Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SLC26A4 contributors: npt/mct - updated : 15-07-2012
HGNC name solute carrier family 26, member 4
HGNC id 8818
Corresponding disease
DFNB4 neurosensory deafness 4
PDS Pendred syndrome
Location 7q22.3      Physical location : 107.301.079 - 107.358.250
Synonym name
  • pendrin
  • sodium-independent chloride/iodide transporter
  • Synonym symbol(s) TDH2B, EVA
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text arranged tail to tail with DRA
    STRUCTURE 57.18 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure a key transcriptional regulatory element in the promoter that binds FOXI1, and required for FOXI1-mediated transcriptional activation of SLC26A4
    MAPPING cloned Y linked N status confirmed
    regionally located tightly linked to SLC26A3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4930 - 780 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    Urinarykidneytubulecollecting duct   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrinethyroid cell
    cell lineage
    cell lines decreased in thyroid carcinoma cells
    fluid/secretion
    at STAGE
    physiological period fetal
    Text kidney, brain, placenta
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • 12 putative transmembrane domains that transports monovalent anions, such as Cl–, I–, HCO3–
  • a STAS domain (sulfate transporter and anti-sigma factor antagonist)
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Slc26a4
    intraspecies homolog to DRA,DTDST
    Homologene
    FAMILY
  • SLC26A/SulP transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text apical pole of the thyrocytes
    basic FUNCTION
  • chloride and iodide transporter involved in the cellular trafficking of the thyroid follicular cells
  • playing a role in the formation and function of inner ear
  • required to maintain the physiological function of the endometrium
  • plays a role in the acid–base balance by mediating base secretion in the intercalated cells of renal cortical collecting ducts through its Cl–/HCO3– exchange activities
  • can induce mucus production in airway epithelial cells
  • induced expression of MUC5AC, a major product of mucus in asthma and chronic obstructive pulmonary disease, in airway epithelial cells
  • apical protein of thyroid follicular cells, responsible for the efflux of iodide into the follicular lumen via an iodide-chloride transport mechanism
  • anion exchanger, that mediates Cl(-) absorption and HCO3(-) secretion through apical Cl(-)/HCO3(-) exchange
  • becomes increasingly critical in the maintenance of Cl(-) and I(-) balance
  • contribution of the Cl-/HCO3- exchanger, pendrin, in the renal regulation of blood pressure
  • CFTR predominately controls the rate of liquid secretion, whereas SLC26A4 regulates the composition of the secreted fluid and identifies a critical role for this anion exchanger in transcellular HCO3&
  • 8722; secretion in airway serous cells
  • critical role in transcellular HCO3&
  • 8722; secretion by airway serous cells
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of TITF1, in differentiated thyroid cells (action is a prime factor in controlling thyroid differentiation)
  • RNF5 is involved in Pendrin (SLC26A4) degradation
  • cell & other
    REGULATION
    Other regulated by thyroglobulin
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB4 , PDS
    related resource Hereditary Hearing Loss Homepage
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in benign adenoma of the thyroid or thyroid cancer
    constitutional germinal mutation      
    associated with nonsyndromic hearing loss in carriers of KCNJ10 mutations with enlarged vestibular aqueduct
    constitutional   deletion    
    decreases apical Cl(-)/HCO3(-) exchanger activity and impairs bicarbonate secretion in kidney collecting duct
    Susceptibility
    Variant & Polymorphism
    Candidate gene autoantigen recognized by patients with autoimmune thyroid diseases (use of pendrin antibodies is an accurate diagnostic tool)
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    respiratorylung 
    may be a therapeutic target candidate for bronchial asthma and chronic obstructive pulmonary disease
    ANIMAL & CELL MODELS