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

SLC9A6 Gene

protein-coding   GIFtS: 65
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
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(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

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

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, and among its related super-pathways are Transmembrane transport of small molecules and Amino acid and oligopeptide SLC transporters. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC9A6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SL9A6_HUMAN, Q92581 (See protein sequence)
Recommended Name: Sodium/hydrogen exchanger 6  
Size: 669 amino acids; 74162 Da
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92581

  • SLC9A6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC9A6 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001036002.1  NP_001171122.1  NP_006350.1  

    ENSEMBL proteins: 
     ENSP00000359735   ENSP00000359732   ENSP00000359729  
    Reactome Protein details: Q92581
    Human Recombinant Protein Products for SLC9A6: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to membrane IEA--
    GO:0031901early endosome membrane TAS--

    SLC9A6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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:
     IPR018422 Cation/H_exchanger_CPA1
     IPR004709 NaH_exchanger
     IPR002090 Na/H_exchanger_6
     IPR006153 Cation/H_exchanger

    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC9A6 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    2Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4PKC-Theta Pathway
    PDGF Pathway0.39
    5Ca-dependent events
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    4        Reactome Pathways for SLC9A6
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Sodium/Proton exchangers
    Transport of inorganic cations/anions and amino acids/oligopeptides

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC9A6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/26 Interacting proteins for SLC9A6 (Q925813 ENSP000003597294) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    COQ7Q998073I2D: score=2 
    MARCH6O603373I2D: score=2 
    PIGKQ926433I2D: score=2 
    SEC11CQ9BY503I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about SLC9A6 / SL9A6

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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

    24/115 AceView cDNA sequences (see all 115):

    AB074255 BM985259 AA693901 BM126099 BM558404 T15484 BQ718774 NM_006359 
    BU621460 AF030409 AA775547 BQ896934 AW160475 AA599702 BQ009024 AI684321 
    BM126387 AW162354 BF903001 BM708307 D87743 BF732582 AL710278 W72963 

    GeneLoc Exon Structure

    5/6 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™, 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

    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


    See SLC9A6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC9A6

    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for SLC9A6 gene from 8/16 species (see all 16)    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), member 6 less1, 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 (sodium/hydrogen exchanger), member 6 less 79.76(n)
    93.09(a)
      422241  XM_420229.3  XP_420229.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC9A66
    Sodium/hydrogen exchanger
    79(a)
    1 ↔ 1
    GL343761.1(21-44014)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.310472 Xenopus laevis transcribed sequence with moderate similarity to protein refNP_006350.1 (H.sapiens) solute carrier family 9 (sodium/hydrogen exchanger), isoform 6 [Homo sapiens] less 81.39(n)    CA987997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc9a6a1 solute carrier family 9 (sodium/hydrogen exchanger), member 6a less 71.39(n)
    79.17(a)
      792983  NM_001098256.2  NP_001091726.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nhe33 sodium:hydrogen antiporter 48(a)   26F6   --
    worm
    (Caenorhabditis elegans)
    Secernentea nhx-56
    Protein NHX-5, isoform a
    39(a)
    1 → many
    X(10576960-10581054)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NHX1(YDR456W)4 Na+/H+ and K+/H+ exchanger, required for intracellular sequestration of Na+ and K+; located in the vacuole and late endosome compartments; required for osmotolerance to acute hypertonic shock and for vacuolar fusion less   --   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
    Paralogs for SLC9A6 gene
    SLC9A32  SLC9A42  SLC9A82  SLC9A12  SLC9A92  SLC9A52  SLC9A22  SLC9A72  
    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) 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

    10/783 SNPs in SLC9A6 are shown (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
    SABiosciences Cancer Mutation 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
    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

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

    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

    PubMed articles for SLC9A6 gene, integrated from 9 sources (see all 28):
    (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. (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. (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. (2002)
    4. Mutation in the SLC9A6 gene is not a frequent cause o f sporadic Angelman-like syndrome. (PubMed id 19471312)1, 4 Fichou Y....Bienvenu T. (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. (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. (1996)
    7. Novel mutation in SLC9A6 gene in a patient with Christ ianson syndrome and retinitis pigmentosum. (PubMed id 22541666)1 Mignot C....Burglen L. (2013)
    8. High capacity Na+/H+ exchange activity in mineralizin g osteoblasts. (PubMed id 21413028)1 Liu L....Blair H.C. (2011)
    9. Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin. (PubMed id 21881004)1 Xinhan L....Kanazawa H. (2011)
    10. A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. (PubMed id 21812100)1 Takahashi Y....Saitoh S. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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
    Entrez Gene: 10479 HGNC: 11079 AceView: SLC9A6 Ensembl:ENSG00000198689 euGenes: HUgn10479
    ECgene: SLC9A6 Kegg: 10479 H-InvDB: SLC9A6

    (According to HUGE)
    About This Section
    HUGE: KIAA0267

    (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 SLC9A6 Pharmacogenomics, SNPs, Pathways

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



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