Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SLC9A6 Gene

protein-coding   GIFtS: 66
GCID: GC0XP135068

Solute Carrier Family 9, Subfamily A (NHE6, Cation Proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
Microbiology & Infectious Diseases Congress
  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)
About This Section

TryGeneCards Plus

Aliases
Solute Carrier Family 9, Subfamily A (NHE6, Cation Proton Antiporter
6), Member 61 2
     MRSA2
NHE62 3 5     Sodium/Hydrogen Exchanger 62
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 61 2     KIAA02673
Na(+)/H(+) Exchanger 62 3     NHE-63
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 61     Solute Carrier Family 9 Member 63

External Ids:    HGNC: 110791   Entrez Gene: 104792   Ensembl: ENSG000001986897   OMIM: 3002315   UniProtKB: Q925813   

Export aliases for SLC9A6 gene to outside databases

Previous GC identifers: GC0XM129708 GC0XP131913 GC0XP133012 GC0XP133773 GC0XP134793 GC0XP134895 GC0XP124341


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for SLC9A6 Gene:
This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein
localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in
this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing
results in multiple transcript variants.(provided by RefSeq, Apr 2010)

GeneCards Summary for SLC9A6 Gene:
SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6) is a protein-coding gene. Diseases associated with SLC9A6 include slc9a6-related syndromic mental retardation, and christianson syndrome. GO annotations related to this gene include sodium:hydrogen antiporter activity. An important paralog of this gene is SLC9A3.

UniProtKB/Swiss-Prot: SL9A6_HUMAN, Q92581
Function: Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes.
Contributes to calcium homeostasis

Gene Wiki entry for SLC9A6 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC9A6 gene promoter:
         POU6F1 (c2)   LCR-F1   HNF-3beta   Gfi-1   c-Ets-1   MZF-1   AREB6   MEF-2A   STAT3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC9A6 promoter sequence
   Search Chromatin IP Primers for SLC9A6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC9A6


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

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26.3

SLC9A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP135068:  view genomic region     (about GC identifiers)

Start:
135,067,583 bp from pter      End:
135,129,428 bp from pter
Size:
61,846 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SL9A6_HUMAN, Q92581 (See protein sequence)
Recommended Name: Sodium/hydrogen exchanger 6  
Size: 669 amino acids; 74162 Da
Caution: Was originally (PubMed:9507001) identified as a mitochondrial inner membrane protein, but was later shown
to be localized in early and recycling endosomes and not mitochondria (PubMed:11940519)
Secondary accessions: A6NIQ9 A8K160 B4DU30 B7ZAE0 Q3ZCW7 Q5JPP8 Q5JPP9 Q86VS0
Alternative splicing: 3 isoforms:  Q92581-1   Q92581-2   Q92581-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC9A6: NX_Q92581

Explore proteomics data for SLC9A6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys443
  • Glycosylation2 at Asn128
  • Modification sites at PhosphoSitePlus

  • See SLC9A6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001036002.1  NP_001171122.1  NP_006350.1  

    ENSEMBL proteins: 
     ENSP00000359735   ENSP00000359732   ENSP00000359729  
    Reactome Protein details: Q92581

    SLC9A6 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 for SLC9A6
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SLC9A6
    GenScript Custom Purified and Recombinant Proteins Services for SLC9A6
    Novus Biologicals SLC9A6 Proteins
    Novus Biologicals SLC9A6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SLC9A6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SLC9A6
    OriGene Custom Antibody Services for SLC9A6
    Novus Biologicals SLC9A6 Antibodies
    Abcam antibodies for SLC9A6
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SLC9A6
    LSBio Antibodies in human, mouse, rat for SLC9A6

    SLC9A6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLC9A6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC9A6
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    TryGeneCards Plus
    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium/hydrogen exchanger 6
    SLC9 family of sodium/hydrogen exchangers

    4 InterPro protein domains:
     IPR006153 Cation/H_exchanger
     IPR018422 Cation/H_exchanger_CPA1
     IPR004709 NaH_exchanger
     IPR002090 Na/H_exchanger_6

    Graphical View of Domain Structure for InterPro Entry Q92581

    ProtoNet protein and cluster: Q92581

    3 Blocks protein domains:
    IPB002090 Na+/H+ exchanger isoform 6 (NHE6) signature
    IPB004709 Na+/H+ exchanger signature
    IPB006153 Sodium/hydrogen exchanger


    UniProtKB/Swiss-Prot: SL9A6_HUMAN, Q92581
    Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family


    SLC9A6 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SL9A6_HUMAN, Q92581
    Function: Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes.
    Contributes to calcium homeostasis

         Genatlas biochemistry entry for SLC9A6:
    solute carrier protein family 9 (sodium/hydrogen exchange),member 6,ubiquitously expressed but most abundant in
    brain,skeletal muscle,heart,located in the mitochondrial inner membrane

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015299solute:hydrogen antiporter activity ----
    GO:0015385sodium:hydrogen antiporter activity IEA--
         
    SLC9A6 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc9a6):
     behavior/neurological  nervous system 

    SLC9A6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC9A6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC9A6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC9A6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC9A6

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC9A6:
    hsa-mir-93-5p (MIRT048876), hsa-mir-103a-3p (MIRT027197), hsa-mir-21-5p (MIRT030928), hsa-mir-23b-3p (MIRT046279), hsa-mir-16-5p (MIRT031859), hsa-mir-421 (MIRT039396), hsa-mir-31-3p (MIRT038942)

    Block miRNA regulation of human, mouse, rat SLC9A6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC9A6 (see all 45):
    hsa-miR-15a hsa-let-7a-2* hsa-miR-570 hsa-miR-124 hsa-miR-1276 hsa-miR-424 hsa-miR-506 hsa-miR-497*
    SwitchGear 3'UTR luciferase reporter plasmidSLC9A6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC9A6
    Predesigned siRNA for gene silencing in human, mouse, rat SLC9A6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLC9A6

    Clone
    Products:
         
    OriGene clones in human, mouse for SLC9A6 (see all 15)
    OriGene ORF clones in mouse, rat for SLC9A6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC9A6 (NM_001042537)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC9A6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC9A6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLC9A6
    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC9A6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SL9A6_HUMAN, Q92581: Endosome membrane; Multi-pass membrane protein. Note=Is present in the recycling
    compartments including early and recycling endosomes, and only appears transiently on the plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    plasma membrane5
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739NOT mitochondrion IDA11940519
    GO:0005789endoplasmic reticulum membrane IDA11641397
    GO:0005886plasma membrane IDA11940519
    GO:0016021integral component of membrane IEA--
    GO:0031901early endosome membrane TAS--

    SLC9A6 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for SLC9A6 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
    Sodium/Proton exchangers0.00
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3TCR Signaling (Qiagen)
    PDGF Pathway0.39
    4ADP signalling through P2Y purinoceptor 12
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    5Cardiac muscle contraction
    Cardiac muscle contraction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SLC9A6
        Intracellular Calcium Signaling
    PDGF Pathway

    1 Reactome Pathway for SLC9A6
        Sodium/Proton exchangers

    1 PharmGKB Pathway for SLC9A6
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for SLC9A6):
        Cardiac muscle contraction


    SLC9A6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC9A6
    Interactions:

        GeneGlobe Interaction Network for SLC9A6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SLC9A6 (Q925813 ENSP000003597294) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL1P406163, ENSP000002616364I2D: score=1 STRING: ENSP00000261636
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    CRLS1Q9UJA23, ENSP000003681404I2D: score=1 STRING: ENSP00000368140
    RAB6BQ9NRW13, ENSP000002852084I2D: score=1 STRING: ENSP00000285208
    UBA52P629873, ENSP000003881074I2D: score=1 STRING: ENSP00000388107
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9507001
    GO:0006811ion transport TAS--
    GO:0006812cation transport ----
    GO:0006814sodium ion transport ----
    GO:0006885regulation of pH IEA--

    SLC9A6 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)
    About This Section

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

    Browse Tocris compounds for SLC9A6 (SL9A6)

    1 HMDB Compound for SLC9A6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SLC9A6 gene (3 alternative transcripts): 
    NM_001042537.1  NM_001177651.1  NM_006359.2  

    Unigene Cluster for SLC9A6:

    Solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
    Hs.62185  [show with all ESTs]
    Unigene Representative Sequence: NM_001042537
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370701 ENST00000370698(uc004ezj.3) ENST00000370695(uc011mvx.2 uc004ezk.3)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLC9A6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC9A6 (see all 45):
    hsa-miR-15a hsa-let-7a-2* hsa-miR-570 hsa-miR-124 hsa-miR-1276 hsa-miR-424 hsa-miR-506 hsa-miR-497*
    SwitchGear 3'UTR luciferase reporter plasmidSLC9A6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SLC9A6
    Predesigned siRNA for gene silencing in human, mouse, rat SLC9A6
    Clone
    Products:
         
    OriGene clones in human, mouse for SLC9A6 (see all 15)
    OriGene ORF clones in mouse, rat for SLC9A6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC9A6 (NM_001042537)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC9A6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC9A6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC9A6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC9A6
      QuantiTect SYBR Green Assays in human, mouse, rat SLC9A6
      QuantiFast Probe-based Assays in human, mouse, rat SLC9A6

    Additional mRNA sequence: 

    AB074255.1 AF030409.1 AK289775.1 AK296444.1 AK297218.1 AK300475.1 AK314562.1 AK316255.1 
    BC035029.1 BC047375.1 BC049169.1 D87743.1 

    6 DOTS entries:

    DT.97781564  DT.101967894  DT.445500  DT.97773849  DT.121289813  DT.97839629 

    Selected AceView cDNA sequences (see all 115):

    W72963 BF903001 BQ896934 D87743 NM_006359 AB074255 BM699454 AA693901 
    BM985259 AL044744 AW160475 BQ716978 AA775547 BM558404 CK818982 CK818983 
    BU621460 AA913649 AL710278 BM126099 BM126387 BM708307 BQ009024 BF732582 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A6 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC9A6

    (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)
    About This Section

    TryGeneCards Plus

    SLC9A6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAAGTAGA
    SLC9A6 Expression
    About this image

    SLC9A6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC9A6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.62185

    UniProtKB/Swiss-Prot: SL9A6_HUMAN, Q92581
    Tissue specificity: Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle
    and heart

        Custom PCR Arrays for SLC9A6
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC9A6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC9A6
    QuantiTect SYBR Green Assays in human, mouse, rat SLC9A6
    QuantiFast Probe-based Assays in human, mouse, rat SLC9A6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A6

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC9A6 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc9a61 , 5 solute carrier family 9 (sodium/hydrogen exchanger), more1, 5 90.94(n)1
    96.57(a)1
      X (30.06 cM)5
    2367941  NM_172780.31  NP_766368.21 
     566097575 
    chicken
    (Gallus gallus)
    Aves SLC9A61 solute carrier family 9, subfamily A (NHE6, cation more 79.76(n)
    93.09(a)
      422241  XM_420229.4  XP_420229.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC9A66
    solute carrier family 9, subfamily A (NHE6, cation...
    79(a)
    1 ↔ 1
    GL343761.1(21-44014)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.310472 Xenopus laevis transcribed sequence with moderate similarity more 81.39(n)    CA987997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc9a6a1 solute carrier family 9 (sodium/hydrogen exchanger), more 71.29(n)
    79.17(a)
      792983  NM_001098256.2  NP_001091726.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nhe31 , 3 sodium:hydrogen antiporter3
    Na[+]/H[+] hydrogen exchanger 31
    48(a)3
    56.85(n)1
    55.99(a)1
      26F63
    339391  NM_164701.21  NP_723202.21 
    worm
    (Caenorhabditis elegans)
    Secernentea nhx-51 nhx-5 51.06(n)
    44.54(a)
      181258  NM_001029550.2  NP_001024721.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NHX1(YDR456W)4 Na+/H+ and K+/H+ exchanger, required for intracellular more   --   4(1367485-1369386) 852066  NP_010744.1 


    ENSEMBL Gene Tree for SLC9A6 (if available)
    TreeFam Gene Tree for SLC9A6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SLC9A6 gene
    SLC9A32  SLC9A82  SLC9A12  SLC9A92  SLC9A52  SLC9A22  SLC9A72  SLC9A42  
    3 SIMAP similar genes for SLC9A6 using alignment to 1 protein entry:     SL9A6_HUMAN:
    SLC9A7    SLC9A9    SLC9A8

    SLC9A6 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SLC9A6 (see all 783)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37616431,2
    C,F,H--124339353(+) AGAGCA/GTGTGA 3 -- us2k124Minor allele frequency- G:0.85NA NS EA CSA 2552
    rs1896630381,2
    --124339472(+) GCACAC/TCGACT 3 -- us2k10--------
    rs1815006541,2
    --135023985(+) GAAGCA/GATCTG 3 -- us2k10--------
    rs1476352061,2
    --135024125(+) GGATGA/TTGGGG 3 -- us2k10--------
    rs2020125661,2
    --135024585(+) TTGAG-/AAGGAA 3 -- us2k10--------
    rs1856341181,2
    --135024610(+) GGGAAC/TTCATT 3 -- us2k10--------
    rs1128108281,2
    C,F--135024964(+) ATAGGT/GGTCAA 3 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs1892200241,2
    C--135024979(+) GACTTA/CGGAGC 3 -- us2k10--------
    rs128438661,2
    C,H--135025058(+) CAAGAT/CTTTTT 3 -- us2k1 trp34Minor allele frequency- C:0.00NS EA 412
    rs128426011,2
    C,H--135025068(+) TCTTCG/TGGAGG 3 -- us2k1 trp34Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for SLC9A6 (135067583 - 135129428 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC9A6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv785CNV CNV17122850
    essv24688CNV CNV17122850

    Human Gene Mutation Database (HGMD): SLC9A6
    Locus Specific Mutation Databases (LSDB): SLC9A6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC9A6
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC9A6

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 300231   
    OMIM disorders: 300243  
    UniProtKB/Swiss-Prot: SL9A6_HUMAN, Q92581
  • Mental retardation, X-linked, syndromic, Christianson type (MRXSCH) [MIM:300243]: A syndrome
    characterized by profound mental retardation, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap
    with Angelman syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for SLC9A6:    
    About MalaCards
    slc9a6-related syndromic mental retardation    christianson syndrome    leptospirosis    neurologic diseases
    mental retardation    ophthalmoplegia    mental retardation, x-linked    microcephaly
    intellectual disability    angelman syndrome    cystic fibrosis    pneumonia
    ataxia    tuberculosis    multiple myeloma    myeloma
    retinitis

    1 disease from the University of Copenhagen DISEASES database for SLC9A6:
    Angelman syndrome

    SLC9A6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC9A6
    Human Genome Epidemiology (HuGE) Navigator: SLC9A6 (2 documents)

    Export disorders for SLC9A6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for SLC9A6 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with SLC9A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a mitochondrial Na+/H+ exchanger. (PubMed id 9507001)1, 2, 3 Numata M.... Orlowski J. (J. Biol. Chem. 1998)
    2. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. (PubMed id 18342287)1, 2, 9 Gilfillan G.D.... Stromme P. (Am. J. Hum. Genet. 2008)
    3. Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria. (PubMed id 11940519)1, 2, 9 Brett C.L.... Rao R. (Am. J. Physiol. 2002)
    4. Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. (PubMed id 19471312)1, 4 Fichou Y....Bienvenu T. (Eur. J. Hum. Genet. 2009)
    5. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    6. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T.... Nomura N. (DNA Res. 1996)
    7. Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. (PubMed id 22541666)1 Mignot C....Burglen L. (amp 2013)
    8. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. (PubMed id 24123876)2 Schuurs-Hoeijmakers J.H.... de Brouwer A.P. (J. Med. Genet. 2013)
    9. Novel SLC9A6 mutations in two families with Christianson syndrome. (PubMed id 22931061)1 Riess A....Tzschach A. (Clin. Genet. 2013)
    10. Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin. (PubMed id 21881004)1 Xinhan L....Kanazawa H. (Am. J. Physiol., Cell Physiol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10479 HGNC: 11079 AceView: SLC9A6 Ensembl:ENSG00000198689 euGenes: HUgn10479
    ECgene: SLC9A6 Kegg: 10479 H-InvDB: SLC9A6

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0267

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SLC9A6 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for SLC9A6 gene:
    Search GeneIP for patents involving SLC9A6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     cDNA Clones for SLC9A6 (NHE6/SLC9A6)   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SLC9A6   OriGene RNAi products in human, mouse, rat for SLC9A6  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SLC9A6  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SLC9A6  
     OriGene qSTAR qPCR primer pairs in human, mouse for SLC9A6   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SLC9A6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC9A6   OriGene Custom Protein Services for SLC9A6  

     
     
     Block miRNA regulation of human, mouse, rat SLC9A6 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SLC9A6
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC9A6 Predesigned siRNA for gene silencing in human, mouse, rat SLC9A6
     QuantiFast Probe-based Assays in human, mouse, rat SLC9A6 QuantiTect SYBR Green Assays in human, mouse, rat SLC9A6
     Custom PCR Arrays for SLC9A6 Search Chromatin IP Primers for SLC9A6
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC9A6  GeneGlobe Interaction Network for SLC9A6
     Regulatory tfbs in SLC9A6 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SLC9A6 GenScript cDNA clones with any tag delivered in your preferred vector for SLC9A6
     GenScript Custom Assay Services for SLC9A6 GenScript Custom overexpressing Cell Line Services for SLC9A6
     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

     Search Tocris compounds for SLC9A6 (SL9A6)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SLC9A6 antibodies
     SLC9A6 proteins
     SLC9A6 lysates
     Antibodies for SLC9A6
     See all of Abcam's Antibodies, Kits and Proteins for SLC9A6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for SLC9A6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A6
     SwitchGear 3'UTR luciferase reporter plasmids for SLC9A6
     SwitchGear Promoter luciferase reporter plasmids for SLC9A6
     Search ThermoFisher Antibodies for SLC9A6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC9A6
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC9A6
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC9A6
     LSBio Antibodies in human, mouse, rat for SLC9A6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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

    Hot genes      Disease genes      SLC9A6 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4