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

    Gene ID: 5172, updated on 6-Aug-2022

    Summary

    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; AllianceGenome:HGNC:8818
    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]
    Expression
    Restricted expression toward thyroid (RPKM 117.6) See more
    Orthologs
    NEW
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    Genomic context

    See SLC26A4 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107660828..107717809)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108976971..109033936)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107301273..107358254)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene WBP1L pseudogene 2 Neighboring gene BANF1 pseudogene 5 Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3291 Neighboring gene CBLL1 antisense RNA 1 Neighboring gene Cbl proto-oncogene like 1 Neighboring gene solute carrier family 26 member 3 Neighboring gene GFI1 motif-containing MPRA enhancer 278

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bicarbonate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables chloride transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables iodide transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables oxalate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables secondary active sulfate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inorganic anion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in iodide transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in oxalate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sulfate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sulfate transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    pendrin
    Names
    sodium-independent chloride/iodide transporter
    solute carrier family 26 (anion exchanger), member 4

    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.

    Genomic

    1. NG_008489.1 RefSeqGene

      Range
      5194..62175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000441.2NP_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
      O43170, O43511
      Related
      ENSP00000494017.1, ENST00000644269.2
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      107660828..107717809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      108976971..109033936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)