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Slc26a4
Gene Detail
 Symbol
Name
ID
Slc26a4
solute carrier family 26, member 4
MGI:1346029
Synonyms Pds, pendrin
Feature Type protein coding gene
Genetic Map
Chromosome 12
13.53 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:31519827-31559969 bp, - strand
From Ensembl annotation of GRCm38

  40143 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20132  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 3 western clawed frog; 1 zebrafish

Protein SuperFamily: sulfate transport protein
Gene Tree: Slc26a4

Human
homologs
Human Homolog SLC26A4, solute carrier family 26 (anion exchanger), member 4
NCBI Gene ID 5172
neXtProt AC  NX_O43511
Human Synonyms  DFNB4, EVA, PDS, TDH2B
Human Chr (Location)  7q31; chr7:107660635-107717809 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human SLC26A4
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Chemically induced (ENU)(1) Gene trapped(1) Spontaneous(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing.
 
Human Diseases Modeled Using Mouse Slc26a4 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(11)
Interactions
Slc26a4 interacts with 130 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process anion transport, chloride transmembrane transport, ...
Component apical plasma membrane, brush border membrane, ...
Function anion transmembrane transporter activity, chloride transmembrane transporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (47)    Tissues (28)    Images (11)
Theiler Stages: 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 32
Western blot 10
RT-PCR 5
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(10) cDNA(8) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000020651 (Evidence)
Entrez Gene23985 (Evidence)
UniGene100187
DFCITC1585767
DoTSDT.40172738
NIA Mouse Gene IndexU033879
Consensus CDS ProjectCCDS36429.1
International Mouse Knockout Project StatusSlc26a4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020651 Ensembl Gene Model | MGI Sequence Detail 40143 C57BL/6J ±  kb
transcript ENSMUST00000001253 Ensembl | MGI Sequence Detail 3075 Not Applicable 
polypeptide ENSMUSP00000001253 Ensembl | MGI Sequence Detail 780 Not Applicable 

For the selected sequences
All sequences(17) RefSeq(6) UniProt(2)
Polymorphisms SNPs within 2kb(145 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002645 STAS domain
InterPro IPR001902 Sulphate anion transporter
InterPro IPR018045 Sulphate anion transporter, conserved site
InterPro IPR011547 Sulphate transporter
Protein Ontology PR:000015039 pendrin
References (Earliest) J:57104 Everett LA, et al., Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci U S A. 1999 Aug 17;96(17):9727-32
(Latest) J:212027 Ito T, et al., Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction. Neurobiol Dis. 2014 Jun;66:53-65
All references(82)
Disease annotation references (7)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory