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    SLC9A8 solute carrier family 9 member A8 [ Homo sapiens (human) ]

    Gene ID: 23315, updated on 20-Feb-2018
    Official Symbol
    SLC9A8provided by HGNC
    Official Full Name
    solute carrier family 9 member A8provided by HGNC
    Primary source
    HGNC:HGNC:20728
    See related
    Ensembl:ENSG00000197818 MIM:612730; Vega:OTTHUMG00000032710
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NHE8; NHE-8
    Summary
    Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.0), testis (RPKM 5.3) and 25 other tissues See more
    Orthologs
    Location:
    20q13.13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (49812713..49892242)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48429250..48508779)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372652 Neighboring gene RNA, U6 small nuclear 919, pseudogene Neighboring gene glyoxylate reductase 1 homolog (Arabidopsis) pseudogene Neighboring gene RNA, U7 small nuclear 72 pseudogene Neighboring gene uncharacterized LOC105372653 Neighboring gene spermatogenesis associated 2

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    NHGRI GWA Catalog

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ42500, KIAA0939, MGC138418, DKFZp686C03237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    potassium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sodium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT sodium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    NOT plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    sodium/hydrogen exchanger 8
    Names
    Na(+)/H(+) exchanger 8
    solute carrier family 9 (sodium/hydrogen exchanger), isoform 8
    solute carrier family 9 (sodium/hydrogen exchanger), member 8
    solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8

    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_001260491.1NP_001247420.1  sodium/hydrogen exchanger 8 isoform 1

      See identical proteins and their annotated locations for NP_001247420.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB023156, AK295822, AK300318, AL049469, AL162615
      Consensus CDS
      CCDS58774.1
      UniProtKB/Swiss-Prot
      Q9Y2E8
      UniProtKB/TrEMBL
      B4DIX7
      Related
      ENSP00000416418.1, ENST00000417961.5
      Conserved Domains (1) summary
      COG0025
      Location:60500
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    2. NM_015266.2NP_056081.1  sodium/hydrogen exchanger 8 isoform 2

      See identical proteins and their annotated locations for NP_056081.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB023156, AL031685, AL049469, AL162615
      Consensus CDS
      CCDS13421.1
      UniProtKB/Swiss-Prot
      Q9Y2E8
      Related
      ENSP00000354966.2, OTTHUMP00000043368, ENST00000361573.2, OTTHUMT00000106483
      Conserved Domains (1) summary
      cl25615
      Location:64542
      NhaP2; NhaP-type Na+/H+ and K+/H+ antiporter with C-terminal TrkAC and CorC domains [Energy production and conversion, Inorganic ion transport and metabolism]

    RNA

    1. NR_048537.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB023156, AK295822, AL049469, AL162615
    2. NR_048538.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB023156, AK295665, AK295822, AL049469, AL162615
    3. NR_048539.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB023156, AK295803, AK295822, AL049469, AL162615
    4. NR_048540.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks four internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB023156, AK308328, AL049469, AL162615

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      49812713..49892242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528736.1XP_011527038.1  sodium/hydrogen exchanger 8 isoform X1

      Conserved Domains (1) summary
      COG0025
      Location:60533
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    2. XM_011528738.1XP_011527040.1  sodium/hydrogen exchanger 8 isoform X4

      Conserved Domains (1) summary
      cl01133
      Location:60494
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    3. XM_011528739.1XP_011527041.1  sodium/hydrogen exchanger 8 isoform X5

      Conserved Domains (1) summary
      COG0025
      Location:60492
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    4. XM_011528741.1XP_011527043.1  sodium/hydrogen exchanger 8 isoform X8

      Conserved Domains (1) summary
      COG0025
      Location:60461
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    5. XM_006723756.1XP_006723819.1  sodium/hydrogen exchanger 8 isoform X2

      Conserved Domains (1) summary
      COG0025
      Location:60517
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    6. XM_011528740.1XP_011527042.1  sodium/hydrogen exchanger 8 isoform X7

      Conserved Domains (1) summary
      COG0025
      Location:60533
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    7. XM_017027754.1XP_016883243.1  sodium/hydrogen exchanger 8 isoform X6

    8. XM_011528745.1XP_011527047.1  sodium/hydrogen exchanger 8 isoform X12

      Conserved Domains (1) summary
      cl01133
      Location:60253
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    9. XM_011528737.1XP_011527039.1  sodium/hydrogen exchanger 8 isoform X3

      Conserved Domains (1) summary
      COG0025
      Location:62505
      NhaP; NhaP-type Na+/H+ or K+/H+ antiporter [Inorganic ion transport and metabolism]
    10. XM_017027756.1XP_016883245.1  sodium/hydrogen exchanger 8 isoform X10

      Conserved Domains (1) summary
      cl01133
      Location:5237
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    11. XM_017027755.1XP_016883244.1  sodium/hydrogen exchanger 8 isoform X9

      Conserved Domains (1) summary
      cl01133
      Location:1298
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    12. XM_011528742.1XP_011527044.1  sodium/hydrogen exchanger 8 isoform X9

      Conserved Domains (1) summary
      cl01133
      Location:1298
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    13. XM_011528743.2XP_011527045.1  sodium/hydrogen exchanger 8 isoform X10

      Conserved Domains (1) summary
      cl01133
      Location:5237
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    14. XM_011528744.2XP_011527046.1  sodium/hydrogen exchanger 8 isoform X11

      Conserved Domains (1) summary
      cl01133
      Location:3207
      Na_H_Exchanger; Sodium/hydrogen exchanger family

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      48333933..48413322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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