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

Gene ID: 5172, updated on 19-Apr-2015
Official Symbol
SLC26A4provided by HGNC
Official Full Name
solute carrier family 26 (anion exchanger), member 4provided by HGNC
Primary source
HGNC:HGNC:8818
See related
Ensembl:ENSG00000091137; HPRD:05735; 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
See SLC26A4 in MapViewer
Location:
7q31
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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, E3 ubiquitin protein ligase Neighboring gene solute carrier family 26 (anion exchanger), member 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
NHGRI GWA Catalog
  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
iodide transmembrane transporter activity IEA
Inferred from Electronic Annotation
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
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
 
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 transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pendrin
Names
pendrin
sodium-independent chloride/iodide transporter

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, OTTHUMP00000206717, ENST00000265715, OTTHUMT00000337148
    Conserved Domains (4) 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
    pfam00916
    Location:203481
    Sulfate_transp; Sulfate transporter family
    pfam13792
    Location:69152
    Sulfate_tra_GLY; Sulfate transporter N-terminal domain with GLY motif
    TIGR00815
    Location:70725
    Sulfate_transporter; high affinity sulphate transporter 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005250425.1XP_005250482.1  

    See identical proteins and their annotated locations for XP_005250482.1

    UniProtKB/Swiss-Prot
    O43511
    Conserved Domains (4) 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
    pfam00916
    Location:203481
    Sulfate_transp; Sulfate transporter family
    pfam13792
    Location:69152
    Sulfate_tra_GLY; Sulfate transporter N-terminal domain with GLY motif
    TIGR00815
    Location:70725
    Sulfate_transporter; high affinity sulphate transporter 1
  2. XM_006716025.2XP_006716088.1  

    Conserved Domains (2) summary
    pfam00916
    Location:203421
    Sulfate_transp; Sulfate transporter family
    pfam13792
    Location:69152
    Sulfate_tra_GLY; Sulfate transporter N-terminal domain with GLY motif

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

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