SLC26A4

Protein name: PDS, Pendrin, SLC26A4 Aliases: N/D Substrates: I-, Cl-, HCO3- Transport type: Exchanger / I-, Cl-, HCO3- Tissue and cellular expression: cochlear, vestibular, epithelial cells, thyrocytes, type B intercalated cell, airway epithelial cell Subcellular expression: apical Disease: Pendred syndrome, deafness (DFNB4), enlargement of the vestibular acqueduct Locus: 7q31 Sequence ID: NP_000432.1, NM_000441.1 Gene ID: 5172 Splice variants: 1 mRNA, 1 ORF

S26A4_HUMAN (UniProt)

Gene names: SLC26A4, PDS
Protein names and data: S26A4_HUMAN, Full=Pendrin, Full=Sodium-independent chloride/iodide transporter;Full=Solute carrier family 26 member 4; Length: 780 a.a., Mass: 85723 Da,
fasta formatted sequence
Function: Sodium-independent transporter of chloride and iodide
Disease: (OMIM: 274600 600791 605646) Defects in SLC26A4 are a cause of Pendred syndrome (PDS) [MIM:274600]. PDS is an autosomal recessive disorder characterized by congenital sensorineural hearing loss combined 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; Defects in SLC26A4 are the cause of deafness autosomal recessive type 4 (DFNB4) [MIM:600791]; also known as vestibular aqueduct syndrome (EVA). DFNB4 is a form of 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
Cellular 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

Database cross-references

UniProt: O43511
NextBio: 20014
OMIM: 274600 600791 605646
Ensembl: ENST00000265715
GeneCard: GC07P107660
PharmGenUCSF: SLC26A4
Guide to Pharmacology: SLC26A4 (1100)
Chloride/bicarbonate exchangers (1100)
HGNC: HGNC:8818

Genetic variants

See also Ensembl:ENST00000265715

6 - 6 G -> V (in dbSNP:rs111033423). VAR_064988 111033423
24 - 24 R -> G (in Pendred syndrome/deafness individuals). VAR_021638
28 - 28 S -> R (in PDS and DFNB4). VAR_021639
29 - 29 E -> Q (in PDS). VAR_021640
78 - 78 Y -> C (in PDS). VAR_021641
90 - 90 S -> L (in DFNB4). VAR_021642
99 - 99 T -> M. VAR_064989
102 - 102 G -> R (in PDS; fails to localize to cell membrane; abolishes iodide transport). VAR_021643
104 - 104 A -> V (in Pendred syndrome/deafness individuals). VAR_021644
105 - 105 Y -> C (in PDS). VAR_021645
106 - 106 A -> D (in PDS). VAR_021646
117 - 117 L -> F (in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport). VAR_021647
123 - 123 P -> S (in DFNB4). VAR_027238
132 - 132 T -> I (in DFNB4). VAR_021648
133 - 133 S -> T (in PDS). VAR_021649
137 - 137 S -> P (in PDS). VAR_021650
138 - 138 V -> F (in PDS; fails to localize to cell membrane; abolishes iodide transport). VAR_021651
139 - 139 G -> A (in PDS). VAR_021652
144 - 144 V -> A (found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance). VAR_064990
147 - 147 M -> V (in DFNB4). VAR_027239
185 - 185 R -> T (found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance). VAR_064991
193 - 193 T -> I (in PDS). VAR_011623
209 - 209 G -> V (in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane). VAR_007440
236 - 236 L -> P (in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport). VAR_007441
239 - 239 V -> D (in PDS and DFNB4). VAR_021653
252 - 252 S -> P (in DFNB4). VAR_021654
271 - 271 D -> H (in PDS). VAR_021655
281 - 281 V -> I (in DFNB4). VAR_064992
301 - 301 P -> L (in dbSNP:rs34373141). VAR_053663 34373141
324 - 324 N -> Y (in dbSNP:rs36039758). VAR_053664 36039758
335 - 335 F -> L (in PDS and DFNB4). VAR_021656
369 - 369 K -> E (in DFNB4). VAR_007442
372 - 372 A -> V (in DFNB4). VAR_007443
384 - 384 E -> G (in PDS and PDS/DFNB4). VAR_007444
391 - 391 S -> N (in PDS). VAR_021657
392 - 392 N -> Y (in DFNB4). VAR_021658
402 - 402 V -> M (in PDS and DFNB4). VAR_058580
409 - 409 R -> H (in PDS). VAR_021659
409 - 409 R -> P (in DFNB4). VAR_021660
410 - 410 T -> M (in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport). VAR_021661
411 - 411 A -> P (in PDS). VAR_021662
416 - 416 T -> P (in PDS and DFNB4; common mutation; dbSNP:rs28939086). VAR_007445 28939086
421 - 421 Q -> R (in Pendred syndrome/deafness individuals). VAR_021663
429 - 429 Missing (in Pendred syndrome/deafness individuals). VAR_021664
445 - 445 L -> W (in PDS and DFNB4). VAR_011624
446 - 446 Q -> R (in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport). VAR_021665
455 - 455 I -> F (in DFNB4). VAR_021666
457 - 457 N -> K (in DFNB4). VAR_021667
480 - 480 V -> D (in PDS; retains residual transport function). VAR_021668
490 - 490 I -> L (in DFNB4). VAR_021669
497 - 497 G -> S (in DFNB4). VAR_007446
508 - 508 T -> N (in PDS). VAR_027240
514 - 514 Q -> R (in PDS). VAR_027241
530 - 530 Y -> H (in PDS). VAR_021670
530 - 530 Y -> S (in PDS and DFNB4). VAR_027242
552 - 552 S -> I (in PDS). VAR_021671
556 - 556 Y -> C (in PDS; partially affects protein localization to cell membrane; abolishes iodide transport). VAR_021672
556 - 556 Y -> H (in PDS). VAR_021673
558 - 558 N -> K (in DFNB4). VAR_064993
565 - 565 C -> Y (in PDS). VAR_021674
597 - 597 L -> S (in dbSNP:rs55638457). VAR_021675 55638457
609 - 609 V -> G (in dbSNP:rs17154335). VAR_027243 17154335
653 - 653 V -> A (in PDS; retains residual transport function). VAR_021676
666 - 666 S -> F (in DFNB4). VAR_027244
667 - 667 F -> C (in PDS). VAR_007447
672 - 672 G -> E (in PDS; partially affects protein localization to cell membrane; abolishes iodide transport). VAR_021677
676 - 676 L -> Q (in DFNB4). VAR_021678
683 - 683 F -> S (in Pendred syndrome/deafness individuals). VAR_021679
687 - 687 D -> Y (in dbSNP:rs35548413). VAR_053665 35548413
694 - 694 S -> P (in PDS). VAR_021680
721 - 721 T -> M (in DFNB4 and PDS). VAR_007448
723 - 723 H -> R (in DFNB4 and PDS; common mutation in Korea and Japan). VAR_007449
724 - 724 D -> N (in PDS). VAR_021681
740 - 740 G -> S (in dbSNP:rs17154353). VAR_027245 17154353
775 - 775 M -> T (in PDS and DFNB4). VAR_058581
776 - 776 R -> C (retains its ability to transport iodide in vitro). VAR_027246

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