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Slc26a4 Gene Detail
Summary
  • Symbol
    Slc26a4
  • Name
    solute carrier family 26, member 4
  • Synonyms
    Pds, pendrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346029
    NCBI Gene: 23985
  • Gene Overview
    MyGene.info: SLC26A4
Location & Maps
more
  • Sequence Map
    Chr12:31519827-31559969 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      40143 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 13.53 cM, cytoband B1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC26A4, solute carrier family 26 member 4
  • Vertebrate Orthologs
    12
  • Human Ortholog
    SLC26A4, solute carrier family 26 member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DFNB4, EVA, PDS, TDH2B
  • Links
    NCBI Gene ID: 5172
    neXtProt AC: NX_O43511

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

Human Diseases
more
  • Diseases
    2 with Slc26a4 mouse models; 2 with human SLC26A4 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct;   OMIM: 600791 View 3 models
Pendred Syndrome; PDS   OMIM: 274600 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    86 phenotypes from 6 alleles in 9 genetic backgrounds
    1 phenotype from multigenic genotypes
    11 images
    42 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    6
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    151 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 8
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 90
    Developmental Gene Expression 21
    Diseases 10
    Gene Ontology 10
    Phenotypes 42
  • 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:228358 Lazo-Fernandez Y, et al., Pendrin localizes to the adrenal medulla and modulates catecholamine release. Am J Physiol Endocrinol Metab. 2015 Sep 15;309(6):E534-45

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
06/22/2016
MGI 6.04
The Jackson Laboratory