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

Gene ID: 5172, updated on 5-Mar-2019

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
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

Genomic context

See SLC26A4 in Genome Data Viewer
Location:
7q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 WBP1L 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 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
anion:anion antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
secondary active sulfate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
sulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bicarbonate transport IEA
Inferred from Electronic Annotation
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 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 HDA PubMed 
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
PubMed 
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
truncated solute carrier family 26

NCBI Reference Sequences (RefSeq)

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, ENST00000265715.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 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
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