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SLC12A3 Gene

protein-coding   GIFtS: 62
GCID: GC16P056899

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

  See SLC12A3-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 (Sodium/Chloride Transporter), Member 31 2     Na-Cl Symporter2 3
TSC2 3 5     NCCT2 5
Thiazide-Sensitive Sodium-Chloride Cotransporter2 3     NaCl Electroneutral Thiazide-Sensitive Cotransporter2
NCC2 3     Solute Carrier Family 12 Member 32
Na-Cl Cotransporter2 3     Thiazide-Sensitive Na-Cl Cotransporter2

External Ids:    HGNC: 109121   Entrez Gene: 65592   Ensembl: ENSG000000709157   OMIM: 6009685   UniProtKB: P550173   

Export aliases for SLC12A3 gene to outside databases

Previous GC identifers: GC16M047352 GC16P056950 GC16P056633 GC16P056675 GC16P056676 GC16P055456 GC16P042768


(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 SLC12A3 Gene:
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte
homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule.
Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by
hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated
with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating
high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SLC12A3 Gene:
SLC12A3 (solute carrier family 12 (sodium/chloride transporter), member 3) is a protein-coding gene. Diseases associated with SLC12A3 include renal hypertension, and gitelman syndrome. GO annotations related to this gene include transporter activity and sodium:chloride symporter activity. An important paralog of this gene is SLC12A7.

UniProtKB/Swiss-Prot: S12A3_HUMAN, P55017
Function: Key mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant
fraction of renal sodium reabsorption

Gene Wiki entry for SLC12A3 (Sodium-chloride symporter) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the SLC12A3 gene promoter:
         TBP   GR   USF1   GR-beta   RORalpha1   E2F-1   E2F   USF-1   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC12A3 promoter sequence
   Search Chromatin IP Primers for SLC12A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC12A3


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

Entrez Gene cytogenetic band: 16q13   Ensembl cytogenetic band:  16q13   HGNC cytogenetic band: 16q13

SLC12A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC12A3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P056899:  view genomic region     (about GC identifiers)

Start:
56,899,119 bp from pter      End:
56,949,762 bp from pter
Size:
50,644 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S12A3_HUMAN, P55017 (See protein sequence)
Recommended Name: Solute carrier family 12 member 3  
Size: 1021 amino acids; 113139 Da
Subunit: Interacts with KLHL3
Miscellaneous: Target of thiazide diuretics used in the treatment of high blood pressure (PubMed:8528245)
Secondary accessions: A8MSJ2 C9JNN9
Alternative splicing: 3 isoforms:  P55017-1   P55017-2   P55017-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC12A3: NX_P55017

Explore proteomics data for SLC12A3 at MOPED

Post-translational modifications: 

  • Ubiquitinated; ubiquitination is essential for regulation of endocytosis. The BCR(KLHL3) complex was initially
    identified as a candidate ubiquitin ligase for SLC12A3 (PubMed:22406640). However, it was later shown that it is
    not the case1
  • Glycosylation2 at Asn406, Asn426
  • Modification sites at PhosphoSitePlus

  • See SLC12A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000330.2  NP_001119579.1  NP_001119580.1  

    ENSEMBL proteins: 
     ENSP00000457552   ENSP00000402152   ENSP00000456149   ENSP00000262502  
    Reactome Protein details: P55017

    SLC12A3 Human Recombinant Protein Products:

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    antibodies-online proteins for SLC12A3 (5 products) 

     
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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: Na-Cl symporter
    SLC12 family of cation-coupled chloride transporters

    4 InterPro protein domains:
     IPR004842 Na/K/Cl_cotransptS
     IPR013612 AA_permease_N
     IPR004841 AA-permease/SLC12A_dom
     IPR002948 NaCl_cotranspt

    Graphical View of Domain Structure for InterPro Entry P55017

    ProtoNet protein and cluster: P55017

    2 Blocks protein domains:
    IPB002948 Thiazide-sensitive Na-Cl co-transporter signature
    IPB013612 Amino acid permease N-terminal


    UniProtKB/Swiss-Prot: S12A3_HUMAN, P55017
    Similarity: Belongs to the SLC12A transporter family


    Find genes that share domains with SLC12A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: S12A3_HUMAN, P55017
    Function: Key mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant
    fraction of renal sodium reabsorption
    Enzyme regulation: Activated by WNK3

         Genatlas biochemistry entry for SLC12A3:
    solute carrier family 12,member A3,sodium/chloride transporter

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ISS--
    GO:0005515protein binding IPI--
    GO:0015377cation:chloride symporter activity ----
    GO:0015378sodium:chloride symporter activity TAS8528245
         
    Find genes that share ontologies with SLC12A3           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc12a3):
     cardiovascular system  homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with SLC12A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc12a3tm1Ges for SLC12A3

       genOway: Develop your customized and physiologically relevant rodent model for SLC12A3

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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
    S12A3_HUMAN, P55017: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8670281
    GO:0016020membrane TAS8670281
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with SLC12A3           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 SLC12A3 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
    2Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Aldosterone Signaling in Epithelial Cells0.47
    3Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics


    Find genes that share SuperPaths with SLC12A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SLC12A3
        Aldosterone Signaling in Epithelial Cells

    1 Reactome Pathway for SLC12A3
        Cation-coupled Chloride cotransporters

    1 PharmGKB Pathway for SLC12A3
        Diuretics Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC12A3
    Interactions:

        GeneGlobe Interaction Network for SLC12A3

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

    5 Interacting proteins for SLC12A3 (P550173 ENSP000002625024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDIA3P301013, ENSP000003002894I2D: score=3 STRING: ENSP00000300289
    WNK4Q96J923, ENSP000002469144I2D: score=1 STRING: ENSP00000246914
    NEDD4P469343, ENSP000003455304I2D: score=1 STRING: ENSP00000345530
    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 TAS8528245
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ISS--
    GO:0006821chloride transport TAS8528245
    GO:0035725sodium ion transmembrane transport ISS--

    Find genes that share ontologies with SLC12A3           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 SLC12A3 (S12A3)

    4 HMDB Compounds for SLC12A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--
    Hydrochlorothiazide3,4-Dihydrochlorothiazide (see all 89)58-93-5--
    SodiumSodium (see all 2)7440-23-5--

    8 DrugBank Compounds for SLC12A3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetinhibitor9596079 16078592 11752352 12772080 9038817 16172412
    ChlorothiazideChlorothiazid (see all 3)58-94-6targetinhibitor11014932 11456284 15069170 12515852 15283765
    QuinethazoneChinetazone [dcit] (see all 5)73-49-4targetinhibitor19636250 19474192 20528637 12538756
    BendroflumethiazideBendrofluazide (see all 9)73-48-3targetinhibitor18216144 10894798 11752352
    Polythiazide-- 346-18-9targetinhibitor10894798 12217863 11752352
    Benzthiazide-- 91-33-8targetinhibitor17139284 17016423
    Diazoxide-- 364-98-7targetunknown17139284 17016423
    MetolazoneMetolazona [INN-Spanish] (see all 2)17560-51-9targetinhibitor11752352

    3 IUPHAR Ligands for SLC12A3 (Na-Cl symporter)    About this table
    LigandTypeActionAffinityPubmed IDs
    hydrochlorothiazide
    InhibitorInhibition--
    chlorothiazide
    InhibitorInhibition--
    metolazone
    InhibitorInhibition--

    Selected Novoseek inferred chemical compound relationships for SLC12A3 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiazide 86.7 60 17975670 (2), 15068971 (2), 8812482 (2), 16370563 (2) (see all 26)
    nacl 76.5 74 16429844 (2), 8865231 (2), 8670281 (2), 9596079 (2) (see all 55)
    chloride 69.2 6 9519207 (1), 11423561 (1), 15915338 (1), 16172412 (1) (see all 6)
    potassium 65.4 8 15300163 (2), 10906158 (1), 9856976 (1), 15866321 (1) (see all 6)
    sodium 59.3 19 16505253 (2), 17885550 (2), 19690383 (1), 14871048 (1) (see all 14)
    furosemide 56.2 1 17460608 (1)
    bumetanide 48.9 3 8663127 (1), 17460608 (1)
    hydrochlorothiazide 47.5 2 17885550 (1), 9856976 (1)
    threonine 25.2 3 19470686 (1), 16075932 (1)
    calcium 25 4 11912242 (1), 9519207 (1), 17656470 (1), 17275579 (1)

    1 PharmGKB related drug/compound annotation for SLC12A3 gene    About this table
    Drug/compound PharmGKB Annotation
    Thiazides, plainCA  



    Find genes that share compounds with SLC12A3           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 SLC12A3 gene (3 alternative transcripts): 
    NM_000339.2  NM_001126107.1  NM_001126108.1  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566786 ENST00000438926(uc010ccm.3 uc002ekd.4 uc010ccn.3)
    ENST00000563236 ENST00000262502 ENST00000569002 ENST00000563352
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    Selected AceView cDNA sequences (see all 33):

    BX094663 AI627943 CD608190 BG428497 BE544258 NM_000339 U44128 BV199044 
    CD608186 AI262776 AL569917 BX951241 AL543208 BX390244 CD608193 BV199234 
    X91220 BI764101 BE544311 BI258072 BV199045 BI253584 BI259266 BX458868 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:                                                                                                                                                        -   
    SP2:                                                                                                                                -                       -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24b ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c
    SP1:              -     -                     
    SP2:              -     -                     
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SLC12A3

    (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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    SLC12A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACACATTC
    SLC12A3 Expression
    About this image


    SLC12A3 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
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Distal Tubule Cells Distal Tubule
             Adult human kidney epithelial cells
             Renal proximal tubularlike cells
             kidney ; cells in tubules   
     
     Epithelial Cells
             Distal Tubule Cells Distal Tubule
    SLC12A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC12A3 Protein Expression

    UniProtKB/Swiss-Prot: S12A3_HUMAN, P55017
    Tissue specificity: Predominant in kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC12A3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc12a31 , 5 solute carrier family 12, member 31, 5 87.08(n)1
    91.61(a)1
      8 (46.46 cM)5
    204971  NM_019415.21  NP_062288.21 
     943292085 
    chicken
    (Gallus gallus)
    Aves SLC12A31 solute carrier family 12 (sodium/chloride transporters), member 3 less 77.88(n)
    79.03(a)
      415692  XM_414059.4  XP_414059.4 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A36
    solute carrier family 12 (sodium/chloride transpor...
    78(a)
    1 ↔ 1
    GL343675.1(293720-309399)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.251602 Xenopus laevis transcribed sequence with weak similarity to protein refNP_000330.1 (H.sapiens) solute carrier family 12 (sodium/chloride transporters), member 3; Solute carrier family 12 (sodium/potassium/chloride transporters), [Homo sapiens] less 72.35(n)    CB198617.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj83c032 Transcribed sequence with moderate similarity to protein spP55017 (H.sapiens) TSCC_HUMAN Thiazide-sensitive sodium-chloride cotransporter (NA-CL symporter) less 76.63(n)    CA473950.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:8D8.33 sodium:chloride/potassium:chloride
    symporter
    32(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nkcc-16
    B0303.116
    Protein B0303.11 (B0303.11) mRNA, complete cds
    35(a)
    25(a)
    many ↔ many
    many ↔ many
    IV(14107733-14116034) WBGene00012543
    III(8703305-8710112) WBGene00015131
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative ion transporter, similar to mammalian ele...
    22(a)
    1 → many
    II(686901-690263) YBR235W


    ENSEMBL Gene Tree for SLC12A3 (if available)
    TreeFam Gene Tree for SLC12A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC12A3 gene
    SLC12A72  SLC12A92  SLC12A62  SLC12A22  SLC12A82  SLC12A12  SLC12A42  SLC12A52  
    6 SIMAP similar genes for SLC12A3 using alignment to 3 protein entries:     S12A3_HUMAN (see all proteins):
    SLC12A2    SLC12A1    SLC12A5    SLC12A6    SLC12A8    SLC12A9

    Find genes that share paralogs with SLC12A3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC12A3
    PGOHUM00000248043


    (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 SLC12A3 (see all 1683)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1461583331,2,,4
    CGitelman syndrome (GS)4 --57916573(+) GGTCAA/CGGTGA 6 K T mis10--------
    rs289363881,2,,4
    CGitelman syndrome (GS)4 pathogenic157916930(+) TCTCCC/TGGAGT 6 R W mis1 ese30--------
    rs289363871,2,,4
    CGitelman syndrome (GS)4 pathogenic157925963(+) TGGCCC/TGCAGC 6 R C mis1 ese30--------
    rs1393296161,2,,4
    CGitelman syndrome (GS)4 --57930921(+) TCTCCA/GTGGTC 6 M V mis10--------
    rs2006971791,2,,4
    Gitelman syndrome (GS)4 --57932173(+) ACTACC/TGGTGA 6 R C mis10--------
    rs1400127811,2,,4
    C,FGitelman syndrome (GS)4 --57933176(+) CAGCCC/TCCAGT 6 P L mis12Minor allele frequency- T:0.00NA EU 5781
    rs1389771951,2,,4
    C,FGitelman syndrome (GS)4 --57934777(+) TGGTTG/AGGTTC 6 /R /G mis11Minor allele frequency- A:0.00NA 4552
    rs1859279481,2,,4
    CGitelman syndrome (GS)4 --57941439(+) CTATCA/TCCTTG 6 H L mis10--------
    rs1998491171,2,,4
    CGitelman syndrome (GS)4 --57960176(+) GAAGTG/ACCCCA 6 /Y /C mis11Minor allele frequency- A:0.00EU 1323
    VAR_0395204
    Gitelman syndrome (GS)4--see VAR_0395202 R G mis40--------

    HapMap Linkage Disequilibrium report for SLC12A3 (56899119 - 56949762 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC12A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2871n71CNV Loss21882294
    esv33108CNV Loss17666407
    nsv519897CNV Loss19592680
    nsv526264CNV Loss19592680

    Human Gene Mutation Database (HGMD): SLC12A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC12A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC12A3

    (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.)
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    OMIM gene information: 600968   
    OMIM disorders: 263800  
    UniProtKB/Swiss-Prot: S12A3_HUMAN, P55017
  • Gitelman syndrome (GS) [MIM:263800]: An autosomal recessive disorder characterized by hypokalemic
    alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with
    normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and
    tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms
    of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during
    the life cycle of a given patient. It has overlapping features with Bartter syndrome. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 9 diseases for SLC12A3:    
    About MalaCards
    renal hypertension    gitelman syndrome    paresthesia    basilar artery occlusion
    hypokalemia    ureterolithiasis    pseudohypoaldosteronism type ii    hypokalemic periodic paralysis
    pendred syndrome

    7 diseases from the University of Copenhagen DISEASES database for SLC12A3:
    Hypokalemia     Kidney disease     Ureterolithiasis     Cerebrovascular accident
    Hyperaldosteronism     Basilar artery occlusion     Hypertension

    Find genes that share disorders with SLC12A3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC12A3 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gitelman syndrome 98.8 120 16429844 (3), 8954067 (3), 14675033 (3), 17873326 (3) (see all 65)
    bartters syndrome 94.9 8 8528245 (1), 15980941 (1), 10639822 (1), 11456284 (1) (see all 8)
    hypomagnesemia 93.8 18 16429844 (1), 10639822 (1), 12584272 (1), 17511264 (1) (see all 15)
    metabolic alkalosis 93.7 12 10639822 (1), 17511264 (1), 10616841 (1), 10561140 (1) (see all 10)
    bartter syndrome, classic 93.6 2 16306206 (2)
    renal tubular disorder 89.8 5 16471174 (1), 17511264 (1), 19489442 (1)
    aldosteronism secondary 89.8 1 10639822 (1)
    gordon syndrome 89.3 1 19439027 (1)
    hypokalemia 88.9 15 16429844 (1), 17511264 (1), 10616841 (1), 16075932 (1) (see all 10)
    pseudohypoaldosteronism 84.1 3 15309683 (1)

    Genatlas disease: SLC12A3
    Gitelman syndrome characterized by an hypokalemic alkalosis Bartter-like associated with hypocalciuria and
    hypomagnesemia

    Genetic Association Database (GAD): SLC12A3
    Human Genome Epidemiology (HuGE) Navigator: SLC12A3 (24 documents)

    Export disorders for SLC12A3 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 SLC12A3 gene, integrated from 10 sources (see all 213):
    (articles sorted by number of sources associating them with SLC12A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. (PubMed id 15069170)1, 2, 4, 7, 9 Maki N.... Sawada K. (Nephrol. Dial. Transplant. 2004)
    2. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). (PubMed id 8812482)1, 2, 3, 9 Mastroianni N.... Casari G. (Genomics 1996)
    3. G2736A polymorphism of thiazide-sensitive Na-Cl cotransporter gene predisposes to hypertension in young women. (PubMed id 15480096)1, 4, 9 Matsuo A....Ogihara T. (J. Hypertens. 2004)
    4. Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. (PubMed id 17654016)1, 2, 9 Fava C.... Melander O. (DNA Seq. 2007)
    5. Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport. (PubMed id 9596079)1, 7, 9 Abuladze N....Kurtz I. (J. Am. Soc. Nephrol. 1998)
    6. [Mutational analysis of a thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in a Japanese population--the Iwaki Health Promotion Project]. (PubMed id 19489442)1, 4, 9 Yasujima M. and Tsutaya S. (Rinsho Byori 2009)
    7. Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. (PubMed id 17873326)1, 2, 9 Aoi N.... Matsumoto K. (Endocrine 2007)
    8. SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. (PubMed id 16505253)1, 4, 9 Kim J.H....Park K.S. (Diabetes 2006)
    9. Genetic variation at the SLC12A3 locus is unlikely to explain risk for advanced diabetic nephropathy in Caucasians with type 2 diabetes. (PubMed id 18263927)1, 4, 9 Ng D.P....Krolewski A.S. (Nephrol. Dial. Transplant. 2008)
    10. Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families. (PubMed id 17885550)1, 2, 9 Keszei A.P....Logan A.G. (J. Hypertens. 2007)

    (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: 6559 HGNC: 10912 AceView: SLC12A3 Ensembl:ENSG00000070915 euGenes: HUgn6559
    ECgene: SLC12A3 H-InvDB: SLC12A3

    (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 SLC12A3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC12A3[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 SLC12A3 gene:
    Search GeneIP for patents involving SLC12A3

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



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