membrane TAS8663127
    GO:0016021integral to membrane ----

    SLC12A4 for ontologies           About GeneDecksing



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

    SLC12A4 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000622 K/Cl_cotranspt1
     IPR000076 KCL_cotranspt
     IPR004841 AA-permease_dom
     IPR004842 Na/K/Cl_cotransptS
     IPR018491 K/Cl_cotranspt_1/3

    Graphical View of Domain Structure for InterPro Entry Q9UP95

    ProtoNet protein and cluster: Q9UP95

    2 Blocks protein families:
    IPB000076 K-Cl co-transporter signature
    IPB000622 K-Cl co-transporter type 1 (KCC1) signature


    UniProtKB/Swiss-Prot: S12A4_HUMAN, Q9UP95
    Similarity: Belongs to the SLC12A transporter family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S12A4_HUMAN, Q9UP95
    Function: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to
    cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing
    epithelia (By similarity). Isoform 4 has no transport activity
    Enzyme regulation: Inhibited by WNK3

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015379potassium:chloride symporter activity IEA--
         
    SLC12A4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC12A4:
     Decreased influenza A/WSN/33 r 

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transmembrane transport of small molecules0.50
    2Cation-coupled Chloride cotransporters
    Cation-coupled Chloride cotransporters1.00
    3Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SLC12A4
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Cation-coupled Chloride cotransporters
    Transport of inorganic cations/anions and amino acids/oligopeptides



    SLC12A4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC12A4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for SLC12A4 (Q9UP952, 3 ENSP000003185574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61899 I2D: score=3 
    CKBP122773I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8663127
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport IEA--
    GO:0006884cell volume homeostasis TAS9516379
    GO:0055085transmembrane transport TAS--

    SLC12A4 for ontologies           About GeneDecksing



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

    SLC12A4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC12A4

    1 HMDB Compound for SLC12A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    2 DrugBank Compounds for SLC12A4    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
    BumetanideBumetanida [INN-Spanish] (see all 2)28395-03-1targetinhibitor10793196 16807348

    6 Novoseek chemical compound relationships for SLC12A4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-ethylmaleimide 78.9 4 11410710 (1), 9950760 (1), 10564083 (1)
    bumetanide 74.2 2 8663127 (1), 10913127 (1)
    potassium chloride 70.9 5 14976052 (2), 18923037 (1)
    furosemide 61.4 1 10913127 (1)
    calyculin a 57.6 1 10564083 (1)
    potassium 5.91 4 10973789 (1), 16364949 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC12A4 / S12A4 

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

    REFSEQ mRNAs for SLC12A4 gene (5 alternative transcripts): 
    NM_001145961.1  NM_001145962.1  NM_001145963.1  NM_001145964.1  NM_005072.4  

    Unigene Cluster for SLC12A4:

    Solute carrier family 12 (potassium/chloride transporters), member 4
    Hs.10094  [show with all ESTs]
    Unigene Representative Sequence: NM_005072
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000316341 ENST00000572037 ENST00000541864 ENST00000576616(uc002eva.2)
    ENST00000570802 ENST00000537830(uc002evb.2) ENST00000570616 ENST00000575857
    ENST00000573023 ENST00000576513 ENST00000572476 ENST00000574665 ENST00000572766
    ENST00000573702 ENST00000576377 ENST00000571299 ENST00000572010(uc010cew.1)
    ENST00000576462

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    hsa-miR-194* hsa-miR-4307 hsa-miR-24-1* hsa-miR-1205 hsa-miR-24-2* hsa-miR-320e hsa-miR-489 hsa-miR-3121-3p
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    Additional cDNA sequence: 

    AF047338.1 AF053402.1 AK026911.1 AK097808.1 AK124821.1 AK293906.1 AK293956.1 AK299042.1 
    AK302790.1 AK310027.1 AK311073.1 AK316415.1 AY026038.1 BC021193.2 U55054.1 

    20 DOTS entries:

    DT.75157243  DT.100785102  DT.92378138  DT.100841838  DT.95192460  DT.95192461  DT.70102444  DT.102829038 
    DT.120672142  DT.91987825  DT.92431083  DT.100785105  DT.92391473  DT.100785103  DT.100799331  DT.446537 
    DT.120672110  DT.91727543  DT.95258264  DT.95362242 

    24/205 AceView cDNA sequences (see all 205):

    BM830708 BM921605 BC035480 BC021193 CA454853 CD359822 BQ707084 BE253319 
    CA421717 AK097808 BP379463 CA395804 BC014781 H41220 NM_000229 CO247030 
    BU731894 BU733031 AF047338 NM_005072 AA831103 F08392 BM825709 BU617122 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A4 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                      -                     
    SP3:                                                                                                                                      -                     
    SP4:                    -                 -     -                             -                                                                                 
    SP5:                                                                          -                                                                                 

    ExUns: 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c · 14d ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
    SP1:        -                                                                                                                             -                     
    SP2:        -                                                                                                                                                   
    SP3:        -                                                                                                                                                   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for SLC12A4

    (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

    SLC12A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGTTCCTCG
    SLC12A4 Expression
    About this image

    SLC12A4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungTracheaBasal CellsLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC12A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC12A4

    SOURCE GeneReport for Unigene cluster: Hs.10094

    UniProtKB/Swiss-Prot: S12A4_HUMAN, Q9UP95
    Tissue specificity: Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to
    normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell
    disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes

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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 SLC12A4 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC12A41 solute carrier family 12 (potassium/chloride transporters), more 73.46(n)
    85.44(a)
      415715  XM_003641916.1  XP_003641964.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A46
    --
    85(a)
    1 ↔ 1
    LGc(6102720-6152320)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.200572 Transcribed sequence with moderate similarity to protein more 77.79(n)    CF543890.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kcc1 kazachoc 59.65(n)
    58.11(a)
      37800  NM_166631.1  NP_726378.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H16O14.13
    kcc-21
    Protein KCC-21 48(a)
    (best of 3)3
    51.89(n)1
    50.17(a)1
      IV(6065705-6074152)3
    1773701  NM_068509.41  NP_500910.31 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CCC16
    cation-chloride co-transporter 1
    34(a)
    1 → many
    1(10762739-10769532)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    amino acid permease family protein, putative
    33(a)
    32(a)
    many ↔ many
    many ↔ many
    8(14183430-14192706)
    1(11253120-11260660)


    ENSEMBL Gene Tree for SLC12A4 (if available)
    TreeFam Gene Tree for SLC12A4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC12A4 gene
    SLC12A72  SLC12A12  SLC12A52  SLC12A82  SLC12A32  SLC12A92  SLC12A62  SLC12A22  
    6 SIMAP similar genes for SLC12A4 using alignment to 8 protein entries:     S12A4_HUMAN (see all proteins):
    DKFZp686O1827    SLC12A6    SLC12A7    SLC12A5    SLC12A9    SLC12A8

    SLC12A4 for paralogs           About GeneDecksing



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

    10/334 NCBI SNPs in SLC12A4 are shown (see all 334    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017717081,2
    C--67980050(+) CTCTCA/GTCTGC 5 -- int11Minor allele frequency- G:0.00EU 1323
    rs1161851381,2
    C,F--67980089(+) CGCAGC/GAGGAA 10 L syn12Minor allele frequency- G:0.01WA NA 4670
    rs1426059891,2
    C--67980162(+) GGTAGC/TGCTCG 10 H R mis11Minor allele frequency- T:0.00NA 4552
    rs1137589091,2
    C,F--67980268(+) CTGACG/CACCAG 5 -- int12Minor allele frequency- C:0.50CSA 6
    rs2009240171,2
    --67980323(+) CCAGGC/TCCCAG 5 -- int10--------
    rs2002294491,2
    --67980373(+) CCTCGC/TTCTGT 10 N S mis10--------
    rs1438523961,2
    C--67980401(+) GCCCAG/ACACCA 10 /L syn11Minor allele frequency- A:0.00NA 4522
    rs2013206801,2
    --67980456(+) TGGGCC/TAGCCC 10 L syn10--------
    rs1176395981,2
    C--67980911(+) GGTCAG/AGCCCT 10 /L syn11Minor allele frequency- A:0.01EA 120
    rs2006159311,2
    --67980945(+) AAGGTA/GAGGAG 10 L syn10--------

    HapMap Linkage Disequilibrium report for SLC12A4 (67977377 - 68003504 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC12A4: --

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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

    SLC12A4 for disorders           About GeneDecksing

    OMIM gene information: 604119    OMIM disorders: --

    8 diseases for SLC12A4:    About MalaCards
    sickle cell disease    hermaphroditism    endometrial cancer    cervical cancer
    cervicitis    ovarian cancer    cholesterol    neuronitis

    1 Novoseek disease relationship for SLC12A4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sickle cell disease 53.1 2 14976052 (1), 10564083 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC12A4 (4 documents)

    Export disorders for SLC12A4 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 SLC12A4 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with SLC12A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. A new member of the cation-chloride cotransporter family. (PubMed id 8663127)1, 2, 3, 9 Gillen C.M.... Forbush B. III (1996)
    2. Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation. (PubMed id 10564083)1, 2, 9 Su W.... Alper S.L. (1999)
    3. Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells. (PubMed id 9516379)1, 2, 9 Pellegrino C.M.... Schwartz R.S. (1998)
    4. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (2011)
    5. The role of potassium chloride cotransporters in muri ne and human sperm volume regulation. (PubMed id 16943364)1, 7 Klein T....Yeung C.H. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. 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. (2001)
    9. Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter element. (PubMed id 14976052)1, 9 Zhou G.P....Gallagher P.G. (2004)
    10. The up-regulation of KCC1 gene expression in cervical cancer cells by IGF-II through the ERK1/2MAPK and PI3K/AKT pathways and its significance. (PubMed id 19317253)1, 9 Zhang S....Sun X. (2009)

    (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: 6560 HGNC: 10913 AceView: LCATandSLC12A4 Ensembl:ENSG00000124067 euGenes: HUgn6560
    ECgene: SLC12A4 H-InvDB: SLC12A4

    (According to HUGE)
    About This Section
      --

    (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 SLC12A4 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 SLC12A4 gene:
    Search GeneIP for patents involving SLC12A4

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



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