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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

HCOP human homology predictions: SLC26A4
Protein SuperFamily: sulfate transport protein
Gene Tree: Slc26a4

Human
homologs
SLC26A4, solute carrier family 26 (anion exchanger), member 4
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5172
neXtProt AC: NX_O43511

Human Synonyms: DFNB4, EVA, PDS, TDH2B

Human Chr (Location): 7q31; chr7:107660635-107717809 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SLC26A4

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(1) Gene trapped(1) Spontaneous(1) Targeted(6)
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 in Mice Using Slc26a4 (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(11)
Interactions
Slc26a4 interacts with 130 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (20 records)
Data Summary: Results (47)    Tissues (28)    Images (11)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 32
Western blot 10
RT-PCR 5
cDNA source data(8)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase slc26a4 ; ZFIN slc26a4    NEW 
Molecular
reagents
All nucleic(10) cDNA(8) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000020651 (Evidence)
Entrez Gene 23985 (Evidence)
UniGene 100187
DFCI TC1585767
DoTS DT.40172738
NIA Mouse Gene Index U033879
Consensus CDS Project CCDS36429.1
International Mouse Phenotyping Consortium Status Slc26a4
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(19) RefSeq(8) 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:219116 Sutliff RL, et al., Contractile force is enhanced in Aortas from pendrin null mice due to stimulation of angiotensin II-dependent signaling. PLoS One. 2014;9(8):e105101
All references(89)
Disease annotation references (10)

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
07/28/2015
MGI 5.22
The Jackson Laboratory