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FLASH GENE

Symbol

SLC26A4

contributors: npt/mct - updated : 15-07-2012

HGNC name	solute carrier family 26, member 4
HGNC id	8818

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000441 21 - 4930 NP_000432 - 780 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea     Urinary kidney tubule collecting duct     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Endocrine thyroid 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed respiratory lung   may be a therapeutic target candidate for bronchial asthma and chronic obstructive pulmonary disease

ANIMAL & CELL MODELS