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SLC12A4 Gene

protein-coding   GIFtS: 63
GCID: GC16M067979

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)
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Aliases
Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 41 2     CTC-479C5.172
KCC12 3 5     Potassium/Chloride Cotransporter 12
Electroneutral Potassium-Chloride Cotransporter 12 3     Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 42
Erythroid K-Cl Cotransporter 12 3     Solute Carrier Family 12 Member 42
hKCC12 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC12A4 Gene:
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)

GeneCards Summary for SLC12A4 Gene:
SLC12A4 (solute carrier family 12 (potassium/chloride transporter), member 4) is a protein-coding gene. Diseases associated with SLC12A4 include sickle cell disease, and cervical cancer. GO annotations related to this gene include potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.

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) 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_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for SLC12A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: 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
Sequence caution: Sequence=AAC35282.1; Type=Frameshift; Positions=454; Sequence=BAG57330.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DF69 B4DR04 B4DZ82 B7ZAV0 F5H066 F5H0S9 F5H3C0 O60632 O75893 Q13953
Q96LD5
Alternative splicing: 7 isoforms:  Q9UP95-1   Q9UP95-2   Q9UP95-3   Q9UP95-4   Q9UP95-5   Q9UP95-6   Q9UP95-7   (No experimental confirmation available)

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

Explore proteomics data for SLC12A4 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Ubiquitination2 at Lys85, Lys535, Lys707
  • Glycosylation2 at Asn245, Asn312, Asn331, Asn347, Asn439
  • Modification sites at PhosphoSitePlus

  • See SLC12A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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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    (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 1
    SLC12 family of cation-coupled chloride transporters

    5 InterPro protein domains:
     IPR004842 Na/K/Cl_cotransptS
     IPR000622 K/Cl_cotranspt1
     IPR000076 KCL_cotranspt
     IPR004841 AA-permease/SLC12A_dom
     IPR018491 K/Cl_cotranspt_1/3

    Graphical View of Domain Structure for InterPro Entry Q9UP95

    ProtoNet protein and cluster: Q9UP95

    2 Blocks protein domains:
    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


    SLC12A4 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: 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): 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 IEA--
         
    SLC12A4 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC12A4
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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
    SwitchGear 3'UTR luciferase reporter plasmidSLC12A4 3' UTR sequence
    Inhib. RNA
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    (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
    S12A4_HUMAN, Q9UP95: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8663127
    GO:0016020membrane TAS8663127
    GO:0016021integral component of membrane ----

    SLC12A4 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 SLC12A4 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC12A4
        Cation-coupled Chloride cotransporters



    SLC12A4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC12A4
    Interactions:

        GeneGlobe Interaction Network for SLC12A4

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 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
    --ENSP000001954194STRING: ENSP00000195419
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8663127
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport IEA--
    GO:0006821chloride transport TAS8663127
    GO:0006884cell volume homeostasis TAS9516379

    SLC12A4 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 

    Browse Tocris compounds for SLC12A4 (S12A4)

    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

    1 IUPHAR Ligand for SLC12A4 (K-Cl cotransporter 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    DIOA
    InhibitorInhibition--

    6 Novoseek inferred 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)



    SLC12A4 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 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
    Selected 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 mRNA 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 

    Selected AceView cDNA sequences (see all 205):

    BM699873 BQ068133 CA440867 BC021193 BI820410 BM692527 BU737613 AF054505 
    F08392 C01040 H41220 BX109752 AA831103 BM830708 NM_005072 BC014781 
    BM921605 BE253319 BM932010 CA395804 AA452982 AI361457 AF047338 BP379463 

    GeneLoc Exon Structure

    Selected 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™, 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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    SLC12A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTCCTCG
    SLC12A4 Expression
    About this image


    SLC12A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Lung (Respiratory System)
             Basal Cells Trachea
    SLC12A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC12A4 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC12A4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc12a41 , 5 solute carrier family 12, member 41, 5 89.16(n)1
    96.22(a)1
      8 (53.06 cM)5
    204981  NM_001253804.11  NP_001240733.11 
     1059435905 
    chicken
    (Gallus gallus)
    Aves SLC12A41 solute carrier family 12 (potassium/chloride transporters), more 73.36(n)
    85.35(a)
      415715  XM_003641916.2  XP_003641964.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A46
    solute carrier family 12 (potassium/chloride trans...
    85(a)
    1 ↔ 1
    LGc(6102465-6188435)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004934711 solute carrier family 12 member 4-like 71.32(n)
    82.62(a)
      100493471  XM_002942670.2  XP_002942716.1 
    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 59.49(n)
    58.06(a)
      37800  NM_166630.1  NP_726377.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H16O14.13
    kcc-21
    kcc-21 48(a)
    (best of 3)3
    52.78(n)1
    51.26(a)1
      IV(6065705-6074152)3
    1773701  NM_001268351.11  NP_001255280.11 


    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)
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    Paralogs for SLC12A4 gene
    SLC12A72  SLC12A32  SLC12A92  SLC12A62  SLC12A22  SLC12A82  SLC12A12  SLC12A52  
    6 SIMAP similar genes for SLC12A4 using alignment to 7 protein entries:     S12A4_HUMAN (see all proteins):
    DKFZp686O1827    SLC12A6    SLC12A5    SLC12A7    SLC12A9    SLC12A8

    SLC12A4 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 SLC12A4 (see all 573)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1126863661,2
    C,F--67987037(+) GCTCAC/TGCCTA 5 -- int11Minor allele frequency- T:0.50WA 2
    rs1999279601,2
    C--67990739(+) ATATA-/AC    
       
    /TATA
    CAATT
    5 -- int10--------
    rs113834511,2
    C--67999215(+) GTGACA/-AAAAA 5 -- int1 us2k11Minor allele frequency- -:0.00CSA 2
    rs1139735851,2
    C,F--68004215(+) ATCCCG/AGAACT 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs2003172961,2
    --68983375(+) TGGAGC/GACATG 5 -- ds50010--------
    rs793748571,2
    C--68983586(+) CCCCCC/GTGACC 5 -- ds50010--------
    rs795319821,2
    C--68983589(+) CCGTGA/GCCCTT 5 -- ds50010--------
    rs172403711,2
    C,F--68983600(-) GTGACG/AGGGGT 5 -- ds50012Minor allele frequency- A:0.03NS 92
    rs172873341,2
    F--68983606(-) TCTGGG/AGTGAC 5 -- ds50011Minor allele frequency- A:0.03--142
    rs1449222621,2
    --68983777(+) AAGGCC/TGCTGA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC12A4 (67977377 - 68003504 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC12A4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv906816CNV Loss21882294
    nsv524363CNV Loss19592680
    nsv906815CNV Loss21882294
    nsv522852CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SLC12A4
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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: 604119    OMIM disorders: --

    6 diseases for SLC12A4:    
    About MalaCards
    sickle cell disease    cervical cancer    cervicitis    ovarian cancer
    malaria    neuronitis


    SLC12A4 for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): SLC12A4
    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)
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    PubMed articles for SLC12A4 gene, integrated from 10 sources (see all 62):
    (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 (J. Biol. Chem. 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. (Am. J. Physiol. 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. (Blood Cells Mol. Dis. 1998)
    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. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. The role of potassium chloride cotransporters in murine and human sperm volume regulation. (PubMed id 16943364)1, 7 Klein T....Yeung C.H. (Biol. Reprod. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 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: 6560 HGNC: 10913 AceView: LCATandSLC12A4 Ensembl:ENSG00000124067 euGenes: HUgn6560
    ECgene: SLC12A4 H-InvDB: SLC12A4

    (According to HUGE)
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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)
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    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.)
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    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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