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    Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 [ Mus musculus (house mouse) ]

    Gene ID: 236794, updated on 3-Dec-2024

    Summary

    Official Symbol
    Slc9a6provided by MGI
    Official Full Name
    solute carrier family 9 (sodium/hydrogen exchanger), member 6provided by MGI
    Primary source
    MGI:MGI:2443511
    See related
    Ensembl:ENSMUSG00000060681 AllianceGenome:MGI:2443511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NHE6; NHE-6; mKIAA0267; 3732426M05; 6430520C02Rik
    Summary
    Enables potassium:proton antiporter activity and sodium:proton antiporter activity. Involved in regulation of intracellular pH and regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within several processes, including brain-derived neurotrophic factor receptor signaling pathway; dendritic spine development; and regulation of neurotrophin TRK receptor signaling pathway. Located in several cellular components, including axon; dendrite; and endosome. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and immune system. Used to study Christianson syndrome. Human ortholog(s) of this gene implicated in Christianson syndrome. Orthologous to human SLC9A6 (solute carrier family 9 member A6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E18 (RPKM 21.8), placenta adult (RPKM 16.0) and 26 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Slc9a6 in Genome Data Viewer
    Location:
    X A5- A6; X 30.06 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (55654921..55709590)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (56609556..56664230)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene microRNA 5116 Neighboring gene membrane magnesium transporter 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:53851179-53851288 Neighboring gene predicted gene, 36239 Neighboring gene predicted gene, 39515 Neighboring gene 39S ribosomal protein L30, mitochondrial pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables potassium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sodium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sodium:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within axon extension ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within brain-derived neurotrophic factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within dendrite extension ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of cell polarity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glial cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell activation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron projection morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within proton transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of intracellular pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of intracellular pH ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of neurotrophin TRK receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Schaffer collateral - CA1 synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in axon terminus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axonal spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in recycling endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium/hydrogen exchanger 6
    Names
    Na(+)/H(+) exchanger 6
    sodium/hydrogen exchanger
    solute carrier family 9 member 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001358861.1NP_001345790.1  sodium/hydrogen exchanger 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC048362, AL672085
      UniProtKB/TrEMBL
      Q80U52
      Conserved Domains (1) summary
      TIGR00840
      Location:41531
      b_cpa1; sodium/hydrogen exchanger 3
    2. NM_001419589.1NP_001406518.1  sodium/hydrogen exchanger 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC048362, AL672085
      UniProtKB/TrEMBL
      Q80U52
    3. NM_172780.5NP_766368.2  sodium/hydrogen exchanger 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_766368.2

      Status: VALIDATED

      Source sequence(s)
      AC048362, AL672085
      Consensus CDS
      CCDS40979.1
      UniProtKB/Swiss-Prot
      A1L3P4, Q8BTG0
      UniProtKB/TrEMBL
      Q80U52
      Related
      ENSMUSP00000076922.6, ENSMUST00000077741.12
      Conserved Domains (1) summary
      TIGR00840
      Location:94584
      b_cpa1; sodium/hydrogen exchanger 3

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      55654921..55709590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527980.4XP_006528043.1  sodium/hydrogen exchanger 6 isoform X1

      See identical proteins and their annotated locations for XP_006528043.1

      UniProtKB/TrEMBL
      Q80U52
      Conserved Domains (1) summary
      TIGR00840
      Location:41531
      b_cpa1; sodium/hydrogen exchanger 3
    2. XM_036161923.1XP_036017816.1  sodium/hydrogen exchanger 6 isoform X2

      UniProtKB/TrEMBL
      Q80U52
      Conserved Domains (1) summary
      TIGR00840
      Location:94540
      b_cpa1; sodium/hydrogen exchanger 3