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SLC12A9 Gene

protein-coding   GIFtS: 50
GCID: GC07P100424

Solute Carrier Family 12, Member 9

  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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 12, Member 91 2     CCC-Interacting Protein 12 3
Cation-Chloride Cotransporter 62 3     hCCC62 3
Cation-Chloride Cotransporter-Interacting Protein 12 3     Cation-Chloride Cotransporter-Interacting Protein1
Potassium-Chloride Transporter 92 3     Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 92
CCC62 3     Solute Carrier Family 12 Member 92
CIP12 3     hCIP13
WO3.32 3     

External Ids:    HGNC: 174351   Entrez Gene: 569962   Ensembl: ENSG000001468287   UniProtKB: Q9BXP23   
ORGUL members:         

Export aliases for SLC12A9 gene to outside databases

Previous GC identifers: GC07P100047 GC07P100061 GC07P100095 GC07P100290 GC07P095080


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC12A9 Gene:
SLC12A9 (solute carrier family 12, member 9) is a protein-coding gene. Diseases associated with SLC12A9 include gitelman syndrome, and lipoma. GO annotations related to this gene include cation:chloride symporter activity. An important paralog of this gene is SLC12A7.

UniProtKB/Swiss-Prot: S12A9_HUMAN, Q9BXP2
Function: May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and
thus, additional subunits may be required for its function

Gene Wiki entry for SLC12A9 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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC12A9 gene promoter:
         c-Fos   STAT1   p53   AP-1   c-Jun   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): SLC12A9 promoter sequence
   Search Chromatin IP Primers for SLC12A9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC12A9


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

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

SLC12A9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC12A9 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100424:  view genomic region     (about GC identifiers)

Start:
100,424,442 bp from pter      End:
100,464,634 bp from pter
Size:
40,193 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,809,963-99,824,239     

(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: S12A9_HUMAN, Q9BXP2 (See protein sequence)
Recommended Name: Solute carrier family 12 member 9  
Size: 914 amino acids; 96110 Da
Subunit: Interacts with SLC12A1
Secondary accessions: B7Z740 D6W5X0 D6W5X2 F5H8C2 Q9BWL2 Q9BXP1 Q9BYI0 Q9NQR5
Alternative splicing: 4 isoforms:  Q9BXP2-1   Q9BXP2-2   Q9BXP2-3   Q9BXP2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC12A9: NX_Q9BXP2

Explore proteomics data for SLC12A9 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys386
  • Glycosylation2 at Asn228, Asn243
  • Modification sites at PhosphoSitePlus

  • See SLC12A9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001254741.1  NP_001254743.1  NP_064631.2  

    ENSEMBL proteins: 
     ENSP00000401583   ENSP00000406560   ENSP00000413796   ENSP00000275730   ENSP00000410692  
     ENSP00000408571   ENSP00000408301   ENSP00000275729   ENSP00000443702  

    SLC12A9 Human Recombinant Protein Products:

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    Novus Biologicals SLC12A9 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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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: Cation-chloride cotransporter 6
    SLC12 family of cation-coupled chloride transporters

    1 InterPro protein domain:
     IPR004841 AA-permease/SLC12A_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXP2

    ProtoNet protein and cluster: Q9BXP2

    UniProtKB/Swiss-Prot: S12A9_HUMAN, Q9BXP2
    Similarity: Belongs to the SLC12A transporter family


    SLC12A9 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: S12A9_HUMAN, Q9BXP2
    Function: May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and
    thus, additional subunits may be required for its function

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015377cation:chloride symporter activity TAS10871601
         
    SLC12A9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC12A9:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC12A9
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC12A9
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    miRNA
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    Block miRNA regulation of human, mouse, rat SLC12A9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC12A9 (see all 26):
    hsa-miR-142-3p hsa-miR-2052 hsa-miR-4291 hsa-miR-19b-2* hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSLC12A9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC12A9

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    GenScript: all cDNA clones in your preferred vector: SLC12A9 (NM_020246)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A9


    (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
    S12A9_HUMAN, Q9BXP2: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    SLC12A9 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC12A9
    Interactions:

        Search GeneGlobe Interaction Network for SLC12A9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SLC12A9 (Q9BXP23 ENSP000002757304) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CPSF4O956393, ENSP000002924764I2D: score=1 STRING: ENSP00000292476
    ATAD2Q6PL183I2D: score=1 
    ATP6V0A1Q930503I2D: score=1 
    DIAPH1O606103I2D: score=1 
    ELP3Q9H9T33I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006821chloride transport TAS10871601
    GO:0055085transmembrane transport ----
    GO:1902476chloride transmembrane transport TAS10871601

    SLC12A9 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 SLC12A9 (S12A9)



    (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 SLC12A9 gene (3 alternative transcripts): 
    NM_001267812.1  NM_001267814.1  NM_020246.3  

    Unigene Cluster for SLC12A9:

    Solute carrier family 12 (potassium/chloride transporters), member 9
    Hs.521087  [show with all ESTs]
    Unigene Representative Sequence: NM_020246
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461016 ENST00000448342 ENST00000418037 ENST00000415287(uc003uwq.3)
    ENST00000462106 ENST00000354161(uc003uwp.3) ENST00000416675 ENST00000434158
    ENST00000475687(uc003uwr.3) ENST00000467972(uc003uwt.3) ENST00000497958
    ENST00000487651(uc011kki.2 uc003uwv.3) ENST00000475623 ENST00000482184
    ENST00000428758 ENST00000275729(uc003uwo.1) ENST00000540482
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC12A9 (see all 26):
    hsa-miR-142-3p hsa-miR-2052 hsa-miR-4291 hsa-miR-19b-2* hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSLC12A9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC12A9
    Clone
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    GenScript: all cDNA clones in your preferred vector: SLC12A9 (NM_020246)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC12A9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC12A9
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SLC12A9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC12A9
      QuantiTect SYBR Green Assays in human, mouse, rat SLC12A9
      QuantiFast Probe-based Assays in human, mouse, rat SLC12A9

    Additional mRNA sequence: 

    AB033284.1 AF284422.1 AK026624.1 AK128873.1 AK301411.1 BC000154.2 

    15 DOTS entries:

    DT.112471  DT.100779176  DT.97799872  DT.97844443  DT.100779170  DT.121068883  DT.100686167  DT.100779168 
    DT.100701485  DT.102843084  DT.75138336  DT.100686386  DT.121068827  DT.121068881  DT.121068951 

    Selected AceView cDNA sequences (see all 142):

    BU625109 AW340843 CA450385 CR594298 AA037549 CA488831 AA427782 BM791017 
    BF817496 BG107624 BM768253 AI627244 AK024466 BU431433 AW005000 AA825567 
    AW778976 BM829817 BM817744 CA943814 AA300403 BM769085 AK026624 AK024494 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A9 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
    SP1:                                -                             -     -                       -                             -     -                           
    SP2:                                -           -     -     -     -     -                       -                             -     -                           
    SP3:                                                                                            -           -                                                   
    SP4:                                                                                                                                                            
    SP5:                                -     -     -     -     -     -     -                       -                             -     -                           

    ExUns: 15 ^ 16 ^ 17
    SP1:        -         
    SP2:                  
    SP3:        -         
    SP4:        -         
    SP5:                  


    ECgene alternative splicing isoforms for SLC12A9

    (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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    SLC12A9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAAAGAC
    SLC12A9 Expression
    About this image


    SLC12A9 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
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
    SLC12A9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC12A9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521087

    UniProtKB/Swiss-Prot: S12A9_HUMAN, Q9BXP2
    Tissue specificity: Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart

        Custom PCR Arrays for SLC12A9
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    QuantiFast Probe-based Assays in human, mouse, rat SLC12A9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A9

    (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 SLC12A9 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc12a91 , 5 solute carrier family 12 (potassium/chloride transporters), member 9 less1, 5 85.03(n)1
    92.66(a)1
      5 (76.35 cM)5
    837041  NM_031406.31  NP_113583.21 
     1373145585 
    chicken
    (Gallus gallus)
    Aves SLC12A91 solute carrier family 12 (potassium/chloride transporters), member 9 less 64.26(n)
    59.74(a)
      424938  XM_003641791.2  XP_003641839.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC12A96
    solute carrier family 12, member 9
    70(a)
    1 ↔ 1
    GL343939.1(104795-120788)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX773985.12   -- 75.11(n)    BX773985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc12a91 solute carrier family 12 (potassium/chloride transporters), member 9 less 60.94(n)
    60.41(a)
      793341  NM_001128548.1  NP_001122020.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104131 CG10413 50.99(n)
    45.85(a)
      35111  NM_136043.2  NP_609887.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T04B8.51 T04B8.5 48.7(n)
    43.03(a)
      173453  NM_001027134.3  NP_001022305.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YBR235W)4
    VHC11
    Putative ion transporter, similar to mammalian electroneutral Na(+)-(K+)-C1- cotransporter family; YBR235W is not an essential gene less4
    VHC11
    42.76(n)1
    36.89(a)1
      2(686901-690263)4
    8525371, 4  NP_009794.31  NP_009794.14 


    ENSEMBL Gene Tree for SLC12A9 (if available)
    TreeFam Gene Tree for SLC12A9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC12A9 gene
    SLC12A72  SLC12A82  SLC12A12  SLC12A42  SLC12A52  SLC12A32  SLC12A22  SLC12A62  
    10 SIMAP similar genes for SLC12A9 using alignment to 7 protein entries:     S12A9_HUMAN (see all proteins):
    FLJ00009    FLJ00059    FLJ00100    FLJ00379    FLJ00010    SLC12A6
    SLC12A5    SLC12A8    SLC12A4    SLC12A3

    SLC12A9 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 SLC12A9 (see all 457)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105985731,2
    C--100461719(+) ttttt-/T/TT  
            
    ggaca
    3 -- int11NA 2
    rs1823997811,2
    --103754318(+) GTTTTC/GCTCTT 3 -- us2k10--------
    rs1873973321,2
    --103754374(+) CCTCCA/GCCTCC 3 -- us2k10--------
    rs1906861961,2
    --103754380(+) CCTCCC/TGTGTT 3 -- us2k10--------
    rs3143681,2
    C,A--103754391(-) agaatC/Agcttg 3 -- us2k13Minor allele frequency- A:0.17NA CSA 6
    rs1407960621,2
    --103754422(+) AGCTGA/GGATTA 3 -- us2k10--------
    rs1828585771,2
    --103754828(+) AAGAGG/TTGAAC 3 -- us2k10--------
    rs1500790601,2
    C--103754850(+) GGCTGC/GAGTCA 3 -- us2k10--------
    rs1434020301,2
    C--103754972(+) GCTTA-/TAAC  
            
    TAACT
    3 -- us2k10--------
    rs624824611,2
    C,F--103755043(+) CTGGAG/ATGCAG 3 -- us2k12Minor allele frequency- A:0.05NA 122

    HapMap Linkage Disequilibrium report for SLC12A9 (100424442 - 100464634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC12A9:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    nsv5870CNV Insertion18451855
    dgv7403n71CNV Loss21882294
    nsv831073CNV Loss17160897
    dgv7402n71CNV Loss21882294
    dgv2119e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC12A9
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC12A9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    5 diseases for SLC12A9:    
    About MalaCards
    gitelman syndrome    lipoma    coronary heart disease    malaria
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for SLC12A9:
    Gitelman syndrome

    SLC12A9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC12A9
    Human Genome Epidemiology (HuGE) Navigator: SLC12A9 (1 document)

    Export disorders for SLC12A9 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 SLC12A9 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with SLC12A9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. (PubMed id 11239002)1, 2, 3 Wilson M.D.... Koop B.F. (Nucleic Acids Res. 2001)
    2. Cloning and functional characterization of a cation-Cl-cotransporter- interacting protein. (PubMed id 10871601)1, 2, 3 Caron L.... Isenring P. (J. Biol. Chem. 2000)
    3. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (PLoS Genet. 2011)
    4. Genome-wide association analysis identifies multiple loci related to resting heart rate. (PubMed id 20639392)1, 4 Eijgelsheim M....O'Donnell C.J. (Hum. Mol. Genet. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts. (PubMed id 23325410)1 Gagnon K.B. and Delpire E. (Am. J. Physiol., Cell Physiol. 2013)
    7. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. (PubMed id 22990020)1 Huang J....Hamsten A. (Blood 2012)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 56996 HGNC: 17435 AceView: SLC12A9 Ensembl:ENSG00000146828 euGenes: HUgn56996
    ECgene: SLC12A9 H-InvDB: SLC12A9

    (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 SLC12A9 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 SLC12A9 gene:
    Search GeneIP for patents involving SLC12A9

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



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