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SLC26A4 Gene

protein-coding   GIFtS: 60
GCID: GC07P107301

Solute Carrier Family 26 (Anion Exchanger), Member 4

(Previous names: solute carrier family 26, member 4)
(Previous symbol: DFNB4)
  See SLC26A4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 26 (Anion Exchanger), Member 41 2     Sodium-Independent Chloride/Iodide Transporter2 3
DFNB41 2 5     EVA2 5
PDS2 3 5     TDH2B2 5
Solute Carrier Family 26, Member 41 2     Solute Carrier Family 26 Member 43
pendrin1 2     

External Ids:    HGNC: 88181   Entrez Gene: 51722   Ensembl: ENSG000000911377   OMIM: 6056465   UniProtKB: O435113   

Export aliases for SLC26A4 gene to outside databases

Previous GC identifers: GC07P105784 GC07P106847 GC07P106861 GC07P106895 GC07P107088 GC07P101661


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC26A4 Gene:
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an
autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures
and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SLC26A4 Gene:
SLC26A4 (solute carrier family 26 (anion exchanger), member 4) is a protein-coding gene. Diseases associated with SLC26A4 include deafness, autosomal recessive 4, with enlarged vestibular aqueduct, and slc26a4-related pendred syndrome. GO annotations related to this gene include secondary active sulfate transmembrane transporter activity and chloride transmembrane transporter activity. An important paralog of this gene is SLC26A9.

UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
Function: Sodium-independent transporter of chloride and iodide

Gene Wiki entry for SLC26A4 (Pendrin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC26A4 gene promoter:
         Nkx3-1   Nkx3-1 v1   HNF-1A   E47   AREB6   Nkx3-1 v2   HNF-1   Nkx3-1 v3   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC26A4 promoter sequence
   Search Chromatin IP Primers for SLC26A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC26A4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q31

SLC26A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC26A4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P107301:  view genomic region     (about GC identifiers)

Start:
107,301,080 bp from pter      End:
107,358,254 bp from pter
Size:
57,175 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 106,662,192-106,719,369     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511 (See protein sequence)
Recommended Name: Pendrin  
Size: 780 amino acids; 85723 Da
Secondary accessions: O43170

Explore the universe of human proteins at neXtProt for SLC26A4: NX_O43511

Explore proteomics data for SLC26A4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC26A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000432.1  
    ENSEMBL proteins: 
     ENSP00000265715   ENSP00000394760   ENSP00000439743   ENSP00000437427   ENSP00000441209  
    Reactome Protein details: O43511

    SLC26A4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Pendrin
    Chloride/bicarbonate exchangers

    4 InterPro protein domains:
     IPR002645 STAS_dom
     IPR018045 S04_transporter_CS
     IPR001902 SulP_transpt
     IPR011547 Sulph_transpt

    Graphical View of Domain Structure for InterPro Entry O43511

    ProtoNet protein and cluster: O43511

    1 Blocks protein domain: IPB001902 Sulphate transporter

    UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
    Similarity: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family
    Similarity: Contains 1 STAS domain


    Find genes that share domains with SLC26A4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S26A4_HUMAN, O43511
    Function: Sodium-independent transporter of chloride and iodide

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008271secondary active sulfate transmembrane transporter activity IEA--
    GO:0015108chloride transmembrane transporter activity IEA--
    GO:0015111iodide transmembrane transporter activity IEA--
    GO:0015116sulfate transmembrane transporter activity TAS9398842
         
    Find genes that share ontologies with SLC26A4           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Slc26a4):
     behavior/neurological  endocrine/exocrine gland  hearing/vestibular/ear  homeostasis/metabolism  nervous system 
     pigmentation  renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with SLC26A4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC26A4: Slc26a4tm1Egr Slc26a4tm1Sole

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC26A4
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC26A4 (see all 27):
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    SwitchGear 3'UTR luciferase reporter plasmidSLC26A4 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S26A4_HUMAN, O43511: Membrane; Multi-pass membrane protein (Probable). Cell membrane; Multi-pass membrane
    protein. Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion2
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane ISS--
    GO:0031526brush border membrane ISS--

    Find genes that share ontologies with SLC26A4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC26A4 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Multifunctional anion exchangers0.00
    2Insulin secretion
    Thyroid hormone synthesis0.36


    Find genes that share SuperPaths with SLC26A4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC26A4
        Multifunctional anion exchangers


    1 Kegg Pathway  (Kegg details for SLC26A4):
        Thyroid hormone synthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC26A4
    Interactions:

        GeneGlobe Interaction Network for SLC26A4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC26A4 (ENSP000002657154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFAB1ENSP000000075164STRING: ENSP00000007516
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006821chloride transport ----
    GO:0006885regulation of pH ISS--
    GO:0007605sensory perception of sound TAS10192399
    GO:0008272sulfate transport TAS9398842

    Find genes that share ontologies with SLC26A4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC26A4 (S26A4)

    2 HMDB Compounds for SLC26A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    SodiumSodium (see all 2)7440-23-5--

    Selected Novoseek inferred chemical compound relationships for SLC26A4 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iodide 91.3 140 14715652 (9), 15155570 (5), 11932316 (3), 19196800 (3) (see all 55)
    sodium iodide 84.1 21 19050049 (2), 11575851 (2), 11932316 (1), 19014326 (1) (see all 12)
    perchlorate 82 9 15279074 (3), 10602116 (1), 17697873 (1), 11700190 (1) (see all 6)
    iodine 70.9 12 18283249 (2), 15858240 (1), 17940114 (1), 9920104 (1) (see all 6)
    chloride 65 68 15155570 (5), 10644529 (4), 16260428 (3), 16914891 (2) (see all 31)
    sulfate 54 26 10192399 (4), 10803474 (4), 9398842 (3), 11573133 (1) (see all 12)
    sodium 45.9 19 11454507 (2), 11720877 (2), 16042141 (1), 17381352 (1) (see all 13)
    bicarbonate 38.6 12 11274445 (3), 15720248 (1), 20298745 (1), 18322141 (1) (see all 7)
    formate 32.1 8 10644529 (4), 15720248 (1), 17131260 (1), 10644505 (1)
    thiocyanate 24.5 1 17404297 (1)



    Find genes that share compounds with SLC26A4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC26A4 gene: 
    NM_000441.1  

    Unigene Cluster for SLC26A4:

    Solute carrier family 26, member 4
    Hs.571246  [show with all ESTs]
    Unigene Representative Sequence: NM_000441
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265715(uc003vep.3 uc011kmb.2 uc011kmc.2 uc011kmd.2)
    ENST00000440056 ENST00000477350 ENST00000497446 ENST00000480841 ENST00000460748
    ENST00000492030 ENST00000541474 ENST00000544569 ENST00000543100
    miRNA
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    hsa-miR-498 hsa-miR-495 hsa-miR-520d-5p hsa-miR-181c hsa-miR-1271 hsa-miR-410 hsa-miR-548a-3p hsa-miR-511
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    Additional mRNA sequence: 

    AF030880.1 AK294388.1 AK298543.1 AK300604.1 

    2 DOTS entries:

    DT.408690  DT.102821049 

    19 AceView cDNA sequences:

    BX486815 AF030880 NM_000441 AI695233 AI139968 CA945256 BX953700 BG718763 
    AI286141 AA385554 BX487622 CB986316 AU117234 AA897348 AU144128 AA653057 
    H23053 AW891838 BI005285 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC26A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC26A4 Expression
    About this image


    SLC26A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Epithelial Cells
             Type B cells Renal Collecting Duct System
     
     Kidney (Urinary System)
             Type B cells Renal Collecting Duct System
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Brain (Nervous System)
             Hippocampus
    SLC26A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC26A4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.571246

    UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
    Tissue specificity: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain.
    Not expressed in other tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC26A4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SLC26A4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc26a41 , 5 solute carrier family 26, member 41, 5 85.38(n)1
    87.56(a)1
      12 (13.53 cM)5
    239851  NM_011867.31  NP_035997.11 
     315198275 
    chicken
    (Gallus gallus)
    Aves SLC26A41 solute carrier family 26, member 4 74.91(n)
    75.77(a)
      427845  XM_425419.4  XP_425419.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC26A46
    solute carrier family 26 (anion exchanger), member...
    74(a)
    1 ↔ 1
    5(97522383-97553742)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144812 Xenopus laevis transcribed sequence with weak similarity more 75.76(n)    BJ075017.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc26a41 solute carrier family 26, member 4 61.53(n)
    58.61(a)
      563818  NM_001165915.1  NP_001159387.1 


    ENSEMBL Gene Tree for SLC26A4 (if available)
    TreeFam Gene Tree for SLC26A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC26A4 gene
    SLC26A92  SLC26A32  SLC26A62  SLC26A12  SLC26A52  SLC26A112  SLC26A22  SLC26A102  
    SLC26A72  SLC26A82  
    13 SIMAP similar genes for SLC26A4 using alignment to 6 protein entries:     S26A4_HUMAN (see all proteins):
    SLC26A3    DKFZp686P10213    RESDA1    SLC26A6    SLC26A10    PRES
    SLC26A7    SLC26A11    SLC26A5    SLC26A9    SLC26A2    SLC26A1
    SLC26A8

    Find genes that share paralogs with SLC26A4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC26A4 (see all 1509)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452543301,2,,4
    CPendred syndrome (PDS)4 --110671544(+) ATGGTC/TTCTAC 2 L F mis11Minor allele frequency- T:0.00EU 1323
    rs1110332121,2,,4
    C,FPendred syndrome (PDS)4 pathogenic1110688419(+) CTAGGT/CTTTTG 2 /L /F mis12Minor allele frequency- C:0.00NA EU 5873
    rs2015628551,2,,4
    Deafness, autosomal recessive, 4 (DFNB4)4 --110689513(+) TCAGCA/TACATC 2 N Y mis10--------
    rs289390861,2,,4
    CPendred syndrome (PDS)4 pathogenic1110689585(+) AGAGCA/CCTGGA 2 T P mis1 ese31Minor allele frequency- C:0.00NA 4552
    rs1219083621,2,,4
    CPendred syndrome (PDS)4 pathogenic1110709495(+) GGTCCA/GTGATG 2 H R mis10--------
    VAR_0216734
    Pendred syndrome (PDS)4--see VAR_0216732 Y H mis40--------
    VAR_0272404
    Pendred syndrome (PDS)4--see VAR_0272402 T N mis40--------
    VAR_0216504
    Pendred syndrome (PDS)4--see VAR_0216502 S P mis40--------
    VAR_0216434
    Pendred syndrome (PDS)4--see VAR_0216432 G R mis40--------
    VAR_0216684
    Pendred syndrome (PDS)4--see VAR_0216682 V D mis40--------

    HapMap Linkage Disequilibrium report for SLC26A4 (107301080 - 107358254 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC26A4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734988CNV Deletion23290073
    nsv518018CNV Loss19592680

    Human Gene Mutation Database (HGMD): SLC26A4
    Locus Specific Mutation Databases (LSDB): SLC26A4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC26A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC26A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605646   
    OMIM disorders: 274600  600791  
    UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
  • 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
  • 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

  • 15 diseases for SLC26A4:    
    About MalaCards
    deafness, autosomal recessive 4, with enlarged vestibular aqueduct    slc26a4-related pendred syndrome    pendred syndrome/dfnb4    pendred syndrome
    mondini dysplasia    hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia    acromesomelic dysplasia, hunter-thompson type    enlarged vestibular aqueduct
    enlarged vestibular aqueduct, digenic    congenital chloride diarrhea    multinodular goiter    autosomal recessive disease
    goiter    deafness, autosomal recessive 76    follicular thyroid carcinoma

    8 diseases from the University of Copenhagen DISEASES database for SLC26A4:
    Enlarged vestibular aqueduct     Sensorineural hearing loss     Nonsyndromic deafness     Goiter
    Hodgkin's lymphoma, nodular sclerosis     Hypothyroidism     Renal tubular acidosis     Autosomal recessive disease

    Find genes that share disorders with SLC26A4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC26A4 gene (see all 34)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pendred syndrome 99.2 164 19648736 (4), 9920104 (4), 12788906 (4), 11573133 (3) (see all 86)
    dfnb4 95.5 20 19287372 (4), 18285825 (2), 10861298 (2), 19648736 (1) (see all 12)
    enlarged vestibular aqueduct syndrome 93.1 7 19545464 (1), 19565036 (1), 17886676 (1), 10861298 (1) (see all 6)
    goiter 88.9 35 9920104 (3), 16914891 (2), 15279074 (2), 16791000 (2) (see all 22)
    ear malformation 88.1 27 18167283 (2), 19040761 (2), 18538122 (1), 18585793 (1) (see all 8)
    hearing loss sensorineural 85.9 25 16914891 (2), 11919333 (2), 18067822 (2), 18641518 (1) (see all 16)
    deafness sensorineural 85.8 7 19196800 (1), 19565036 (1), 17659500 (1), 15279074 (1) (see all 5)
    congenital deafness 82.4 7 17886676 (2), 10602116 (1), 10644505 (1), 18051563 (1) (see all 5)
    goiter congenital 76.5 1 16042141 (1)
    hypothyroidism 66.6 3 16914891 (1), 16791000 (1)

    GeneTests: SLC26A4
    GeneReviews: SLC26A4
    Genetic Association Database (GAD): SLC26A4
    Human Genome Epidemiology (HuGE) Navigator: SLC26A4 (53 documents)

    Export disorders for SLC26A4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC26A4 gene, integrated from 10 sources (see all 295):
    (articles sorted by number of sources associating them with SLC26A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? (PubMed id 19204907)1, 2, 4, 9 Choi B.Y.... Griffith A.J. (Hum. Mutat. 2009)
    2. A novel mutation in the pendrin gene associated with Pendred's syndrome. (PubMed id 10718825)1, 2, 4, 9 Bogazzi F....Bartalena L. (Clin. Endocrinol. (Oxf.) 2000)
    3. Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA). (PubMed id 20597900)1, 2, 4 Pourova R....Seeman P. (Ann. Hum. Genet. 2010)
    4. A mutation in PDS causes non-syndromic recessive deafness. (PubMed id 9500541)1, 2, 3 Li X.C.... Wilcox E.R. (Nat. Genet. 1998)
    5. [Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. (PubMed id 18167283)1, 4, 9 Chen D.Y....Fang F.D. (Zhonghua Yi Xue Za Zhi 2007)
    6. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. (PubMed id 19648736)1, 4, 9 Wu C.C....Hsu C.J. (amp 2010)
    7. [Sequencing analysis of whole SLC26A4 gene related to IVS7-2A &gt; G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. (PubMed id 19954013)1, 4, 9 Yuan Y.Y....Huang D.L. (Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2009)
    8. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. (PubMed id 19040761)1, 4, 9 Dai P....Wong L.J. (J Transl Med 2008)
    9. 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. (PubMed id 14508505)1, 2, 9 Tsukamoto K.... Usami S. (Eur. J. Hum. Genet. 2003)
    10. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (PubMed id 11919333)1, 2, 9 Fugazzola L.... Beck-Peccoz P. (Pediatr. Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5172 HGNC: 8818 AceView: SLC26A4 Ensembl:ENSG00000091137 euGenes: HUgn5172
    ECgene: SLC26A4 Kegg: 5172 H-InvDB: SLC26A4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC26A4 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC26A4[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=S&genename=SLC26A4+%40+PDS
    Wikipedia http://en.wikipedia.org/wiki/Pendrin
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/133

    (Patent information from GeneIP,
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    Patent Information for SLC26A4 gene:
    Search GeneIP for patents involving SLC26A4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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