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Protein

Pendrin

Gene

SLC26A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Sodium-independent transporter of chloride and iodide.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTransport
LigandChloride

Enzyme and pathway databases

ReactomeiR-HSA-427601 Multifunctional anion exchangers
R-HSA-5619046 Defective SLC26A4 causes Pendred syndrome (PDS)
SIGNORiO43511

Protein family/group databases

TCDBi2.A.53.2.17 the sulfate permease (sulp) family

Names & Taxonomyi

Protein namesi
Recommended name:
Pendrin
Alternative name(s):
Sodium-independent chloride/iodide transporter
Solute carrier family 26 member 4
Gene namesi
Name:SLC26A4
Synonyms:PDS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000091137.11
HGNCiHGNC:8818 SLC26A4
MIMi605646 gene
neXtProtiNX_O43511

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 87CytoplasmicSequence analysisAdd BLAST87
Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109ExtracellularSequence analysis1
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Topological domaini131 – 135CytoplasmicSequence analysis5
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 191ExtracellularSequence analysisAdd BLAST35
Transmembranei192 – 212HelicalSequence analysisAdd BLAST21
Topological domaini213 – 218CytoplasmicSequence analysis6
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Topological domaini240 – 263ExtracellularSequence analysisAdd BLAST24
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 295CytoplasmicSequence analysisAdd BLAST11
Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
Topological domaini317 – 344ExtracellularSequence analysisAdd BLAST28
Transmembranei345 – 365HelicalSequence analysisAdd BLAST21
Topological domaini366 – 384CytoplasmicSequence analysisAdd BLAST19
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 421ExtracellularSequence analysisAdd BLAST16
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 448CytoplasmicSequence analysis6
Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Topological domaini470 – 486ExtracellularSequence analysisAdd BLAST17
Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Topological domaini508 – 780CytoplasmicSequence analysisAdd BLAST273

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Pendred syndrome (PDS)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:274600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02164029E → Q in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033205EnsemblClinVar.1
Natural variantiVAR_02164178Y → C in PDS. 2 Publications1
Natural variantiVAR_021643102G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication1
Natural variantiVAR_021645105Y → C in PDS. 2 PublicationsCorresponds to variant dbSNP:rs1442599990Ensembl.1
Natural variantiVAR_021646106A → D in PDS. 2 Publications1
Natural variantiVAR_021649133S → T in PDS. 2 PublicationsCorresponds to variant dbSNP:rs121908365EnsemblClinVar.1
Natural variantiVAR_021650137S → P in PDS. 1 Publication1
Natural variantiVAR_021651138V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 9 PublicationsCorresponds to variant dbSNP:rs111033199EnsemblClinVar.1
Natural variantiVAR_021652139G → A in PDS. 2 Publications1
Natural variantiVAR_011623193T → I in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033348EnsemblClinVar.1
Natural variantiVAR_021655271D → H in PDS. 2 Publications1
Natural variantiVAR_007444384E → G in PDS; also found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs111033244EnsemblClinVar.1
Natural variantiVAR_021657391S → N in PDS. 1 Publication1
Natural variantiVAR_021659409R → H in PDS. 5 PublicationsCorresponds to variant dbSNP:rs111033305EnsemblClinVar.1
Natural variantiVAR_021662411A → P in PDS. 1 Publication1
Natural variantiVAR_021668480V → D in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_027240508T → N in PDS. 1 Publication1
Natural variantiVAR_027241514Q → R in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033316EnsemblClinVar.1
Natural variantiVAR_021670530Y → H in PDS. 6 PublicationsCorresponds to variant dbSNP:rs111033254EnsemblClinVar.1
Natural variantiVAR_021671552S → I in PDS. 1 Publication1
Natural variantiVAR_021673556Y → H in PDS. 1 Publication1
Natural variantiVAR_021674565C → Y in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033257EnsemblClinVar.1
Natural variantiVAR_021676653V → A in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_007447667F → C in PDS. 1 PublicationCorresponds to variant dbSNP:rs121908360EnsemblClinVar.1
Natural variantiVAR_021677672G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant dbSNP:rs111033309EnsemblClinVar.1
Natural variantiVAR_021680694S → P in PDS. 1 PublicationCorresponds to variant dbSNP:rs981410021EnsemblClinVar.1
Natural variantiVAR_021681724D → N in PDS. 1 PublicationCorresponds to variant dbSNP:rs994170964EnsemblClinVar.1
Deafness, autosomal recessive, 4 (DFNB4)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600791
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02164290S → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs370588279EnsemblClinVar.1
Natural variantiVAR_027238123P → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs984967571Ensembl.1
Natural variantiVAR_021648132T → I in DFNB4. 1 Publication1
Natural variantiVAR_027239147M → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs760413427Ensembl.1
Natural variantiVAR_064991185R → T in DFNB4; also found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance; may affect subcellular location at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs542620119EnsemblClinVar.1
Natural variantiVAR_079503227A → P in DFNB4. 1 Publication1
Natural variantiVAR_021654252S → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1315422549Ensembl.1
Natural variantiVAR_064992281V → I in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs727505080EnsemblClinVar.1
Natural variantiVAR_007442369K → E in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs121908361EnsemblClinVar.1
Natural variantiVAR_007443372A → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs121908364EnsemblClinVar.1
Natural variantiVAR_021658392N → Y in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs201562855EnsemblClinVar.1
Natural variantiVAR_021660409R → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033305EnsemblClinVar.1
Natural variantiVAR_021667457N → K in DFNB4. 1 Publication1
Natural variantiVAR_021669490I → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs200511789EnsemblClinVar.1
Natural variantiVAR_007446497G → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033308EnsemblClinVar.1
Natural variantiVAR_064993558N → K in DFNB4. 1 Publication1
Natural variantiVAR_027244666S → F in DFNB4. 1 Publication1
Natural variantiVAR_021678676L → Q in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033318EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi5172
GeneReviewsiSLC26A4
MalaCardsiSLC26A4
MIMi274600 phenotype
600791 phenotype
OpenTargetsiENSG00000091137
Orphaneti95713 Athyreosis
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
705 Pendred syndrome
95720 Thyroid hypoplasia
PharmGKBiPA35506

Polymorphism and mutation databases

BioMutaiSLC26A4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000801641 – 780PendrinAdd BLAST780

Proteomic databases

PaxDbiO43511
PeptideAtlasiO43511
PRIDEiO43511
ProteomicsDBi49001

PTM databases

iPTMnetiO43511
PhosphoSitePlusiO43511

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000091137 Expressed in 129 organ(s), highest expression level in thyroid gland
CleanExiHS_SLC26A4
ExpressionAtlasiO43511 baseline and differential
GenevisibleiO43511 HS

Organism-specific databases

HPAiHPA042860

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000265715

Structurei

3D structure databases

ProteinModelPortaliO43511
SMRiO43511
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini535 – 729STASPROSITE-ProRule annotationAdd BLAST195

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0236 Eukaryota
COG0659 LUCA
GeneTreeiENSGT00760000119026
HOGENOMiHOG000006546
HOVERGENiHBG000639
InParanoidiO43511
KOiK14702
OMAiITLIQDC
OrthoDBiEOG091G07RT
PhylomeDBiO43511
TreeFamiTF313784

Family and domain databases

InterProiView protein in InterPro
IPR030285 Pendrin
IPR018045 S04_transporter_CS
IPR011547 SLC26A/SulP_dom
IPR001902 SLC26A/SulP_fam
IPR002645 STAS_dom
IPR036513 STAS_dom_sf
PANTHERiPTHR11814 PTHR11814, 1 hit
PTHR11814:SF33 PTHR11814:SF33, 1 hit
PfamiView protein in Pfam
PF01740 STAS, 1 hit
PF00916 Sulfate_transp, 1 hit
SUPFAMiSSF52091 SSF52091, 1 hit
TIGRFAMsiTIGR00815 sulP, 1 hit
PROSITEiView protein in PROSITE
PS01130 SLC26A, 1 hit
PS50801 STAS, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43511-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL
60 70 80 90 100
AKCCSCSRKR AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL
110 120 130 140 150
QGMAYALLAA VPVGYGLYSA FFPILTYFIF GTSRHISVGP FPVVSLMVGS
160 170 180 190 200
VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA RDTARVLIAS ALTLLVGIIQ
210 220 230 240 250
LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL NVSTKNYNGV
260 270 280 290 300
LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI
310 320 330 340 350
PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML
360 370 380 390 400
AASFSIAVVA YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC
410 420 430 440 450
FVATTALSRT AVQESTGGKT QVAGIISAAI VMIAILALGK LLEPLQKSVL
460 470 480 490 500
AAVVIANLKG MFMQLCDIPR LWRQNKIDAV IWVFTCIVSI ILGLDLGLLA
510 520 530 540 550
GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE EPQGVKILRF
560 570 580 590 600
SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT
610 620 630 640 650
KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV
660 670 680 690 700
PKVPIHSLVL DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI
710 720 730 740 750
EKLEQCGFFD DNIRKDTFFL TVHDAILYLQ NQVKSQEGQG SILETITLIQ
760 770 780
DCKDTLELIE TELTEEELDV QDEAMRTLAS
Length:780
Mass (Da):85,723
Last modified:June 1, 1998 - v1
Checksum:i3AEF5D720B155CE0
GO
Isoform 2 (identifier: O43511-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-431: Missing.

Note: No experimental confirmation available.
Show »
Length:349
Mass (Da):39,267
Checksum:i1A8E9A33DC1037BE
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JQG1C9JQG1_HUMAN
Pendrin
SLC26A4
131Annotation score:
A0A2R8Y4W7A0A2R8Y4W7_HUMAN
Pendrin
SLC26A4
251Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0649886G → V1 PublicationCorresponds to variant dbSNP:rs111033423EnsemblClinVar.1
Natural variantiVAR_02163824R → G in Pendred syndrome/deafness individuals. 1 PublicationCorresponds to variant dbSNP:rs1268256689Ensembl.1
Natural variantiVAR_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs539699299EnsemblClinVar.1
Natural variantiVAR_02164029E → Q in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033205EnsemblClinVar.1
Natural variantiVAR_02164178Y → C in PDS. 2 Publications1
Natural variantiVAR_02164290S → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs370588279EnsemblClinVar.1
Natural variantiVAR_06498999T → M1 PublicationCorresponds to variant dbSNP:rs141142414Ensembl.1
Natural variantiVAR_021643102G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication1
Natural variantiVAR_021644104A → V in Pendred syndrome/deafness individuals. 1 Publication1
Natural variantiVAR_021645105Y → C in PDS. 2 PublicationsCorresponds to variant dbSNP:rs1442599990Ensembl.1
Natural variantiVAR_021646106A → D in PDS. 2 Publications1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs145254330EnsemblClinVar.1
Natural variantiVAR_027238123P → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs984967571Ensembl.1
Natural variantiVAR_021648132T → I in DFNB4. 1 Publication1
Natural variantiVAR_021649133S → T in PDS. 2 PublicationsCorresponds to variant dbSNP:rs121908365EnsemblClinVar.1
Natural variantiVAR_021650137S → P in PDS. 1 Publication1
Natural variantiVAR_021651138V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 9 PublicationsCorresponds to variant dbSNP:rs111033199EnsemblClinVar.1
Natural variantiVAR_021652139G → A in PDS. 2 Publications1
Natural variantiVAR_064990144V → A Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772023020Ensembl.1
Natural variantiVAR_027239147M → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs760413427Ensembl.1
Natural variantiVAR_064991185R → T in DFNB4; also found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance; may affect subcellular location at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs542620119EnsemblClinVar.1
Natural variantiVAR_011623193T → I in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033348EnsemblClinVar.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant dbSNP:rs111033303EnsemblClinVar.1
Natural variantiVAR_079503227A → P in DFNB4. 1 Publication1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs80338848EnsemblClinVar.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs111033256EnsemblClinVar.1
Natural variantiVAR_021654252S → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs1315422549Ensembl.1
Natural variantiVAR_021655271D → H in PDS. 2 Publications1
Natural variantiVAR_064992281V → I in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs727505080EnsemblClinVar.1
Natural variantiVAR_053663301P → L. Corresponds to variant dbSNP:rs34373141Ensembl.1
Natural variantiVAR_053664324N → Y1 PublicationCorresponds to variant dbSNP:rs36039758EnsemblClinVar.1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 4 PublicationsCorresponds to variant dbSNP:rs111033212EnsemblClinVar.1
Natural variantiVAR_007442369K → E in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs121908361EnsemblClinVar.1
Natural variantiVAR_007443372A → V in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs121908364EnsemblClinVar.1
Natural variantiVAR_007444384E → G in PDS; also found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs111033244EnsemblClinVar.1
Natural variantiVAR_021657391S → N in PDS. 1 Publication1
Natural variantiVAR_021658392N → Y in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs201562855EnsemblClinVar.1
Natural variantiVAR_058580402V → M in PDS and DFNB4. 1 PublicationCorresponds to variant dbSNP:rs397516414EnsemblClinVar.1
Natural variantiVAR_021659409R → H in PDS. 5 PublicationsCorresponds to variant dbSNP:rs111033305EnsemblClinVar.1
Natural variantiVAR_021660409R → P in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033305EnsemblClinVar.1
Natural variantiVAR_021661410T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant dbSNP:rs111033220EnsemblClinVar.1
Natural variantiVAR_021662411A → P in PDS. 1 Publication1
Natural variantiVAR_007445416T → P in PDS and DFNB4; common mutation. 8 PublicationsCorresponds to variant dbSNP:rs28939086EnsemblClinVar.1
Natural variantiVAR_021663421Q → R in Pendred syndrome/deafness individuals. 1 PublicationCorresponds to variant dbSNP:rs201660407EnsemblClinVar.1
Natural variantiVAR_021664429Missing in Pendred syndrome/deafness individuals. 1 Publication1
Natural variantiVAR_011624445L → W in PDS and DFNB4; also found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 8 PublicationsCorresponds to variant dbSNP:rs111033307EnsemblClinVar.1
Natural variantiVAR_021665446Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 2 PublicationsCorresponds to variant dbSNP:rs768471577EnsemblClinVar.1
Natural variantiVAR_021666455I → F2 PublicationsCorresponds to variant dbSNP:rs375576481EnsemblClinVar.1
Natural variantiVAR_021667457N → K in DFNB4. 1 Publication1
Natural variantiVAR_021668480V → D in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_021669490I → L in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs200511789EnsemblClinVar.1
Natural variantiVAR_007446497G → S in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033308EnsemblClinVar.1
Natural variantiVAR_027240508T → N in PDS. 1 Publication1
Natural variantiVAR_027241514Q → R in PDS. 2 PublicationsCorresponds to variant dbSNP:rs111033316EnsemblClinVar.1
Natural variantiVAR_021670530Y → H in PDS. 6 PublicationsCorresponds to variant dbSNP:rs111033254EnsemblClinVar.1
Natural variantiVAR_027242530Y → S in PDS and DFNB4. 2 PublicationsCorresponds to variant dbSNP:rs747636919EnsemblClinVar.1
Natural variantiVAR_021671552S → I in PDS. 1 Publication1
Natural variantiVAR_021672556Y → C in PDS and DFNB4; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant dbSNP:rs763006761EnsemblClinVar.1
Natural variantiVAR_021673556Y → H in PDS. 1 Publication1
Natural variantiVAR_064993558N → K in DFNB4. 1 Publication1
Natural variantiVAR_021674565C → Y in PDS. 3 PublicationsCorresponds to variant dbSNP:rs111033257EnsemblClinVar.1
Natural variantiVAR_021675597L → S Found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; uncertain pathological significance. 7 PublicationsCorresponds to variant dbSNP:rs55638457EnsemblClinVar.1
Natural variantiVAR_027243609V → G2 PublicationsCorresponds to variant dbSNP:rs17154335EnsemblClinVar.1
Natural variantiVAR_021676653V → A in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_027244666S → F in DFNB4. 1 Publication1
Natural variantiVAR_007447667F → C in PDS. 1 PublicationCorresponds to variant dbSNP:rs121908360EnsemblClinVar.1
Natural variantiVAR_021677672G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant dbSNP:rs111033309EnsemblClinVar.1
Natural variantiVAR_021678676L → Q in DFNB4. 1 PublicationCorresponds to variant dbSNP:rs111033318EnsemblClinVar.1
Natural variantiVAR_021679683F → S in Pendred syndrome/deafness individuals. 1 PublicationCorresponds to variant dbSNP:rs1060499808Ensembl.1
Natural variantiVAR_053665687D → Y. Corresponds to variant dbSNP:rs35548413EnsemblClinVar.1
Natural variantiVAR_021680694S → P in PDS. 1 PublicationCorresponds to variant dbSNP:rs981410021EnsemblClinVar.1
Natural variantiVAR_007448721T → M in DFNB4 and PDS. 4 PublicationsCorresponds to variant dbSNP:rs121908363EnsemblClinVar.1
Natural variantiVAR_007449723H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 PublicationsCorresponds to variant dbSNP:rs121908362EnsemblClinVar.1
Natural variantiVAR_021681724D → N in PDS. 1 PublicationCorresponds to variant dbSNP:rs994170964EnsemblClinVar.1
Natural variantiVAR_027245740G → S. Corresponds to variant dbSNP:rs17154353EnsemblClinVar.1
Natural variantiVAR_080402775M → C Found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; requires 2 nucleotide substitutions; uncertain pathological significance. 1 Publication1
Natural variantiVAR_058581775M → T in PDS and DFNB4. 1 Publication1
Natural variantiVAR_027246776R → C Found at heterozygosity in a patient with hearing loss and unilateral enlargement of the vestibular aqueduct; unknown pathological significance; retains its ability to transport iodide in vitro. 4 PublicationsCorresponds to variant dbSNP:rs111033255EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0566881 – 431Missing in isoform 2. 1 PublicationAdd BLAST431

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030880 mRNA Translation: AAC51873.1
AK294388 mRNA Translation: BAH11752.1
AC002467 Genomic DNA Translation: AAB88773.2
AC078937 Genomic DNA No translation available.
CCDSiCCDS5746.1 [O43511-1]
RefSeqiNP_000432.1, NM_000441.1 [O43511-1]
XP_005250482.1, XM_005250425.2 [O43511-1]
UniGeneiHs.571246

Genome annotation databases

EnsembliENST00000265715; ENSP00000265715; ENSG00000091137 [O43511-1]
ENST00000644269; ENSP00000494017; ENSG00000091137 [O43511-1]
GeneIDi5172
KEGGihsa:5172
UCSCiuc003vep.4 human [O43511-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030880 mRNA Translation: AAC51873.1
AK294388 mRNA Translation: BAH11752.1
AC002467 Genomic DNA Translation: AAB88773.2
AC078937 Genomic DNA No translation available.
CCDSiCCDS5746.1 [O43511-1]
RefSeqiNP_000432.1, NM_000441.1 [O43511-1]
XP_005250482.1, XM_005250425.2 [O43511-1]
UniGeneiHs.571246

3D structure databases

ProteinModelPortaliO43511
SMRiO43511
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000265715

Protein family/group databases

TCDBi2.A.53.2.17 the sulfate permease (sulp) family

PTM databases

iPTMnetiO43511
PhosphoSitePlusiO43511

Polymorphism and mutation databases

BioMutaiSLC26A4

Proteomic databases

PaxDbiO43511
PeptideAtlasiO43511
PRIDEiO43511
ProteomicsDBi49001

Protocols and materials databases

DNASUi5172
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265715; ENSP00000265715; ENSG00000091137 [O43511-1]
ENST00000644269; ENSP00000494017; ENSG00000091137 [O43511-1]
GeneIDi5172
KEGGihsa:5172
UCSCiuc003vep.4 human [O43511-1]

Organism-specific databases

CTDi5172
DisGeNETi5172
EuPathDBiHostDB:ENSG00000091137.11
GeneCardsiSLC26A4
GeneReviewsiSLC26A4
H-InvDBiHIX0006991
HGNCiHGNC:8818 SLC26A4
HPAiHPA042860
MalaCardsiSLC26A4
MIMi274600 phenotype
600791 phenotype
605646 gene
neXtProtiNX_O43511
OpenTargetsiENSG00000091137
Orphaneti95713 Athyreosis
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
705 Pendred syndrome
95720 Thyroid hypoplasia
PharmGKBiPA35506
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0236 Eukaryota
COG0659 LUCA
GeneTreeiENSGT00760000119026
HOGENOMiHOG000006546
HOVERGENiHBG000639
InParanoidiO43511
KOiK14702
OMAiITLIQDC
OrthoDBiEOG091G07RT
PhylomeDBiO43511
TreeFamiTF313784

Enzyme and pathway databases

ReactomeiR-HSA-427601 Multifunctional anion exchangers
R-HSA-5619046 Defective SLC26A4 causes Pendred syndrome (PDS)
SIGNORiO43511

Miscellaneous databases

ChiTaRSiSLC26A4 human
GeneWikiiPendrin
GenomeRNAii5172
PROiPR:O43511
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000091137 Expressed in 129 organ(s), highest expression level in thyroid gland
CleanExiHS_SLC26A4
ExpressionAtlasiO43511 baseline and differential
GenevisibleiO43511 HS

Family and domain databases

InterProiView protein in InterPro
IPR030285 Pendrin
IPR018045 S04_transporter_CS
IPR011547 SLC26A/SulP_dom
IPR001902 SLC26A/SulP_fam
IPR002645 STAS_dom
IPR036513 STAS_dom_sf
PANTHERiPTHR11814 PTHR11814, 1 hit
PTHR11814:SF33 PTHR11814:SF33, 1 hit
PfamiView protein in Pfam
PF01740 STAS, 1 hit
PF00916 Sulfate_transp, 1 hit
SUPFAMiSSF52091 SSF52091, 1 hit
TIGRFAMsiTIGR00815 sulP, 1 hit
PROSITEiView protein in PROSITE
PS01130 SLC26A, 1 hit
PS50801 STAS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS26A4_HUMAN
AccessioniPrimary (citable) accession number: O43511
Secondary accession number(s): B7Z266, O43170
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: November 7, 2018
This is version 183 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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