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

    Gene ID: 5172, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See SLC26A4 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107660828..107717809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108976971..109033936)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107301273..107358254)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26494 Neighboring gene WBP1L pseudogene 2 Neighboring gene BANF1 pseudogene 5 Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene MPRA-validated peak6681 silencer Neighboring gene Sharpr-MPRA regulatory region 3291 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107383176-107383695 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107383696-107384214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26496 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. Chattaraj P, et al. JAMA Otolaryngol Head Neck Surg, 2013 Sep. PMID 24051746
    2. Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. Maciaszczyk K, et al. Neuro Endocrinol Lett, 2008 Feb. PMID 18283249
    3. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. Pera A, et al. Eur J Hum Genet, 2008 Aug. PMID 18285825
    4. Heterogeneity in the processing defect of SLC26A4 mutants. Yoon JS, et al. J Med Genet, 2008 Jul. PMID 18310264
    5. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. Miyagawa M, et al. J Hum Genet, 2014 May. PMID 24599119, Free PMC Article

    See all (330) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
      Title: [Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
    2. SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.
      Title: SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.
    3. Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.
      Title: Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.
    4. Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
      Title: Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
    5. Pendrin: linking acid base to blood pressure.
      Title: Pendrin: linking acid base to blood pressure.
    6. Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
      Title: Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
    7. Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
      Title: Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
    8. The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
      Title: The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
    9. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
      Title: Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
    10. Dispersed DNA variants underlie hearing loss in South Florida's minority population.
      Title: Dispersed DNA variants underlie hearing loss in South Florida's minority population.
    Submit: New GeneRIF Correction See all GeneRIFs (273)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    enables chloride transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chloride transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables chloride:bicarbonate antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride:bicarbonate antiporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables iodide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iodide transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    		  
    Process Evidence Code Pubs
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inorganic anion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in iodide transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_000441.2 → NP_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
      B7Z266, O43170, O43511
      UniProtKB/TrEMBL
      A0A291FIV6
      Related
      ENSP00000494017.1, ENST00000644269.2
      Conserved Domains (3) summary
      cd07042
      Location:536 → 722
      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:70 → 725
      sulP; high affinity sulphate transporter 1
      cl21588
      Location:583 → 654
      Snf7; Snf7

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43511.1 GenPept UniProtKB/Swiss-Prot:O43511

    Gene LinkOut

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