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    SLC26A4 solute carrier family 26 member 4 [ Homo sapiens (human) ]

    Gene ID: 5172, updated on 20-Apr-2017
    Official Symbol
    SLC26A4provided by HGNC
    Official Full Name
    solute carrier family 26 member 4provided by HGNC
    Primary source
    HGNC:HGNC:8818
    See related
    Ensembl:ENSG00000091137 MIM:605646; Vega:OTTHUMG00000154807
    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
    EVA; PDS; DFNB4; TDH2B
    Summary
    Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q22.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (107660635..107717809)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107301080..107358254)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375443 Neighboring gene WW domain binding protein 1-like pseudogene 2 Neighboring gene barrier to autointegration factor 1 pseudogene 5 Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene uncharacterized LOC101927974 Neighboring gene Cbl proto-oncogene like 1 Neighboring gene solute carrier family 26 member 3

    • 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?

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    anion:anion antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    bicarbonate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    iodide transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    oxalate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    secondary active sulfate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    sulfate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    inorganic anion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    iodide transport IEA
    Inferred from Electronic Annotation
    more info
     
    ion transport TAS
    Traceable Author Statement
    more info
     
    oxalate transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory perception of sound TAS
    Traceable Author Statement
    more info
    PubMed 
    sulfate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    sulfate transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    pendrin
    Names
    sodium-independent chloride/iodide transporter
    solute carrier family 26 (anion exchanger), member 4
    truncated solute carrier family 26

    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_008489.1 RefSeqGene

      Range
      5001..62175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000441.1NP_000432.1  pendrin

      See identical proteins and their annotated locations for NP_000432.1

      Status: REVIEWED

      Source sequence(s)
      AF030880
      Consensus CDS
      CCDS5746.1
      UniProtKB/Swiss-Prot
      O43511
      Related
      ENSP00000265715.3, OTTHUMP00000206717, ENST00000265715.7, OTTHUMT00000337148
      Conserved Domains (3) summary
      cd07042
      Location:536722
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      TIGR00815
      Location:70725
      sulP; high affinity sulphate transporter 1
      cl21588
      Location:583654
      Snf7; Snf7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      107660635..107717809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250425.2XP_005250482.1  pendrin isoform X1

      See identical proteins and their annotated locations for XP_005250482.1

      UniProtKB/Swiss-Prot
      O43511
      Conserved Domains (3) summary
      cd07042
      Location:536722
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      TIGR00815
      Location:70725
      sulP; high affinity sulphate transporter 1
      cl21588
      Location:583654
      Snf7; Snf7
    2. XM_017012318.1XP_016867807.1  pendrin isoform X2

    3. XM_006716025.3XP_006716088.1  pendrin isoform X3

      Conserved Domains (1) summary
      pfam00916
      Location:84421
      Sulfate_transp; Sulfate permease family

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      107235048..107292246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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