Property Summary

NCBI Gene PubMed Count 221
Grant Count 152
R01 Count 97
Funding $22,156,313.51
PubMed Score 426.85
PubTator Score 424.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Synonym

Accession O43511 B7Z266 O43170
Symbols EVA
PDS
DFNB4
TDH2B

Gene

PANTHER Protein Class (1)

 GWAS Trait (1)

Gene RIF (204)

PMID Text
27082237 Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia
26663044 Data suggest that ombined hearing screening and genetic screening of gap junction protein beta 2 (GJB2), mtDNA 12srRNA and solute carrier family 26, member 4 protein SLC26A4 mutations can improve the rate of detection.
26549381 A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands.
26397989 GJB2 and SLC26A4 mutations are associated with good post-implant outcomes.
26313899 Anoctamin and pendrin are two plausible candidates as mediators of apical iodide efflux--{review}
26285906 Data suggest that SLC26A4, SLC5A5 (sodium-iodide symporter), and SLC5A8 (sodium-coupled monocarboxylate transporter 1), the 3 known iodide transporters, are important in breast tissue metabolism in lactation and in breast neoplasms. [REVIEW]
26252218 exon sequencing of GJB2, SLC26A4, and mtDNA12SrRNA reveals that non-syndromic deafness in Xiamen, China appears to have a genetic etiology
26188157 An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India.
26143180 Increased expression of the epithelial anion transporter pendrin/SLC26A4 in nasal polyps of patients with chronic rhinosinusitis
26100058 Presence of mono-allelic mutations of SLC26A4 in non-syndromic enlarged vestibular aqueduct patients is etiologically associated with this disorder.
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AA Sequence

MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVP      1 - 70
ILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGP     71 - 140
FPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGF    141 - 210
IVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIV    211 - 280
VCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEML    281 - 350
AASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT    351 - 420
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSI    421 - 490
ILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVD    491 - 560
GFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIP    561 - 630
TKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVI    631 - 700
EKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDV    701 - 770
QDEAMRTLAS                                                                771 - 780
//

Text Mined References (223)

PMID Year Title
27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
26663044 2015 [Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns].
26549381 2015 A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.
26397989 2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
26313899 2015 Pendrin and anoctamin as mediators of apical iodide efflux in thyroid cells.
26285906 2015 Iodide transport and breast cancer.
26252218 2015 Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
26188157 2015 Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
26143180 2015 Increased expression of the epithelial anion transporter pendrin/SLC26A4 in nasal polyps of patients with chronic rhinosinusitis.
26100058 2015 Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.
More...