Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SLC12A3 Gene

protein-coding   GIFtS: 64
GCID: GC16P056899

solute carrier family 12 (sodium/chloride transporters),...
 Explore 37 diseases affiliated with
SLC12A3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC12A3    

Aliases
for SLC12A3 gene

(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 (Sodium/Chloride Transporters), Member 31 2     Na-Cl Cotransporter2 3
NCCT1 2 5     Na-Cl Symporter2 3
TSC2 3 5     NaCl Electroneutral Thiazide-Sensitive Cotransporter2
Thiazide-Sensitive Sodium-Chloride Cotransporter2 3     Solute Carrier Family 12 Member 32
NCC2 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


Summaries
for SLC12A3 gene

(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 SLC12A3:
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)

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)


Genomic Views
for SLC12A3 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 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 SLC12A3 gene promoter:
         TBP   GR   USF1   GR-beta   RORalpha1   E2F-1   E2F   USF-1   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC12A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC12A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC12A3 gene

(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: S12A3_HUMAN, P55017 (See protein sequence)
Recommended Name: Solute carrier family 12 member 3  
Size: 1021 amino acids; 113139 Da
Subunit: Interacts with KLHL3
Subcellular location: Cell membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • Ubiquitinated; ubiquitination is essential for regulation of endocytosis (By similarity). May be ubiquitinated by the
    • BCR(KLHL3) complex1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55017

    • SLC12A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000457552   ENSP00000402152   ENSP00000456149   ENSP00000262502  
    Reactome Protein details: P55017
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: SLC12A3
    OriGene Custom Protein Services for SLC12A3 
    GenScript Custom Purified and Recombinant Proteins Services for SLC12A3
    Novus Biologicals SLC12A3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC12A3

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8670281
    GO:0016020membrane TAS8670281


    SLC12A3 for ontologies           About GeneDecksing



    SLC12A3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC12A3
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SLC12A3 
    GenScript Custom Superior Antibodies Services for SLC12A3
    Novus Biologicals SLC12A3 Antibodies
    Search for Antibodies for SLC12A3 at Abcam  
    Uscn Antibodies for SLC12A3
    Search ThermoFisher Antibodies for SLC12A3

    Assay Products for SLC12A3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC12A3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SLC12A3

    Protein Domains /
    Families
    for SLC12A3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC12A3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR004841 AA-permease_dom
     IPR004842 Na/K/Cl_cotransptS
     IPR002948 NaCl_cotranspt
     IPR013612 AA_permease_N

    Graphical View of Domain Structure for InterPro Entry P55017

    ProtoNet protein and cluster: P55017

    2 Blocks protein families:
    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


    Function
    for SLC12A3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Enzyme regulation: Activated by WNK3

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

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC12A3
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC12A3:
    hsa-miR-3136-5p hsa-miR-551b* hsa-miR-548u hsa-miR-664 hsa-miR-493
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC12A3 (see all 7)
    OriGene shRNA RFP: SLC12A3
    OriGene siRNA: SLC12A3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC12A3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLC12A3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A3 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A3 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC12A3 (NM_001126107)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC12A3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC12A3 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SLC12A3
    Search LifeMap BioReagents cell lines for SLC12A3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A3

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ISS--
    GO:0005515protein binding IPI--
    GO:0015081sodium ion transmembrane transporter activity ----
    GO:0015378sodium:chloride symporter activity TAS8528245


    SLC12A3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc12a3tm1Ges for SLC12A3
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc12a3):
     cardiovascular system  homeostasis/metabolism  renal/urinary system 

    SLC12A3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC12A3 gene

    (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
    2Diuretics Pathway, Pharmacodynamics
    		Diuretics Pathway, Pharmacodynamics1.00
    3Cation-coupled Chloride cotransporters
    		Cation-coupled Chloride cotransporters1.00
    4Amino acid and oligopeptide SLC transporters
    		Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    		Aldosterone Signaling in Epithelial Cells0.47

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    4        Reactome Pathways for SLC12A3
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Cation-coupled Chloride cotransporters
    Transport of inorganic cations/anions and amino acids/oligopeptides

    1 PharmGKB Pathway for SLC12A3
        Diuretics Pathway, Pharmacodynamics


    SLC12A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC12A3

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

    4 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
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8670281
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ISS--
    GO:0006821chloride transport ----
    GO:0035725sodium ion transmembrane transport ISS--


    SLC12A3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC12A3 gene

    (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

    SLC12A3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC12A3

    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

    10/15 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SLC12A3 / S12A3 

    Transcripts
    for SLC12A3 gene

    (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, 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 SLC12A3 gene (3 alternative transcripts): 
    NM_000339.2  NM_001126107.1  NM_001126108.1  

    Unigene Cluster for SLC12A3:

    Solute carrier family 12 (sodium/chloride transporters), member 3
    Hs.669115  [show with all ESTs]
    Unigene Representative Sequence: NM_000339
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566786 ENST00000438926(uc010ccm.3 uc002ekd.4 uc010ccn.3)
    ENST00000563236 ENST00000262502 ENST00000569002 ENST00000563352

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC12A3
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC12A3:
    hsa-miR-3136-5p hsa-miR-551b* hsa-miR-548u hsa-miR-664 hsa-miR-493
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC12A3 (see all 7)
    OriGene shRNA RFP: SLC12A3
    OriGene siRNA: SLC12A3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC12A3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A3 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A3 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC12A3 (NM_001126107)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC12A3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC12A3 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC12A3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC12A3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC12A3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC12A3

    Additional cDNA sequence: 

    AK223133.1 AK315298.1 U44128.1 X91220.1 

    7 DOTS entries:

    DT.75102287  DT.102840068  DT.302780  DT.100735630  DT.91742639  DT.95367411  DT.96086735 

    24/33 AceView cDNA sequences (see all 33):

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

    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

    Expression
    for SLC12A3 gene

    (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

    SLC12A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACACATTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC12A3 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)
    KidneyDistal TubuleDistal Tubule CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Adult human kidney epithelial cells (Primary Cell)Kidney
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney

    See SLC12A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC12A3

    SOURCE GeneReport for Unigene cluster: Hs.669115

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

        SABiosciences Custom PCR Arrays for SLC12A3
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC12A3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC12A3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC12A3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC12A3
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A3

    Orthologs
    for SLC12A3 gene

    (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 animals.

    Orthologs for SLC12A3 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC12A31 solute carrier family 12 (sodium/chloride transporters), more 77.71(n)
    78.93(a)    		   415692  XM_414059.3  XP_414059.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC12A36
    --
    (see all 3)    		 --
    		 78(a)
    65(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 GL343675.1(293720-309355)
    GL344547.1(6864-28631)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.251602 Xenopus laevis transcribed sequence with weak similarity more 72.35(n)    CB198617.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufj83c032 Transcribed sequence with moderate similarity to protein more 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
    		 Uncharacterized amino-acid permease B0303.11
    		 33(a)
    21(a)
    		 1 ↔ many
    possible ortholog
    		 IV(14107708-14116009)
    III(8703226-8710031)


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

    Paralogs
    for SLC12A3 gene

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

    SLC12A3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC12A3
    PGOHUM00000248043


    Genomic Variants
    for SLC12A3 gene

    (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

    10/1269 NCBI SNPs in SLC12A3 are shown (see all 1269)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289363881,2
    		Cpathogenic42773573(+) TCTCCC/TGGAGT 6 R W mis1 ese32Minor allele frequency- T:0.00NA 4
    rs289363871,2
    		Cpathogenic42782517(+) TGGCCT/CGCAGC 6 /R /C mis1 ese32Minor allele frequency- C:0.00NA 4
    rs1219093801,2
    		Cpathogenic42789767(+) CTTCCA/G/TCCCGG 9 H R L mis10--------
    rs1219093791,2
    		Cpathogenic42797919(+) TCTCCT/CTGGCC 6 /P /L mis11Minor allele frequency- C:0.00NA 4550
    rs795823661,2
    		--42766640(+) GCCTCC/ACTGCA 3 -- us2k13Minor allele frequency- A:0.07CSA WA EA 240
    rs1120234911,2
    		--42766728(+) AAAATT/CGGGTC 3 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs794334931,2
    		--42766923(+) CGCCTG/CGTCCC 3 -- us2k12Minor allele frequency- C:0.05CSA WA 120
    rs133066891,2
    		C,F,--42768478(+) GCTGGC/GTTTGG 3 -- us2k12Minor allele frequency- G:0.05EA 634
    rs133066901,2
    		C,--42768550(+) CCTCCG/CGCCCT 3 -- us2k17Minor allele frequency- C:0.11MN NA WA EA 1015
    rs339467471,2
    		C--42768551(+) CTCTGG/ACCCTG 3 -- us2k12Minor allele frequency- A:0.01MN 141

    HapMap Linkage Disequilibrium report for SLC12A3 (56899119 - 56949762 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SLC12A3
         2 CNVs: 7119 39182
    Human Gene Mutation Database (HGMD): SLC12A3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC12A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC12A3

    Disorders / Diseases
    for SLC12A3 gene

    (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
    SLC12A3 for disorders           About GeneDecksing

    OMIM gene information: 600968   
    OMIM disorders: 263800  
    UniProtKB/Swiss-Prot: S12A3_HUMAN, P55017
  • Defects in SLC12A3 are the cause of Gitelman syndrome (GS) [MIM:263800]. GS is 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. GS has overlapping features with Bartter syndrome

    20/37 diseases for SLC12A3 (see all 37):    About MalaCards
    gitelman syndrome    hypomagnesemia    hypokalemic periodic paralysis    basilar artery occlusion
    high blood pressure    pseudohypoaldosteronism type ii    pseudohypoaldosteronism    hyperaldosteronism
    paralysis    paresthesia    cerebrovascular accident    ureterolithiasis
    pseudogout    diabetic retinopathy    hypokalemia    hypercalciuria
    essential hypertension    pendred syndrome    bartter disease    dent disease

    6 diseases from the University of Copenhagen DISEASES database for SLC12A3:
    Hypokalemia     Kidney disease     Ureterolithiasis     Cerebrovascular accident
    Hyperaldosteronism     Hypertension

    10/22 Novoseek 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

    Publications
    for SLC12A3 gene

    (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 SLC12A3 gene, integrated from 9 sources (see all 206):
    (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. (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. (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. (2004)
    4. Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. (PubMed id 17654016)1, 2, 9 Fava C.... Melander O. (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. (1998)
    6. 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. (2007)
    7. Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families. (PubMed id 17885550)1, 2, 9 Keszei A.P....Logan A.G. (2007)
    8. Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. (PubMed id 12515852)1, 7, 9 Wilson F.H....Lifton R.P. (2003)
    9. Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans. (PubMed id 11564973)1, 4, 9 Song Y....Ruiz-Opazo N. (2001)
    10. Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. (PubMed id 8954067)1, 2, 9 Takeuchi K....Abe K. (1996)

    External Searches for SLC12A3 gene

    (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)

    Genome Databases showing SLC12A3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6559 HGNC: 10912 AceView: SLC12A3 Ensembl:ENSG00000070915 euGenes: HUgn6559
    ECgene: SLC12A3 H-InvDB: SLC12A3

    Other Databases showing SLC12A3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC12A3 gene

    (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 SLC12A3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC12A3

    Intellectual Property
    for SLC12A3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for SLC12A3 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC12A3
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SLC12A3  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC12A3   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC12A3  
     OriGene Protein Over-expression Lysate for SLC12A3   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SLC12A3   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A3   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC12A3  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC12A3   OriGene Custom Protein Services for SLC12A3  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC12A3
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC12A3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC12A3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC12A3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC12A3
     GenScript Custom Purified and Recombinant Proteins Services for SLC12A3 GenScript cDNA clones with any tag delivered in your preferred vector for SLC12A3
     GenScript Custom Assay Services for SLC12A3 GenScript Custom Superior Antibodies Services for SLC12A3
     GenScript Custom overexpressing Cell Line Services for SLC12A3 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SLC12A3 promoter
     Search Chromatin IP Primers for SLC12A3
     RT2 qPCR Primer Assay in human, mouse, rat SLC12A3
     GNC Network for SLC12A3
     SABiosciences PCR Arrays including human, mouse, rat SLC12A3
     Search Tocris compounds for SLC12A3
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SLC12A3 antibodies
     SLC12A3 lysates
     Search for Antibodies for SLC12A3 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SLC12A3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SLC12A3 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SLC12A3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A3
     Browse SwitchGear 3'UTR luciferase reporter plasmids for SLC12A3
     SwitchGear Promoter luciferase reporter plasmids for SLC12A3
     Search ThermoFisher Antibodies for SLC12A3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC12A3
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      SLC12A3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4