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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
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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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