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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC26A5 Gene

protein-coding   GIFtS: 50
GCID: GC07M102993

solute carrier family 26, member 5 (prestin)

(Previous name: prestin (motor protein) )
(Previous symbol: PRES)
 Explore 23 diseases affiliated with
SLC26A5 via our new
 Human Malady Compendium 
Biological research products
for SLC26A5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 26, Member 5 (Prestin)1 2
PRES1 2 3 5
DFNB611 2 5
Prestin (Motor Protein)1 2
Prestin1
Solute Carrier Family 26 Member 53

External Ids:    HGNC: 93591   Entrez Gene: 3756112   Ensembl: ENSG000001706157   OMIM: 6049435   UniProtKB: P587433   

Export aliases for SLC26A5 gene to outside databases

Previous GC identifers: GC07M102588 GC07M102780 GC07M097355


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC26A5:
This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile
outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The
transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but
instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change
in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than
conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory
deafness. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq,
Nov 2009)

UniProtKB/Swiss-Prot: S26A5_HUMAN, P58743
Function: Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound
amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at
microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After
binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes
in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the
cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes
in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the
anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane
to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but
does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer
hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity)

Gene Wiki entry for SLC26A5 (Prestin)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC26A5 gene promoter:
         RFX1   Nkx2-2   Pax-6   HSF1 (long)   Lmo2   GATA-1   MZF-1   FOXJ2 (long isoform)   HSF2   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC26A5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC26A5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC26A5


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

SLC26A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC26A5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M102993:  view genomic region     (about GC identifiers)

Start:
102,993,177 bp from pter      End:
103,086,624 bp from pter
Size:
93,448 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 102,353,543-102,447,443     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S26A5_HUMAN, P58743 (See protein sequence)
Recommended Name: Prestin  
Size: 744 amino acids; 81264 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Note=Lateral wall of outer hair cells
(By similarity)
Secondary accessions: Q496J2 Q86UF8 Q86UF9 Q86UG0
Alternative splicing: 5 isoforms:  P58743-1   P58743-2   P58743-3   P58743-4   P58743-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC26A5: NX_P58743

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P58743

  • SLC26A5 Protein expression data from MOPED and PaxDb:    About this image 
    SLC26A5 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001161434.1  NP_945350.1  NP_996766.1  NP_996767.1  NP_996768.1  

    ENSEMBL proteins: 
     ENSP00000342396   ENSP00000349210   ENSP00000377336   ENSP00000304783   ENSP00000396833  
     ENSP00000416502   ENSP00000377331   ENSP00000389018   ENSP00000395568   ENSP00000377330  
     ENSP00000377328   ENSP00000377324   ENSP00000389733   ENSP00000346325  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC26A5

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016328lateral plasma membrane IEA--

    SLC26A5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC26A5


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC26A5 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P58743

    ProtoNet protein and cluster: P58743

    1 Blocks protein family: IPB001902 Sulphate transporter

    UniProtKB/Swiss-Prot: S26A5_HUMAN, P58743
    Similarity: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family
    Similarity: Contains 1 STAS domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S26A5_HUMAN, P58743
    Function: Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound
    amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at
    microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After
    binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes
    in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the
    cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes
    in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the
    anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane
    to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but
    does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer
    hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008271secondary active sulfate transmembrane transporter activity IEA--
    GO:0015116sulfate transmembrane transporter activity ----
    GO:0030507spectrin binding IEA--
         
    SLC26A5 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Slc26a5):
     growth/size  hearing/vestibular/ear  nervous system 

    SLC26A5 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Slc26a5tm1Jnz for SLC26A5
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC26A5 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC26A5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC26A5

    1 Interacting protein for SLC26A5 (P587433) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL21P467783I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IMP12719379
    GO:0008272sulfate transport IEA--
    GO:0008360regulation of cell shape IEA--
    GO:0042391regulation of membrane potential IEA--

    SLC26A5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC26A5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC26A5

    2 HMDB Compounds for SLC26A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    10/12 Novoseek chemical compound relationships for SLC26A5 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    salicylic acid 57.2 16 18560754 (4), 20388516 (2), 18225604 (1), 13679136 (1) (see all 7)
    chloride 47.2 9 15596517 (2), 11247665 (1), 15720248 (1), 11423665 (1) (see all 7)
    sulfate 35 4 17151276 (2), 15720248 (1), 11914518 (1)
    bicarbonate 32.1 6 15720248 (1), 11423665 (1), 17120772 (1), 11914518 (1) (see all 5)
    oxalate 30.6 3 15720248 (1), 11087667 (1)
    fructose 22.7 2 15720248 (1), 17120761 (1)
    mifepristone 20.9 2 9528977 (1)
    iodide 20.5 1 15720248 (1)
    formate 12.6 1 15720248 (1)
    lipid 0 4 17321873 (1), 19517190 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC26A5 / S26A5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC26A5 gene (5 alternative transcripts): 
    NM_001167962.1  NM_198999.2  NM_206883.2  NM_206884.2  NM_206885.2  

    Unigene Cluster for SLC26A5:

    Solute carrier family 26, member 5 (prestin)
    Hs.585146  [show with all ESTs]
    Unigene Representative Sequence: NM_198999
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339444(uc003vbt.2) ENST00000356767(uc003vbv.2) ENST00000393735(uc003vbu.2)
    ENST00000306312(uc003vbw.3 uc003vby.3 uc010liy.3 uc003vbz.3 uc003vbx.3)
    ENST00000445809 ENST00000454864 ENST00000393730 ENST00000423416 ENST00000456463
    ENST00000393729 ENST00000393727 ENST00000393723 ENST00000487407 ENST00000432958
    ENST00000354356

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC26A5:
    hsa-miR-551b*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF523354.1 AK126898.1 AY256823.1 AY256824.1 AY256825.1 AY289133.1 AY289134.1 BC100833.1 
    BC100834.1 

    5 DOTS entries:

    DT.100700749  DT.100741432  DT.100741433  DT.95290143  DT.100681889 

    13 AceView cDNA sequences:

    NM_206883 NM_206884 NM_198999 AF523354 AY256825 AY256824 AY256823 NM_206885 
    BX493225 AK126898 AY289133 AY289134 AW866709 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                                                      
    SP2:                                                        -                                             


    ECgene alternative splicing isoforms for SLC26A5

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC26A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAAAATATC
    SLC26A5 Expression
    About this image
    See SLC26A5 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.585146
        SABiosciences Custom PCR Arrays for SLC26A5

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC26A5

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC26A5 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC26A51 solute carrier family 26, member 5 (prestin) 65.6(n)
    60.39(a)
      417715  NM_001079477.1  NP_001072945.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC26A56
    --
    59(a)
    1 ↔ 1
    5(95425931-95457636)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.121432 Transcribed sequence with weak similarity to protein more 72.09(n)    BX705063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pres2 prestin 76.03(n)   322846  BC054604.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prestin1 CG5485-PA 47.7(n)
    35.12(a)
      39996  NM_140767.2  NP_649024.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sulp-71 Protein SULP-7 48.24(n)
    39.1(a)
      189195  NM_001038482.2  NP_001033571.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AST911 putative sulfate transporter 3.3 43.98(n)
    33.33(a)
      838917  NM_102157.3  NP_173722.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06524001 hypothetical protein 42.79(n)
    29.61(a)
      4337235  NM_001060633.1  NP_001054098.1 


    ENSEMBL Gene Tree for SLC26A5 (if available)
    TreeFam Gene Tree for SLC26A5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC26A5 gene
    SLC26A92  SLC26A32  SLC26A102  SLC26A72  SLC26A62  SLC26A42  SLC26A12  SLC26A22  
    SLC26A112  SLC26A82  
    12 SIMAP similar genes for SLC26A5 using alignment to 7 protein entries:     S26A5_HUMAN (see all proteins):
    PRES    RESDA1    SLC26A7    SLC26A6    SLC26A4    DKFZp686P10213
    SLC26A3    SLC26A9    SLC26A1    SLC26A10    SLC26A2    SLC26A11

    SLC26A5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1347 NCBI SNPs in SLC26A5 are shown (see all 1347    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs69754501,2
    C,F,A,H--102371875(+) GAGACG/AAGACT 3 -- int118Minor allele frequency- A:0.13NS EA NA WA CSA 2074
    rs106053551,2
    C--102372123(+) AATAC-/CTTTT 
            
    TTTAT
    3 -- int10--------
    rs624824101,2
    C,F--102372403(+) AAAGTG/ACTGGA 3 -- int12Minor allele frequency- A:0.50NA 4
    rs767680961,2
    --102373071(+) AAAGAG/CAGTGA 3 -- int13Minor allele frequency- C:0.15CSA WA NA 240
    rs69428761,2
    C,F,A,H--102373099(+) AACATC/GAACAC 3 -- int124Minor allele frequency- G:0.12NS EA NA CSA WA 2736
    rs358903691,2
    C--102373693(+) AAAAA-/ACACTA 3 -- int10--------
    rs786095521,2
    C,F--102373840(+) GAGAAG/AGGAAA 3 -- int11Minor allele frequency- A:0.02WA 118
    rs785241881,2
    --102374676(+) TTTATG/CTTCTT 5 -- int1 ds50012Minor allele frequency- C:0.19CSA WA 120
    rs283759131,2
    C,F,H--102374946(+) TTTCGA/GTGCTT 5 -- ds5001 int112Minor allele frequency- G:0.16NS NA CSA WA 1710
    rs743889291,2
    --102375075(+) TAGGCG/ATCATT 5 -- int1 ut311Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for SLC26A5 (102993177 - 103086624 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC26A5: --
    Human Gene Mutation Database (HGMD): SLC26A5

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    SLC26A5 for disorders           About GeneDecksing

    OMIM gene information: 604943    OMIM disorders: --

    UniProtKB/Swiss-Prot: S26A5_HUMAN, P58743
  • Defects in SLC26A5 are the cause of deafness autosomal recessive type 61 (DFNB61) [MIM:613865]. 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

    20/23 diseases for SLC26A5 (see all 23):    About MalaCards
    deafness, autosomal recessive 61    diastrophic dysplasia    pendred syndrome    hearing loss
    cortical blindness    atelosteogenesis    achondrogenesis    hepatitis b
    fainting    blindness    brain disease    eclampsia
    hepatocellular carcinoma    pharyngitis    hepatitis    cholesterol
    tuberculosis    thyroiditis    carcinoma    pancreatitis

    5 diseases from the University of Copenhagen DISEASES database for SLC26A5:
    Sensorineural hearing loss     Diastrophic dysplasia     Nonsyndromic deafness     Atelosteogenesis
    Achondrogenesis

    4 Novoseek disease relationships for SLC26A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diastrophic dysplasia 71.3 1 11247665 (1)
    pendred syndrome 68 1 11247665 (1)
    ototoxicity 54.7 1 17970566 (1)
    hepatitis b 34.9 6 8995631 (2), 9148003 (1), 17608857 (1)

    Genetic Association Database (GAD): SLC26A5
    Human Genome Epidemiology (HuGE) Navigator: SLC26A5 (5 documents)

    Export disorders for SLC26A5 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)
    About This Section

    PubMed articles for SLC26A5 gene, integrated from 9 sources (see all 123):
    (articles sorted by number of sources associating them with SLC26A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. (PubMed id 12719379)1, 2, 9 Liu X.Z.... Chen Z.-Y. (2003)
    2. Prestin is the motor protein of cochlear outer hair cells. (PubMed id 10821263)1, 3, 9 Zheng J....Dallos P. (2000)
    3. High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. (PubMed id 16086836)1, 4, 9 Tang H.Y....Alford R.L. (2005)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. DNA sequence analysis of SLC26A5, encoding prestin, i n a patient-control cohort: identification of fourteen novel DNA sequence varia tions. (PubMed id 19492055)1, 9 Minor J.S....Alford R.L. (2009)
    6. Cysteine mutagenesis reveals transmembrane residues a ssociated with charge translocation in prestin. (PubMed id 19926791)1, 9 McGuire R.M....Raphael R.M. (2010)
    7. A new mutation in the human pres gene and its effect on prestin function. (PubMed id 17786286)1, 9 Toth T....Sziklai I. (2007)
    8. Essential helix interactions in the anion transporter domain of prestin revealed by evolutionary trace analysis. (PubMed id 17151276)1, 9 Rajagopalan L....Pereira F.A. (2006)
    9. N-linked glycosylation sites of the motor protein prestin: effects on membrane targeting and electrophysiological function. (PubMed id 15140192)1, 9 Matsuda K....Dallos P. (2004)
    10. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. (PubMed id 19027966)1, 9 Teek R....Ounap K. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 375611 HGNC: 9359 AceView: PRES Ensembl:ENSG00000170615 euGenes: HUgn375611
    ECgene: SLC26A5 H-InvDB: SLC26A5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC26A5 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt022.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC26A5 gene:
    Search GeneIP for patents involving SLC26A5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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