Solute Carrier Family 26, Member 4

Alternative Names

  • SLC26A4
  • Pendrin
  • PDS Gene
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OMIM Number

605646

NCBI Gene ID

5172

Uniprot ID

O43511

Length

56,982 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Pendrin

Molecular Mass

85723 Da

Amino Acid Count

780

Genomic Location

chr7:107,660,827-107,717,808

Gene Map Locus
7q31

Description

The SCL26A4 gene has been implicated in both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct, EVA) hearing loss. Pendred syndrome is characterized by congenital deafness, goiter, and temporal bone abnormalities in the inner ear.

The SLC26A4 gene encodes for pendrin, a protein that has been shown to have homology with sulfate transporters. However, it does not function as a sulfate transporter, as was initially thought. Instead, pendrin acts as a transport protein exchanging chloride for other anions, such as iodide in the thyroid gland or bicarbonate in the inner ear.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000441.1:c.1002-9A>CUnited Arab EmiratesNC_000007.14:g.107689044A>CBenign, Likely BenignBenignNG_008489.1:g.33410A>C; NM_000441.1:c.1002-9A>C; NP_000432.1:p.?1023482243489
NM_000441.1:c.1341+1delPalestinechr7:107694481PathogenicPathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductNG_008489.1:g.38847del; NM_000441.1:c.1341+1del39751641743505
NM_000441.1:c.-66C>GUnited Arab EmiratesNC_000007.14:g.107660793C>GLikely BenignBenignNG_008489.1:g.5159C>G; NM_000441.1:c.-66C>G; NP_000432.1:p.?1715428243488
NM_000441.2:c.1001G>TPalestinechr7:107683537PathogenicPathogenicPendred SyndromeNG_008489.1:g.27903G>T; NM_000441.2:c.1001G>T; NP_000432.1:p.Gly334Val146281367189039
NM_000441.2:c.1061T>CUnited Arab EmiratesNC_000007.14:g.107689112T>CLikely Benign, Likely Pathogenic, Uncertain SignificanceLikely BenignNG_008489.1:g.33478T>C; NM_000441.2:c.1061T>C; NP_000432.1:p.Phe354Ser11103324343492
NM_000441.2:c.1150G>CUnited Arab EmiratesNC_000007.14:g.107690124G>CLikely PathogenicPendred Syndrome; Deafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductNG_008489.1:g.34490G>C; NM_000441.2:c.1150G>C; NP_000432.1:p.Glu384Gln
NM_000441.2:c.1211C>TUnited Arab EmiratesNC_000007.14:g.107690185C>TLikely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductNG_008489.1:g.34551C>T; NM_000441.2:c.1211C>T; NP_000432.1:p.Thr404Ile868614504
NM_000441.2:c.1265T>CUnited Arab EmiratesNC_000007.14:g.107694404T>CLikely Pathogenic, Uncertain SignificanceNG_008489.1:g.38770T>C; NM_000441.2:c.1265T>C; NP_000432.1:p.Val422Ala1057520369378599
NM_000441.2:c.1334T>GTunisiachr7:107694473PathogenicPathogenicPendred SyndromeNG_008489.1:g.38839T>G; NM_000441.2:c.1334T>G; NP_000432.1:p.Leu445Trp1110333074829
NM_000441.2:c.1488C>TUnited Arab EmiratesNC_000007.14:g.107695983C>TBenign, Likely BenignBenignNG_008489.1:g.40349C>T; NM_000441.2:c.1488C>T; NP_000432.1:p.Leu496=7740709443509
NM_000441.2:c.1790T>CUnited Arab EmiratesNC_000007.14:g.107701183T>CBenign, Likely Benign, Uncertain SignificanceBenignNG_008489.1:g.45549T>C; NM_000441.2:c.1790T>C; NP_000432.1:p.Leu597Ser5563845743525
NM_000441.2:c.1826T>GUnited Arab EmiratesNC_000007.14:g.107701849T>GBenign, Likely BenignBenignNG_008489.1:g.46215T>G; NM_000441.2:c.1826T>G; NP_000432.1:p.Val609Gly1715433543526
NM_000441.2:c.2029C>TLebanonchr7:107702052Uncertain SignificanceNG_008489.1:g.46418C>T; NM_000441.2:c.2029C>T; NP_000432.1:p.Arg677Trp397516426179690
NM_000441.2:c.2130C>TUnited Arab EmiratesNC_000007.14:g.107710094C>TBenign, Likely BenignBenignNG_008489.1:g.54460C>T; NM_000441.2:c.2130C>T; NP_000432.1:p.Asp710=1715434743538
NM_000441.2:c.2174_2177dupUnited Arab EmiratesNC_000007.14:g.107710138_107710141dupPathogenicLikely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductNG_008489.1:g.54504_54507dup; NM_000441.2:c.2174_2177dup; NP_000432.1:p.Leu727TyrfsTer281421964916851431
NM_000441.2:c.2218G>AUnited Arab EmiratesNC_000007.14:g.107710182G>ABenign, Likely BenignBenignNG_008489.1:g.54548G>A; NM_000441.2:c.2218G>A; NP_000432.1:p.Gly740Ser1715435343544
NM_000441.2:c.2272_2273insCTTUnited Arab EmiratesNC_000007.14:g.107712575_107712576insCTTUncertain SignificanceNG_008489.1:g.56941_56942insCTT; NM_000441.2:c.2272_2273insCTT; NP_000432.1:p.Glu757_Leu758insSer7676713441174655
NM_000441.2:c.716T>APalestine; United Arab...NC_000007.14:g.107675060T>ALikely Pathogenic, PathogenicLikely Pathogenic, PathogenicPendred Syndrome; Deafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductNG_008489.1:g.19426T>A; NM_000441.2:c.716T>A; NP_000432.1:p.Val239Asp11103325643566
NM_000441.2:c.849G>CUnited Arab EmiratesNC_000007.14:g.107683285G>CBenign, Likely BenignBenignNG_008489.1:g.27651G>C; NM_000441.2:c.849G>C; NP_000432.1:p.Met283Ile146348818165247

Other Reports

Palestine

Dossena et al. (2011) performed functional analysis to characterize of the ion transport activity of three pendrin mutations that Walsh et al. (2006) previously found in deaf Palestinian patients with EVA. Results indicated that both the Cl(-)/I(-) and the Cl(-)/OH(-) exchange activities of pendrin V239D and G334V X335 mutations were significantly reduced with respect to the wild type, with V239D displaying a residual iodide transport. Dossena et al. (2011) postulated that the residual function displayed by the V239D mutation could lead to the amelioration of the symptoms caused by this mutation due to a pendrin 'activator'.

Tunisia

To evaluate the contribution of the PDS gene (SLC26A4) in the genetic susceptibility of autoimmune thyroid disease (AITD), Hadj Kacem et al. (2003) examined 4 microsatellite markers in the gene region. They genotyped 233 unrelated AITD patients, 15 multiplex AITD families, and 154 normal controls. Analysis of case-control data showed a significant association of D7S496 and D7S2459 with Graves disease and Hashimoto thyroiditis, respectively. The family-based association test showed significant association and linkage between AITDs and alleles 121 bp of D7S496 and 173 bp of D7S501. Results obtained by transmission disequilibrium test were in good agreement with those obtained by the family-based association test. Indeed, evidence for linkage and association of allele 121 bp of D7S496 with AITD was confirmed (P = 0.0114). The authors concluded that SLC26A4 should be considered a susceptibility gene to AITDs with varying contributions in each pathology.

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