O43511 (S26A4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pendrin

Alternative name(s):
Sodium-independent chloride/iodide transporter
Solute carrier family 26 member 4

Gene names

Name:	SLC26A4
Synonyms:	PDS

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	780 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Sodium-independent transporter of chloride and iodide. Ref.3
Subcellular location	Membrane; Multi-pass membrane protein Probable.
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 process	Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Deafness Disease mutation Non-syndromic deafness
Domain	Transmembrane Transmembrane helix
Ligand	Chloride
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	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 transport Traceable author statement Ref.1. Source: ProtInc
Cellular_component	apical plasma membrane Inferred from direct assay PubMed 16928804. Source: UniProtKB integral to membrane Traceable author statement Ref.3. Source: ProtInc
Molecular_function	chloride 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 780	780	Pendrin		PRO_0000080164
Regions
	Topological domain	1 – 87	87	Cytoplasmic Potential
	Transmembrane	88 – 108	21	Helical; Potential
	Topological domain	109	1	Extracellular Potential
	Transmembrane	110 – 130	21	Helical; Potential
	Topological domain	131 – 135	5	Cytoplasmic Potential
	Transmembrane	136 – 156	21	Helical; Potential
	Topological domain	157 – 191	35	Extracellular Potential
	Transmembrane	192 – 212	21	Helical; Potential
	Topological domain	213 – 218	6	Cytoplasmic Potential
	Transmembrane	219 – 239	21	Helical; Potential
	Topological domain	240 – 263	24	Extracellular Potential
	Transmembrane	264 – 284	21	Helical; Potential
	Topological domain	285 – 295	11	Cytoplasmic Potential
	Transmembrane	296 – 316	21	Helical; Potential
	Topological domain	317 – 344	28	Extracellular Potential
	Transmembrane	345 – 365	21	Helical; Potential
	Topological domain	366 – 384	19	Cytoplasmic Potential
	Transmembrane	385 – 405	21	Helical; Potential
	Topological domain	406 – 421	16	Extracellular Potential
	Transmembrane	422 – 442	21	Helical; Potential
	Topological domain	443 – 448	6	Cytoplasmic Potential
	Transmembrane	449 – 469	21	Helical; Potential
	Topological domain	470 – 486	17	Extracellular Potential
	Transmembrane	487 – 507	21	Helical; Potential
	Topological domain	508 – 780	273	Cytoplasmic Potential
	Domain	535 – 729	195	STAS
Natural variations
	Natural variant	6	1	G → V. Ref.29 Corresponds to variant rs111033423 [ dbSNP | Ensembl ].		VAR_064988
	Natural variant	24	1	R → G in Pendred syndrome/deafness individuals. Ref.22		VAR_021638
	Natural variant	28	1	S → R in PDS and DFNB4. Ref.17 Ref.21		VAR_021639
	Natural variant	29	1	E → Q in PDS. Ref.13 Ref.22 Ref.23		VAR_021640
	Natural variant	78	1	Y → C in PDS. Ref.22 Ref.23		VAR_021641
	Natural variant	90	1	S → L in DFNB4. Ref.21		VAR_021642
	Natural variant	99	1	T → M. Ref.27		VAR_064989
	Natural variant	102	1	G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. Ref.16		VAR_021643
	Natural variant	104	1	A → V in Pendred syndrome/deafness individuals. Ref.22		VAR_021644
	Natural variant	105	1	Y → C in PDS. Ref.13 Ref.22		VAR_021645
	Natural variant	106	1	A → D in PDS. Ref.13 Ref.22		VAR_021646
	Natural variant	117	1	L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. Ref.11 Ref.16		VAR_021647
	Natural variant	123	1	P → S in DFNB4. Ref.19		VAR_027238
	Natural variant	132	1	T → I in DFNB4. Ref.14		VAR_021648
	Natural variant	133	1	S → T in PDS. Ref.17 Ref.20		VAR_021649
	Natural variant	137	1	S → P in PDS. Ref.23		VAR_021650
	Natural variant	138	1	V → 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 variant	139	1	G → A in PDS. Ref.4 Ref.22		VAR_021652
	Natural variant	144	1	V → A Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. Ref.29		VAR_064990
	Natural variant	147	1	M → V in DFNB4. Ref.19		VAR_027239
	Natural variant	185	1	R → T Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. Ref.29		VAR_064991
	Natural variant	193	1	T → I in PDS. Ref.10 Ref.23		VAR_011623
	Natural variant	209	1	G → 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 variant	236	1	L → 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 variant	239	1	V → D in PDS and DFNB4. Ref.18 Ref.21		VAR_021653
	Natural variant	252	1	S → P in DFNB4. Ref.21		VAR_021654
	Natural variant	271	1	D → H in PDS. Ref.4 Ref.22		VAR_021655
	Natural variant	281	1	V → I in DFNB4. Ref.29		VAR_064992
	Natural variant	301	1	P → L. Corresponds to variant rs34373141 [ dbSNP | Ensembl ].		VAR_053663
	Natural variant	324	1	N → Y. Ref.22 Corresponds to variant rs36039758 [ dbSNP | Ensembl ].		VAR_053664
	Natural variant	335	1	F → L in PDS and DFNB4. Ref.13 Ref.22 Ref.28		VAR_021656
	Natural variant	369	1	K → E in DFNB4. Ref.7		VAR_007442
	Natural variant	372	1	A → V in DFNB4. Ref.7		VAR_007443
	Natural variant	384	1	E → G in PDS and PDS/DFNB4. Ref.5 Ref.20 Ref.22 Ref.28		VAR_007444
	Natural variant	391	1	S → N in PDS. Ref.23		VAR_021657
	Natural variant	392	1	N → Y in DFNB4. Ref.21		VAR_021658
	Natural variant	402	1	V → M in PDS and DFNB4. Ref.28		VAR_058580
	Natural variant	409	1	R → H in PDS. Ref.4 Ref.5 Ref.17 Ref.22 Ref.23		VAR_021659
	Natural variant	409	1	R → P in DFNB4. Ref.21		VAR_021660
	Natural variant	410	1	T → 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 variant	411	1	A → P in PDS. Ref.12		VAR_021662
	Natural variant	416	1	T → 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 variant	421	1	Q → R in Pendred syndrome/deafness individuals. Ref.22		VAR_021663
	Natural variant	429	1	Missing in Pendred syndrome/deafness individuals. Ref.22		VAR_021664
	Natural variant	445	1	L → W in PDS and DFNB4. Ref.4 Ref.8 Ref.11 Ref.14 Ref.22 Ref.23 Ref.28		VAR_011624
	Natural variant	446	1	Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. Ref.11 Ref.16		VAR_021665
	Natural variant	455	1	I → F in DFNB4. Ref.21		VAR_021666
	Natural variant	457	1	N → K in DFNB4. Ref.21		VAR_021667
	Natural variant	480	1	V → D in PDS; retains residual transport function. Ref.13 Ref.22		VAR_021668
	Natural variant	490	1	I → L in DFNB4. Ref.6		VAR_021669
	Natural variant	497	1	G → S in DFNB4. Ref.6		VAR_007446
	Natural variant	508	1	T → N in PDS. Ref.9		VAR_027240
	Natural variant	514	1	Q → R in PDS. Ref.25 Ref.28		VAR_027241
	Natural variant	530	1	Y → H in PDS. Ref.5 Ref.13 Ref.20 Ref.22 Ref.23 Ref.28		VAR_021670
	Natural variant	530	1	Y → S in PDS and DFNB4. Ref.25 Ref.28		VAR_027242
	Natural variant	552	1	S → I in PDS. Ref.23		VAR_021671
	Natural variant	556	1	Y → C in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. Ref.5 Ref.16 Ref.22		VAR_021672
	Natural variant	556	1	Y → H in PDS. Ref.14		VAR_021673
	Natural variant	558	1	N → K in DFNB4. Ref.30		VAR_064993
	Natural variant	565	1	C → Y in PDS. Ref.4 Ref.22 Ref.28		VAR_021674
	Natural variant	597	1	L → S. Ref.13 Ref.17 Ref.22 Ref.23 Ref.28 Ref.29 Corresponds to variant rs55638457 [ dbSNP | Ensembl ].		VAR_021675
	Natural variant	609	1	V → G. Ref.25 Ref.28 Corresponds to variant rs17154335 [ dbSNP | Ensembl ].		VAR_027243
	Natural variant	653	1	V → A in PDS; retains residual transport function. Ref.13 Ref.22		VAR_021676
	Natural variant	666	1	S → F in DFNB4. Ref.19		VAR_027244
	Natural variant	667	1	F → C in PDS. Ref.1		VAR_007447
	Natural variant	672	1	G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. Ref.5 Ref.13 Ref.16 Ref.22		VAR_021677
	Natural variant	676	1	L → Q in DFNB4. Ref.21		VAR_021678
	Natural variant	683	1	F → S in Pendred syndrome/deafness individuals. Ref.22		VAR_021679
	Natural variant	687	1	D → Y. Corresponds to variant rs35548413 [ dbSNP | Ensembl ].		VAR_053665
	Natural variant	694	1	S → P in PDS. Ref.23		VAR_021680
	Natural variant	721	1	T → M in DFNB4 and PDS. Ref.7 Ref.14 Ref.21 Ref.23		VAR_007448
	Natural variant	723	1	H → R in DFNB4 and PDS; common mutation in Korea and Japan. Ref.4 Ref.7 Ref.18 Ref.21 Ref.22		VAR_007449
	Natural variant	724	1	D → N in PDS. Ref.23		VAR_021681
	Natural variant	740	1	G → S. Corresponds to variant rs17154353 [ dbSNP | Ensembl ].		VAR_027245
	Natural variant	775	1	M → T in PDS and DFNB4. Ref.28		VAR_058581
	Natural variant	776	1	R → C Retains its ability to transport iodide in vitro. Ref.25 Ref.26 Ref.28		VAR_027246

Sequences

	Sequence		Length	Mass (Da)
	O43511 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 3AEF5D720B155CE0	FASTA	780	85,723
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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

GeneReviews

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.
IPI	IPI00012842.
RefSeq	NP_000432.1. NM_000441.1.
UniGene	Hs.571246.
3D structure databases
ProteinModelPortal	O43511.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000265715.
PTM databases
PhosphoSite	O43511.
Proteomic databases
PaxDb	O43511.
PRIDE	O43511.
Protocols and materials databases
DNASU	5172.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265715; ENSP00000265715; ENSG00000091137.
GeneID	5172.
KEGG	hsa:5172.
UCSC	uc003vep.3. human.
Organism-specific databases
CTD	5172.
GeneCards	GC07P107301.
H-InvDB	HIX0006991.
HGNC	HGNC:8818. SLC26A4.
HPA	HPA042860.
MIM	274600. phenotype. 600791. phenotype. 605646. gene.
neXtProt	NX_O43511.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. 705. Pendred syndrome.
PharmGKB	PA35506.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0659.
HOGENOM	HOG000006546.
HOVERGEN	HBG000639.
InParanoid	O43511.
KO	K14702.
OMA	PSWNGLG.
OrthoDB	EOG4DFPN2.
PhylomeDB	O43511.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	O43511.
Bgee	O43511.
CleanEx	HS_SLC26A4.
Genevestigator	O43511.
GermOnline	ENSG00000091137. Homo sapiens.
Family and domain databases
Gene3D	3.30.750.24. 2 hits.
InterPro	IPR018045. S04_transporter_CS. IPR002645. STAS_dom. IPR001902. SulP_transpt. IPR011547. Sulph_transpt. [Graphical view]
Pfam	PF01740. STAS. 1 hit. PF00916. Sulfate_transp. 1 hit. [Graphical view]
SUPFAM	SSF52091. STAS. 1 hit.
TIGRFAMs	TIGR00815. sulP. 1 hit.
PROSITE	PS01130. SLC26A. 1 hit. PS50801. STAS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5172.
NextBio	20014.
SOURCE	Search...

Entry information

Entry name

S26A4_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 127 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.