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

    Gene ID: 23315, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:20728
    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
    NEW
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    Genomic context

    See SLC9A8 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49812828..49892242)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51582354..51661679)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48429365..48508779)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372652 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48385061-48385910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48385911-48386759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48388387-48389025 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:48391876-48392024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48400170-48400693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18069 Neighboring gene RNA, U6 small nuclear 919, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48452608-48453108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48453109-48453609 Neighboring gene RNA, U7 small nuclear 72 pseudogene Neighboring gene GLYR1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18076 Neighboring gene microRNA 12122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48504605-48505416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48505417-48506228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60689 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60693 Neighboring gene Sharpr-MPRA regulatory region 10189 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18077 Neighboring gene uncharacterized LOC105372653 Neighboring gene spermatogenesis associated 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60723 Neighboring gene Sharpr-MPRA regulatory region 9917

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42500, KIAA0939, MGC138418, DKFZp686C03237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 protein binding IPI
    Inferred from Physical Interaction
    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 
    enables sodium:proton antiporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in acrosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proton transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of Golgi lumen acidification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of intracellular pH IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium/hydrogen exchanger 8
    Names
    Na(+)/H(+) exchanger 8
    solute carrier family 9 (sodium/hydrogen exchanger), member 8
    solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8

    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_001260491.2NP_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
      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_015266.3NP_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
      B4DTQ8, Q2M1U9, Q68CZ8, Q9BX15, Q9Y2E8, Q9Y507
      Related
      ENSP00000354966.2, ENST00000361573.3
      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_048537.2 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_048538.2 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_048539.2 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_048540.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      49812828..49892242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528736.3XP_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_011528738.3XP_011527040.1  sodium/hydrogen exchanger 8 isoform X4

      Conserved Domains (1) summary
      cl01133
      Location:60494
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    3. XM_011528741.3XP_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]
    4. XM_006723756.2XP_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]
    5. XM_047440071.1XP_047296027.1  sodium/hydrogen exchanger 8 isoform X10

    6. XM_011528737.2XP_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]
    7. XM_047440070.1XP_047296026.1  sodium/hydrogen exchanger 8 isoform X9

    8. XM_011528740.3XP_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]
    9. XM_017027754.3XP_016883243.1  sodium/hydrogen exchanger 8 isoform X6

    10. XM_047440073.1XP_047296029.1  sodium/hydrogen exchanger 8 isoform X13

    11. XM_011528745.3XP_011527047.1  sodium/hydrogen exchanger 8 isoform X12

      Conserved Domains (1) summary
      cl01133
      Location:60253
      Na_H_Exchanger; Sodium/hydrogen exchanger family
    12. XM_047440069.1XP_047296025.1  sodium/hydrogen exchanger 8 isoform X5

    13. XM_047440072.1XP_047296028.1  sodium/hydrogen exchanger 8 isoform X11

      UniProtKB/TrEMBL
      B7Z3B1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      51582354..51661679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323280.1XP_054179255.1  sodium/hydrogen exchanger 8 isoform X1

    2. XM_054323283.1XP_054179258.1  sodium/hydrogen exchanger 8 isoform X4

    3. XM_054323286.1XP_054179261.1  sodium/hydrogen exchanger 8 isoform X8

    4. XM_054323281.1XP_054179256.1  sodium/hydrogen exchanger 8 isoform X2

    5. XM_054323288.1XP_054179263.1  sodium/hydrogen exchanger 8 isoform X10

    6. XM_054323282.1XP_054179257.1  sodium/hydrogen exchanger 8 isoform X3

    7. XM_054323287.1XP_054179262.1  sodium/hydrogen exchanger 8 isoform X9

    8. XM_054323285.1XP_054179260.1  sodium/hydrogen exchanger 8 isoform X7

    9. XM_054323284.1XP_054179259.1  sodium/hydrogen exchanger 8 isoform X6

    10. XM_054323291.1XP_054179266.1  sodium/hydrogen exchanger 8 isoform X13

    11. XM_054323290.1XP_054179265.1  sodium/hydrogen exchanger 8 isoform X12

    12. XM_054323289.1XP_054179264.1  sodium/hydrogen exchanger 8 isoform X11

      UniProtKB/TrEMBL
      B7Z3B1