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    SLC9A9 solute carrier family 9 member A9 [ Homo sapiens (human) ]

    Gene ID: 285195, updated on 7-Oct-2018

    Summary

    Official Symbol
    SLC9A9provided by HGNC
    Official Full Name
    solute carrier family 9 member A9provided by HGNC
    Primary source
    HGNC:HGNC:20653
    See related
    Ensembl:ENSG00000181804 MIM:608396; Vega:OTTHUMG00000159373
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NHE9; AUTS16
    Summary
    This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in lymph node (RPKM 3.2), esophagus (RPKM 3.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See SLC9A9 in Genome Data Viewer
    Location:
    3q24
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (143265222..143848531, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142984063..143567373, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374137 Neighboring gene PBX homeobox 2 pseudogene 1 Neighboring gene SLC9A9 antisense RNA 1 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 47 Neighboring gene ST13, Hsp70 interacting protein pseudogene 15 Neighboring gene ubiquitin domain containing 2 pseudogene Neighboring gene uncharacterized LOC102724120 Neighboring gene ribosomal protein S17 pseudogene 10 Neighboring gene divergent protein kinase domain 2A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autism 16
    MedGen: C3150677 OMIM: 613410 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
    NHGRI GWA Catalog
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    NHGRI GWA Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    NHGRI GWA Catalog
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    NHGRI GWA Catalog
    Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef EIPA, a potent and specific inhibitor of Na+/H+ exchanger activity, significantly inhibits the Nef internalization into M2-macrophages, indicating that Nef is imported by Na+/H+ exchanger (solute carrier family 9, subfamily A) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ35613

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    potassium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sodium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sodium:proton antiporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ion transport TAS
    Traceable Author Statement
    more info
     
    potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sodium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium/hydrogen exchanger 9
    Names
    Na(+)/H(+) exchanger 9
    putative protein product of Nbla00118
    sodium/proton exchanger NHE9
    solute carrier family 9 (sodium/hydrogen exchanger), isoform 9
    solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_017077.1 RefSeqGene

      Range
      5001..588310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173653.3NP_775924.1  sodium/hydrogen exchanger 9

      See identical proteins and their annotated locations for NP_775924.1

      Status: REVIEWED

      Source sequence(s)
      AB089794, AI252807, AL832304, AY254100, DB285312
      Consensus CDS
      CCDS33872.1
      UniProtKB/Swiss-Prot
      Q8IVB4
      Related
      ENSP00000320246.6, OTTHUMP00000215083, ENST00000316549.10, OTTHUMT00000354994
      Conserved Domains (1) summary
      pfam00999
      Location:128486
      Na_H_Exchanger; Sodium/hydrogen exchanger family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      143265222..143848531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006203.1XP_016861692.1  sodium/hydrogen exchanger 9 isoform X2

    2. XM_011512703.3XP_011511005.1  sodium/hydrogen exchanger 9 isoform X3

      Conserved Domains (1) summary
      pfam00999
      Location:2270
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    3. XM_017006202.2XP_016861691.1  sodium/hydrogen exchanger 9 isoform X1

    4. XM_011512704.3XP_011511006.1  sodium/hydrogen exchanger 9 isoform X4

      Conserved Domains (1) summary
      pfam00999
      Location:128334
      Na_H_Exchanger; Sodium/hydrogen exchanger family
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