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O43511 (S26A4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pendrin
Alternative name(s):
Sodium-independent chloride/iodide transporter
Solute carrier family 26 member 4
Gene names
Name:SLC26A4
Synonyms:PDS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length780 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Sodium-independent transporter of chloride and iodide. Ref.3

Subcellular location

Membrane; Multi-pass membrane protein Probable. Cell membrane; Multi-pass membrane protein. Note: Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney By similarity.

Tissue specificity

High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4 Ref.5 Ref.8 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18 Ref.20 Ref.22 Ref.23 Ref.24 Ref.25 Ref.28

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.11 Ref.14 Ref.19 Ref.21 Ref.28 Ref.29 Ref.30

Sequence similarities

Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. [View classification]

Contains 1 STAS domain.

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDeafness
Disease mutation
Non-syndromic deafness
   DomainTransmembrane
Transmembrane helix
   LigandChloride
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processchloride transmembrane transport

Traceable author statement Ref.3. Source: GOC

inorganic anion transport

Traceable author statement Ref.3. Source: ProtInc

ion transport

Traceable author statement. Source: Reactome

regulation of pH

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of protein localization

Inferred from sequence or structural similarity. Source: UniProtKB

sensory perception of sound

Traceable author statement Ref.3Ref.1. Source: ProtInc

sulfate transmembrane transport

Traceable author statement Ref.1. Source: GOC

sulfate transport

Traceable author statement Ref.1. Source: ProtInc

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentapical plasma membrane

Inferred from direct assay PubMed 16928804. Source: UniProtKB

brush border membrane

Inferred from sequence or structural similarity. Source: UniProtKB

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 23376485. Source: UniProt

integral component of membrane

Traceable author statement Ref.3. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionchloride transmembrane transporter activity

Traceable author statement Ref.3. Source: ProtInc

iodide transmembrane transporter activity

Traceable author statement Ref.3. Source: ProtInc

secondary active sulfate transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

sulfate transmembrane transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 780780Pendrin
PRO_0000080164

Regions

Topological domain1 – 8787Cytoplasmic Potential
Transmembrane88 – 10821Helical; Potential
Topological domain1091Extracellular Potential
Transmembrane110 – 13021Helical; Potential
Topological domain131 – 1355Cytoplasmic Potential
Transmembrane136 – 15621Helical; Potential
Topological domain157 – 19135Extracellular Potential
Transmembrane192 – 21221Helical; Potential
Topological domain213 – 2186Cytoplasmic Potential
Transmembrane219 – 23921Helical; Potential
Topological domain240 – 26324Extracellular Potential
Transmembrane264 – 28421Helical; Potential
Topological domain285 – 29511Cytoplasmic Potential
Transmembrane296 – 31621Helical; Potential
Topological domain317 – 34428Extracellular Potential
Transmembrane345 – 36521Helical; Potential
Topological domain366 – 38419Cytoplasmic Potential
Transmembrane385 – 40521Helical; Potential
Topological domain406 – 42116Extracellular Potential
Transmembrane422 – 44221Helical; Potential
Topological domain443 – 4486Cytoplasmic Potential
Transmembrane449 – 46921Helical; Potential
Topological domain470 – 48617Extracellular Potential
Transmembrane487 – 50721Helical; Potential
Topological domain508 – 780273Cytoplasmic Potential
Domain535 – 729195STAS

Natural variations

Natural variant61G → V. Ref.29
Corresponds to variant rs111033423 [ dbSNP | Ensembl ].
VAR_064988
Natural variant241R → G in Pendred syndrome/deafness individuals. Ref.22
VAR_021638
Natural variant281S → R in PDS and DFNB4. Ref.17 Ref.21
VAR_021639
Natural variant291E → Q in PDS. Ref.13 Ref.22 Ref.23
VAR_021640
Natural variant781Y → C in PDS. Ref.22 Ref.23
VAR_021641
Natural variant901S → L in DFNB4. Ref.21
VAR_021642
Natural variant991T → M. Ref.27
Corresponds to variant rs141142414 [ dbSNP | Ensembl ].
VAR_064989
Natural variant1021G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. Ref.16
VAR_021643
Natural variant1041A → V in Pendred syndrome/deafness individuals. Ref.22
VAR_021644
Natural variant1051Y → C in PDS. Ref.13 Ref.22
VAR_021645
Natural variant1061A → D in PDS. Ref.13 Ref.22
VAR_021646
Natural variant1171L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. Ref.11 Ref.16
Corresponds to variant rs145254330 [ dbSNP | Ensembl ].
VAR_021647
Natural variant1231P → S in DFNB4. Ref.19
VAR_027238
Natural variant1321T → I in DFNB4. Ref.14
VAR_021648
Natural variant1331S → T in PDS. Ref.17 Ref.20
VAR_021649
Natural variant1371S → P in PDS. Ref.23
VAR_021650
Natural variant1381V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. Ref.4 Ref.5 Ref.12 Ref.13 Ref.16 Ref.20 Ref.22 Ref.23 Ref.28
VAR_021651
Natural variant1391G → A in PDS. Ref.4 Ref.22
VAR_021652
Natural variant1441V → A Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. Ref.29
VAR_064990
Natural variant1471M → V in DFNB4. Ref.19
VAR_027239
Natural variant1851R → T Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. Ref.29
VAR_064991
Natural variant1931T → I in PDS. Ref.10 Ref.23
VAR_011623
Natural variant2091G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. Ref.4 Ref.7 Ref.11 Ref.13 Ref.16 Ref.22 Ref.23 Ref.28
VAR_007440
Natural variant2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. Ref.4 Ref.5 Ref.11 Ref.13 Ref.16 Ref.22 Ref.23 Ref.28
VAR_007441
Natural variant2391V → D in PDS and DFNB4. Ref.18 Ref.21
VAR_021653
Natural variant2521S → P in DFNB4. Ref.21
VAR_021654
Natural variant2711D → H in PDS. Ref.4 Ref.22
VAR_021655
Natural variant2811V → I in DFNB4. Ref.29
VAR_064992
Natural variant3011P → L.
Corresponds to variant rs34373141 [ dbSNP | Ensembl ].
VAR_053663
Natural variant3241N → Y. Ref.22
Corresponds to variant rs36039758 [ dbSNP | Ensembl ].
VAR_053664
Natural variant3351F → L in PDS and DFNB4. Ref.13 Ref.22 Ref.28
Corresponds to variant rs111033212 [ dbSNP | Ensembl ].
VAR_021656
Natural variant3691K → E in DFNB4. Ref.7
VAR_007442
Natural variant3721A → V in DFNB4. Ref.7
VAR_007443
Natural variant3841E → G in PDS and PDS/DFNB4. Ref.5 Ref.20 Ref.22 Ref.28
VAR_007444
Natural variant3911S → N in PDS. Ref.23
VAR_021657
Natural variant3921N → Y in DFNB4. Ref.21
Corresponds to variant rs201562855 [ dbSNP | Ensembl ].
VAR_021658
Natural variant4021V → M in PDS and DFNB4. Ref.28
VAR_058580
Natural variant4091R → H in PDS. Ref.4 Ref.5 Ref.17 Ref.22 Ref.23
VAR_021659
Natural variant4091R → P in DFNB4. Ref.21
VAR_021660
Natural variant4101T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. Ref.5 Ref.11 Ref.14 Ref.16 Ref.17 Ref.21 Ref.22 Ref.23
VAR_021661
Natural variant4111A → P in PDS. Ref.12
VAR_021662
Natural variant4161T → P in PDS and DFNB4; common mutation. Ref.4 Ref.5 Ref.11 Ref.13 Ref.22 Ref.23 Ref.24 Ref.28
Corresponds to variant rs28939086 [ dbSNP | Ensembl ].
VAR_007445
Natural variant4211Q → R in Pendred syndrome/deafness individuals. Ref.22
VAR_021663
Natural variant4291Missing in Pendred syndrome/deafness individuals. Ref.22
VAR_021664
Natural variant4451L → W in PDS and DFNB4. Ref.4 Ref.8 Ref.11 Ref.14 Ref.22 Ref.23 Ref.28
VAR_011624
Natural variant4461Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. Ref.11 Ref.16
VAR_021665
Natural variant4551I → F in DFNB4. Ref.21
VAR_021666
Natural variant4571N → K in DFNB4. Ref.21
VAR_021667
Natural variant4801V → D in PDS; retains residual transport function. Ref.13 Ref.22
VAR_021668
Natural variant4901I → L in DFNB4. Ref.6
VAR_021669
Natural variant4971G → S in DFNB4. Ref.6
VAR_007446
Natural variant5081T → N in PDS. Ref.9
VAR_027240
Natural variant5141Q → R in PDS. Ref.25 Ref.28
VAR_027241
Natural variant5301Y → H in PDS. Ref.5 Ref.13 Ref.20 Ref.22 Ref.23 Ref.28
VAR_021670
Natural variant5301Y → S in PDS and DFNB4. Ref.25 Ref.28
VAR_027242
Natural variant5521S → I in PDS. Ref.23
VAR_021671
Natural variant5561Y → C in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. Ref.5 Ref.16 Ref.22
VAR_021672
Natural variant5561Y → H in PDS. Ref.14
VAR_021673
Natural variant5581N → K in DFNB4. Ref.30
VAR_064993
Natural variant5651C → Y in PDS. Ref.4 Ref.22 Ref.28
VAR_021674
Natural variant5971L → S. Ref.13 Ref.17 Ref.22 Ref.23 Ref.28 Ref.29
Corresponds to variant rs55638457 [ dbSNP | Ensembl ].
VAR_021675
Natural variant6091V → G. Ref.25 Ref.28
Corresponds to variant rs17154335 [ dbSNP | Ensembl ].
VAR_027243
Natural variant6531V → A in PDS; retains residual transport function. Ref.13 Ref.22
VAR_021676
Natural variant6661S → F in DFNB4. Ref.19
VAR_027244
Natural variant6671F → C in PDS. Ref.1
VAR_007447
Natural variant6721G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. Ref.5 Ref.13 Ref.16 Ref.22
VAR_021677
Natural variant6761L → Q in DFNB4. Ref.21
VAR_021678
Natural variant6831F → S in Pendred syndrome/deafness individuals. Ref.22
VAR_021679
Natural variant6871D → Y.
Corresponds to variant rs35548413 [ dbSNP | Ensembl ].
VAR_053665
Natural variant6941S → P in PDS. Ref.23
VAR_021680
Natural variant7211T → M in DFNB4 and PDS. Ref.7 Ref.14 Ref.21 Ref.23
VAR_007448
Natural variant7231H → R in DFNB4 and PDS; common mutation in Korea and Japan. Ref.4 Ref.7 Ref.18 Ref.21 Ref.22
Corresponds to variant rs121908362 [ dbSNP | Ensembl ].
VAR_007449
Natural variant7241D → N in PDS. Ref.23
VAR_021681
Natural variant7401G → S.
Corresponds to variant rs17154353 [ dbSNP | Ensembl ].
VAR_027245
Natural variant7751M → T in PDS and DFNB4. Ref.28
VAR_058581
Natural variant7761R → C Retains its ability to transport iodide in vitro. Ref.25 Ref.26 Ref.28
Corresponds to variant rs111033255 [ dbSNP | Ensembl ].
VAR_027246

Sequences

Sequence LengthMass (Da)Tools
O43511 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 3AEF5D720B155CE0

FASTA78085,723
        10         20         30         40         50         60 
MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR 

        70         80         90        100        110        120 
AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA 

       130        140        150        160        170        180 
FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA 

       190        200        210        220        230        240 
RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL 

       250        260        270        280        290        300 
NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI 

       310        320        330        340        350        360 
PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA 

       370        380        390        400        410        420 
YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT 

       430        440        450        460        470        480 
QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV 

       490        500        510        520        530        540 
IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE 

       550        560        570        580        590        600 
EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT 

       610        620        630        640        650        660 
KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL 

       670        680        690        700        710        720 
DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL 

       730        740        750        760        770        780 
TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS 

« Hide

References

« Hide 'large scale' references
[1]"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)."
Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M., Adawi F., Hazani E., Nassir E., Baxevanis A.D., Sheffield V.C., Green E.D.
Nat. Genet. 17:411-422(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PDS CYS-667.
Tissue: Thyroid.
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The Pendred syndrome gene encodes a chloride-iodide transport protein."
Scott D.A., Wang R., Kreman T.M., Sheffield V.C., Karnishki L.P.
Nat. Genet. 21:440-443(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[4]"Two frequent missense mutations in Pendred syndrome."
van Hauwe P., Everett L.A., Coucke P., Scott D.A., Kraft M.L., Ris-Stalpers C., Bolder C., Otten B., de Vijlder J.J.M., Dietrich N.L., Ramesh A., Srisailapathy S.C.R., Parving A., Cremers C.W.R.J., Willems P.J., Smith R.J.H., Green E.D., van Camp G.
Hum. Mol. Genet. 7:1099-1104(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; HIS-409; PRO-416; TRP-445; TYR-565 AND ARG-723.
[5]"Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)."
Coyle B., Reardon W., Herbrick J.-A., Tsui L.-C., Gausden E., Lee J., Coffey R., Grueters A., Grossman A., Phelps P.D., Luxon L., Kendall-Taylor P., Scherer S.W., Trembath R.C.
Hum. Mol. Genet. 7:1105-1112(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS PHE-138; PRO-236; GLY-384; HIS-409; MET-410; PRO-416; HIS-530; CYS-556 AND GLU-672.
[6]"A mutation in PDS causes non-syndromic recessive deafness."
Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D., Wilcox E.R.
Nat. Genet. 18:215-217(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB4 LEU-490 AND SER-497.
[7]"Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations."
Usami S., Abe S., Weston M.D., Shinkawa H., Van Camp G., Kimberling W.J.
Hum. Genet. 104:188-192(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB4 VAL-209; GLU-369; VAL-372; MET-721 AND ARG-723.
[8]"Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation."
Masmoudi S., Charfedine I., Hmani M., Grati M., Ghorbel A.M., Elgaied-Boulila A., Drira M., Hardelin J.-P., Ayadi M.
Am. J. Med. Genet. 90:38-44(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PDS TRP-445.
[9]"A novel mutation in the pendrin gene associated with Pendred's syndrome."
Bogazzi F., Raggi F., Ultimieri F., Campomori A., Cosci C., Berrettini S., Neri E., La Rocca R., Ronca G., Martino E., Bartalena L.
Clin. Endocrinol. (Oxf.) 52:279-285(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PDS ASN-508.
[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., Raskin L., Petit C., Bonne-Tamir B.
Eur. J. Hum. Genet. 8:437-442(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PDS ILE-193.
[11]"Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene."
Reardon W., O'Mahoney C.F., Trembath R., Jan H., Phelps P.D.
QJM 93:99-104(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB4 PHE-117; VAL-209; PRO-236; MET-410; PRO-416; TRP-445 AND ARG-446.
[12]"Clinical and molecular analysis of three Mexican families with Pendred's syndrome."
Gonzalez Trevino O., Karamanoglu Arseven O., Ceballos C.J., Vives V.I., Ramirez R.C., Gomez V.V., Medeiros-Neto G., Kopp P.
Eur. J. Endocrinol. 144:585-593(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS PHE-138 AND PRO-411.
[13]"Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations."
Campbell C., Cucci R.A., Prasad S., Green G.E., Edeal J.B., Galer C.E., Karniski L.P., Sheffield V.C., Smith R.J.H.
Hum. Mutat. 17:403-411(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS GLN-29; CYS-105; ASP-106; PHE-138; VAL-209; PRO-236; LEU-335; PRO-416; ASP-480; HIS-530; ALA-653 AND GLU-672, VARIANT SER-597.
[14]"Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment."
Lopez-Bigas N., Melchionda S., de Cid R., Grifa A., Zelante L., Govea N., Arbones M.L., Gasparini P., Estivill X.
Hum. Mutat. 18:548-548(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS TRP-445; HIS-556 AND MET-721, VARIANTS DFNB4 ILE-132 AND MET-410.
[15]Erratum
Lopez-Bigas N., Melchionda S., de Cid R., Grifa A., Zelante L., Govea N., Arbones M.L., Gasparini P., Estivill X.
Hum. Mutat. 20:77-78(2002) [PubMed] [Europe PMC] [Abstract]
[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., Metcalfe R.A., Watson P.F., Weetman A.P., Trembath R.C.
J. Clin. Endocrinol. Metab. 87:1778-1784(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209; PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672.
[17]"Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies."
Fugazzola L., Cerutti N., Mannavola D., Crino A., Cassio A., Gasparoni P., Vannucchi G., Beck-Peccoz P.
Pediatr. Res. 51:479-484(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS ARG-28; THR-133; HIS-409 AND MET-410, VARIANT SER-597.
[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., Akcayoez D., Comak E., Bogoclu G., Duman T., Fitoz S., Ilhan I., Akar N.
Clin. Genet. 64:371-374(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS ASP-239 AND ARG-723.
[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., Suzuki H., Harada D., Namba A., Abe S., Usami S.
Eur. J. Hum. Genet. 11:916-922(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB4 SER-123; VAL-147 AND PHE-666.
[20]"Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation."
Borck G., Roth C., Martine U., Wildhardt G., Pohlenz J.
J. Clin. Endocrinol. Metab. 88:2916-2921(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS THR-133; PHE-138; GLY-384 AND HIS-530.
[21]"Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness."
Park H.-J., Shaukat S., Liu X.-Z., Hahn S.H., Naz S., Ghosh M., Kim H.-N., Moon S.-K., Abe S., Tukamoto K., Riazuddin S., Kabra M., Erdenetungalag R., Radnaabazar J., Khan S., Pandya A., Usami S., Nance W.E. expand/collapse author list , Wilcox E.R., Riazuddin S., Griffith A.J.
J. Med. Genet. 40:242-248(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB4 ARG-28; LEU-90; ASP-239; PRO-252; TYR-392; PRO-409; MET-410; PHE-455; LYS-457; GLN-676; MET-721 AND ARG-723.
[22]"Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations."
Prasad S., Koelln K.A., Cucci R.A., Trembath R.C., Van Camp G., Smith R.J.H.
Am. J. Med. Genet. A 124:1-9(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS/DFNB4 GLY-24; GLN-29; CYS-78; VAL-104; CYS-105; ASP-106; PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; LEU-335; GLY-384; HIS-409; MET-410; PRO-416; ARG-421; ALA-429 DEL; TRP-445; ASP-480; HIS-530; CYS-556; TYR-565; ALA-653; GLU-672; SER-683 AND ARG-723, VARIANTS TYR-324 AND SER-597.
[23]"Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity."
Blons H., Feldmann D., Duval V., Messaz O., Denoyelle F., Loundon N., Sergout-Allaoui A., Houang M., Duriez F., Lacombe D., Delobel B., Leman J., Catros H., Journel H., Drouin-Garraud V., Obstoy M.-F., Toutain A., Oden S. expand/collapse author list , Toublanc J.E., Couderc R., Petit C., Garabedian E.-N., Marlin S.
Clin. Genet. 66:333-340(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236; ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; PRO-694; MET-721 AND ASN-724, VARIANT SER-597.
[24]"Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene."
Napiontek U., Borck G., Mueller-Forell W., Pfarr N., Bohnert A., Keilmann A., Pohlenz J.
J. Clin. Endocrinol. Metab. 89:5347-5351(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PDS PRO-416.
[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., Madeo A.C., Reynolds J.C., Sarlis N.J., Arnos K.S., Nance W.E., Yang Y., Zalewski C.K., Brewer C.C., Butman J.A., Griffith A.J.
J. Med. Genet. 42:159-165(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS ARG-514 AND SER-530, VARIANTS GLY-609 AND CYS-776.
[26]"Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes."
Pfarr N., Borck G., Turk A., Napiontek U., Keilmann A., Mueller-Forell W., Kopp P., Pohlenz J.
J. Clin. Endocrinol. Metab. 91:2678-2681(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CYS-776, CHARACTERIZATION OF VARIANT CYS-776.
[27]"Temporal bone imaging in GJB2 deafness."
Propst E.J., Blaser S., Stockley T.L., Harrison R.V., Gordon K.A., Papsin B.C.
Laryngoscope 116:2178-2186(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-99.
[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., Stewart A.K., Madeo A.C., Pryor S.P., Lenhard S., Kittles R., Eisenman D., Kim H.J., Niparko J., Thomsen J., Arnos K.S., Nance W.E., King K.A., Zalewski C.K., Brewer C.C., Shawker T., Reynolds J.C., Butman J.A. expand/collapse author list , Karniski L.P., Alper S.L., Griffith A.J.
Hum. Mutat. 30:599-608(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PDS PHE-138; VAL-209; PRO-236; GLY-384; MET-402; PRO-416; TRP-445; ARG-514; HIS-530; TYR-565 AND THR-775, VARIANTS DFNB4 LEU-335; MET-402; SER-530 AND THR-775, VARIANTS SER-597; GLY-609 AND CYS-776.
[29]"Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA)."
Pourova R., Janousek P., Jurovcik M., Dvorakova M., Malikova M., Raskova D., Bendova O., Leonardi E., Murgia A., Kabelka Z., Astl J., Seeman P.
Ann. Hum. Genet. 74:299-307(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNB4 ILE-281, VARIANTS VAL-6; ALA-144; THR-185 AND SER-597.
[30]"Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive."
Alasti F., Peeters N., Wuyts W., Sanati M.H., Van Camp G.
Hum. Genet. 127:116-116(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNB4 LYS-558.
+Additional computationally mapped references.

Web resources

Hereditary hearing loss homepage

Gene page

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Pendrin entry

Protein Spotlight

A missing sense - Issue 133 of November 2011

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF030880 mRNA. Translation: AAC51873.1.
AC002467 Genomic DNA. Translation: AAB88773.2.
CCDSCCDS5746.1.
RefSeqNP_000432.1. NM_000441.1.
XP_005250482.1. XM_005250425.1.
XP_006716087.1. XM_006716024.1.
UniGeneHs.571246.

3D structure databases

ProteinModelPortalO43511.
SMRO43511. Positions 516-577, 620-727.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000265715.

Protein family/group databases

TCDB2.A.53.2.17. the sulfate permease (sulp) family.

PTM databases

PhosphoSiteO43511.

Proteomic databases

PaxDbO43511.
PRIDEO43511.

Protocols and materials databases

DNASU5172.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265715; ENSP00000265715; ENSG00000091137.
GeneID5172.
KEGGhsa:5172.
UCSCuc003vep.3. human.

Organism-specific databases

CTD5172.
GeneCardsGC07P107301.
GeneReviewsSLC26A4.
H-InvDBHIX0006991.
HGNCHGNC:8818. SLC26A4.
HPAHPA042860.
MIM274600. phenotype.
600791. phenotype.
605646. gene.
neXtProtNX_O43511.
Orphanet95713. Athyreosis.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
705. Pendred syndrome.
95720. Thyroid hypoplasia.
PharmGKBPA35506.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0659.
HOGENOMHOG000006546.
HOVERGENHBG000639.
InParanoidO43511.
KOK14702.
OMAPSWNGLG.
OrthoDBEOG76T9QT.
PhylomeDBO43511.
TreeFamTF313784.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO43511.
BgeeO43511.
CleanExHS_SLC26A4.
GenevestigatorO43511.

Family and domain databases

Gene3D3.30.750.24. 2 hits.
InterProIPR018045. S04_transporter_CS.
IPR002645. STAS_dom.
IPR001902. SulP_transpt.
IPR011547. Sulph_transpt.
[Graphical view]
PfamPF01740. STAS. 1 hit.
PF00916. Sulfate_transp. 1 hit.
[Graphical view]
SUPFAMSSF52091. SSF52091. 2 hits.
TIGRFAMsTIGR00815. sulP. 1 hit.
PROSITEPS01130. SLC26A. 1 hit.
PS50801. STAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPendrin.
GenomeRNAi5172.
NextBio20014.
PROO43511.
SOURCESearch...

Entry information

Entry nameS26A4_HUMAN
AccessionPrimary (citable) accession number: O43511
Secondary accession number(s): O43170
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: July 9, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM