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2.A.53.2.17
Pendrin (Sodium-independent chloride/iodide/bicarbonate transporter) (Solute carrier family 26 member 4, Slc26a4).  Involved in ion homeostasis of the endolymph of the inner ear.  Missense mutations cause sensorineuronal hearing loss, but salicylate (aspirin) restored transport function by allowing transport from cytosolic sites to the plasma membrane (Ishihara et al. 2010). May also transport cyanate and thiocyanate (Pedemonte et al. 2007). May play a role in chronic inflammatory airway diseases (Sala-Rabanal et al. 2015). SLC26A4 functional expression may reduce or prevent fluctuation of hearing (Nishio et al. 2016).

Accession Number:O43511
Protein Name:Pendrin
Length:780
Molecular Weight:85723.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:13
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Cl-, I-, bicarbonate, Cyanate, Thiocyanate

Cross database links:

Genevestigator: O43511
eggNOG: COG0659
HEGENOM: HOG000006546
Entrez Gene ID: 5172   
Pfam: PF01740    PF00916   
KEGG: hsa:5172   

Gene Ontology

GO:0016324 C:apical plasma membrane
GO:0016021 C:integral to membrane
GO:0015108 F:chloride transmembrane transporter activity
GO:0015111 F:iodide transmembrane transporter activity
GO:0008271 F:secondary active sulfate transmembrane transporter activity
GO:0015116 F:sulfate transmembrane transporter activity
GO:0006885 P:regulation of pH
GO:0032880 P:regulation of protein localization
GO:0007605 P:sensory perception of sound

References (30)

[1] “Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).”  Everett L.A.et.al.   9398842
[2] “The DNA sequence of human chromosome 7.”  Hillier L.W.et.al.   12853948
[3] “The Pendred syndrome gene encodes a chloride-iodide transport protein.”  Scott D.A.et.al.   10192399
[4] “Two frequent missense mutations in Pendred syndrome.”  van Hauwe P.et.al.   9618166
[5] “Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).”  Coyle B.et.al.   9618167
[6] “A mutation in PDS causes non-syndromic recessive deafness.”  Li X.C.et.al.   9500541
[7] “Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.”  Usami S.et.al.   10190331
[8] “Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.”  Masmoudi S.et.al.   10602116
[9] “A novel mutation in the pendrin gene associated with Pendred's syndrome.”  Bogazzi F.et.al.   10718825
[10] “Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.”  Adato A.et.al.   10878664
[11] “Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.”  Reardon W.et.al.   10700480
[12] “Clinical and molecular analysis of three Mexican families with Pendred's syndrome.”  Gonzalez Trevino O.et.al.   11375792
[13] “Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.”  Campbell C.et.al.   11317356
[14] “Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.”  Lopez-Bigas N.et.al.   11748854
[15] “”  Lopez-Bigas N.et.al.   12112665
[16] “Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.”  Taylor J.P.et.al.   11932316
[17] “Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.”  Fugazzola L.et.al.   11919333
[18] “Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.”  Tekin M.et.al.   12974744
[19] “Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.”  Tsukamoto K.et.al.   14508505
[20] “Mutations in the PDS gene in german families with Pendred's syndrome: V138F is a founder mutation.”  Borck G.et.al.   12788906
[21] “Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.”  Park H.-J.et.al.   12676893
[22] “Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.”  Prasad S.et.al.   14679580
[23] “Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.”  Blons H.et.al.   15355436
[24] “Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.”  Napiontek U.et.al.   15531480
[25] “SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.”  Pryor S.P.et.al.   15689455
[26] “Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.”  Pfarr N.et.al.   16684826
[27] “Temporal bone imaging in GJB2 deafness.”  Propst E.J.et.al.   17146393
[28] “Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?”  Choi B.Y.et.al.   19204907
[29] “Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).”  Pourova R.et.al.   20597900
[30] “Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.”  Alasti F.et.al.   20108392

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FASTA formatted sequence
1:	MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR 
61:	AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA 
121:	FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA 
181:	RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL 
241:	NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI 
301:	PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA 
361:	YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT 
421:	QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV 
481:	IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE 
541:	EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT 
601:	KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL 
661:	DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL 
721:	TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS