SLC26A4
entrez
5172
canonical
uniprot
O43511
canonical
ensembl
ENSG00000091137
resolver
ensp
ENSP00000494017
resolver
genesymbol
SLC26A4
resolver
genesymbol_syn
PDS
resolver
hgnc
HGNC:8818
resolver
uniprot
B7Z266
resolver
uniprot
O43170
resolver
uniprot_entry
S26A4_HUMAN
resolver
uniprot_sec
B7Z266
resolver
uniprot_sec
O43170
resolver
amino_acid_sequence
MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS
uniprot
proteins
disease_involvement
DISEASE: Pendred syndrome (PDS) [MIM:274600]: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. {ECO:0000269|PubMed:10602116, ECO:0000269|PubMed:10718825, ECO:0000269|PubMed:10878664, ECO:0000269|PubMed:11317356, ECO:0000269|PubMed:11375792, ECO:0000269|PubMed:11748854, ECO:0000269|PubMed:11919333, ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:12788906, ECO:0000269|PubMed:12974744, ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:15531480, ECO:0000269|PubMed:15689455, ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:9398842, ECO:0000269|PubMed:9618166, ECO:0000269|PubMed:9618167}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct. {ECO:0000269|PubMed:10190331, ECO:0000269|PubMed:10700480, ECO:0000269|PubMed:11748854, ECO:0000269|PubMed:12676893, ECO:0000269|PubMed:14508505, ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:19204907, ECO:0000269|PubMed:20108392, ECO:0000269|PubMed:20597900, ECO:0000269|PubMed:24051746, ECO:0000269|PubMed:28281779, ECO:0000269|PubMed:9500541}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:24051746, PubMed:35601831). Mediates electroneutral iodide-bicarbonate exchange (By similarity). {ECO:0000250|UniProtKB:Q9R155, ECO:0000269|PubMed:10192399, ECO:0000269|PubMed:10644529, ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:12107249, ECO:0000269|PubMed:15155570, ECO:0000269|PubMed:16684826, ECO:0000269|PubMed:24051746, ECO:0000269|PubMed:35601831}.
uniprot
proteins
mass_dalton
85723
uniprot
proteins
protein_family
SLC26A/SulP transporter (TC 2.A.53) family
uniprot
proteins
pubmed
10190331
uniprot
proteins
pubmed
10192399
uniprot
proteins
pubmed
10602116
uniprot
proteins
pubmed
10644529
uniprot
proteins
pubmed
10700480
uniprot
proteins
pubmed
10718825
uniprot
proteins
pubmed
10878664
uniprot
proteins
pubmed
11274445
uniprot
proteins
pubmed
11317356
uniprot
proteins
pubmed
11375792
uniprot
proteins
pubmed
11748854
uniprot
proteins
pubmed
11919333
uniprot
proteins
pubmed
11932316
uniprot
proteins
pubmed
12107249
uniprot
proteins
pubmed
12112665
uniprot
proteins
pubmed
12676893
uniprot
proteins
pubmed
12788906
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12974744
uniprot
proteins
pubmed
14508505
uniprot
proteins
pubmed
14679580
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15155570
uniprot
proteins
pubmed
15355436
uniprot
proteins
pubmed
15531480
uniprot
proteins
pubmed
15689455
uniprot
proteins
pubmed
16684826
uniprot
proteins
pubmed
17146393
uniprot
proteins
pubmed
19204907
uniprot
proteins
pubmed
20108392
uniprot
proteins
pubmed
20597900
uniprot
proteins
pubmed
24051746
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
28281779
uniprot
proteins
pubmed
35601831
uniprot
proteins
pubmed
9398842
uniprot
proteins
pubmed
9500541
uniprot
proteins
pubmed
9618166
uniprot
proteins
pubmed
9618167
uniprot
proteins
sequence_length
780
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11932316, ECO:0000269|PubMed:24051746}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:11274445, ECO:0000269|PubMed:35601831}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 136..156; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 192..212; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 219..239; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 264..284; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 296..316; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 345..365; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 385..405; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 422..442; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 449..469; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 487..507; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins