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SLC26A5 Gene

protein-coding   GIFtS: 51
GCID: GC07M102993

Solute Carrier Family 26 (Anion Exchanger), Member 5

(Previous name: prestin (motor protein))
(Previous symbol: PRES)
  See SLC26A5-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 51 2     deafness1
PRES1 2 3 5     neurosensory1
Prestin (Motor Protein)1 2     DFNB612
611     prestin2
Autosomal Recessive1     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC26A5 Gene:
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)

GeneCards Summary for SLC26A5 Gene:
SLC26A5 (solute carrier family 26 (anion exchanger), member 5) is a protein-coding gene. Diseases associated with SLC26A5 include dfnb61 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive 61. GO annotations related to this gene include spectrin binding and secondary active sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A9.

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) 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 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 Chromatin IP Primers for SLC26A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: S26A5_HUMAN, P58743 (See protein sequence)
Recommended Name: Prestin  
Size: 744 amino acids; 81264 Da
Secondary accessions: Q496J2 Q7Z7F3 Q86UF8 Q86UF9 Q86UG0
Alternative splicing: 6 isoforms:  P58743-1   P58743-2   P58743-3   P58743-4   P58743-5   P58743-6   (No experimental confirmation available)

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

Explore proteomics data for SLC26A5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn163, Asn166
  • Modification sites at PhosphoSitePlus

  • See SLC26A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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   ENSP00000396833   ENSP00000416502  
     ENSP00000377331   ENSP00000304783   ENSP00000389018   ENSP00000395568   ENSP00000377330  
     ENSP00000377328   ENSP00000377324   ENSP00000389733   ENSP00000346325  

    SLC26A5 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC26A5 

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SLC26A5 


    (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: Prestin
    Other SLC26 anion 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 P58743

    ProtoNet protein and cluster: P58743

    1 Blocks protein domain: 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


    Find genes that share domains with SLC26A5           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: 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:    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--
         
    Find genes that share ontologies with SLC26A5           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Slc26a5):
     growth/size/body  hearing/vestibular/ear  nervous system 

    Find genes that share phenotypes with SLC26A5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc26a5tm1Jnz for SLC26A5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC26A5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC26A5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC26A5

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SLC26A5:
    hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSLC26A5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC26A5

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    GenScript: all cDNA clones in your preferred vector (see all 5): SLC26A5 (NM_206883)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC26A5


    (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
    S26A5_HUMAN, P58743: Cell membrane; Multi-pass membrane protein (By similarity). Note=Lateral wall of outer hair
    cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016328lateral plasma membrane IEA--

    Find genes that share ontologies with SLC26A5           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC26A5
    Interactions:

        Search GeneGlobe Interaction Network for SLC26A5

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for SLC26A5 (P587433 ENSP000003047834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL21P467783I2D: score=5 
    NDUFAB1ENSP000000075164STRING: ENSP00000007516
    PSMC2ENSP000002926444STRING: ENSP00000292644
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IMP12719379
    GO:0008272sulfate transport ----
    GO:0008360regulation of cell shape IEA--
    GO:0042391regulation of membrane potential IEA--
    GO:0055085transmembrane transport ----

    Find genes that share ontologies with SLC26A5           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 SLC26A5 (S26A5)

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with SLC26A5           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 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)
    ENST00000445809 ENST00000454864 ENST00000393730 ENST00000306312(uc003vbw.3 uc003vby.3 uc010liy.3 uc003vbz.3 uc003vbx.3)
    ENST00000423416 ENST00000456463 ENST00000393729 ENST00000393727 ENST00000393723
    ENST00000487407 ENST00000432958 ENST00000354356
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    1 qRT-PCR Assays for microRNA that regulate SLC26A5:
    hsa-miR-551b*
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC26A5
      QuantiFast Probe-based Assays in human, mouse, rat SLC26A5

    Additional mRNA 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:

    AY256825 NM_206884 AY256823 NM_206883 AF523354 NM_206885 AY256824 NM_198999 
    AK126898 AY289133 BX493225 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™, 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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    SLC26A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAAATATC
    SLC26A5 Expression
    About this image


    SLC26A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    SLC26A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC26A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.585146
        Custom PCR Arrays for SLC26A5
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    QuantiFast Probe-based Assays in human, mouse, rat SLC26A5
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC26A5 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc26a51 , 5 solute carrier family 26, member 51, 5 87.86(n)1
    95.03(a)1
      5 (9.97 cM)5
    809791  NM_030727.41  NP_109652.31 
     218106555 
    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
    solute carrier family 26 (anion exchanger), member...
    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 Prestin 47.85(n)
    35.54(a)
      39996  NM_140767.2  NP_649024.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sulp-81 sulp-8 50.3(n)
    39.96(a)
      179357  NM_001269200.1  NP_001256129.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AST911 AST91 44.58(n)
    35.13(a)
      838917  NM_102157.3  NP_173722.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06524001 Os04g0652400 43.29(n)
    30.08(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)
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    Paralogs for SLC26A5 gene
    SLC26A92  SLC26A32  SLC26A62  SLC26A12  SLC26A112  SLC26A22  SLC26A102  SLC26A72  
    SLC26A42  SLC26A82  
    12 SIMAP similar genes for SLC26A5 using alignment to 7 protein entries:     S26A5_HUMAN (see all proteins):
    PRES    RESDA1    SLC26A7    SLC26A4    SLC26A6    DKFZp686P10213
    SLC26A3    SLC26A9    SLC26A1    SLC26A10    SLC26A2    SLC26A11

    Find genes that share paralogs with SLC26A5           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 SLC26A5 (see all 2002)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114394851,2
    C--102361979(+) AAAAGA/-AAAAA 3 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs770229041,2
    C--102369741(+) TCAAC-/AG/GA 
            
    ATCTC
    3 -- int10--------
    rs586229851,2
    C--102369742(+) CAACA-/AG/GA 
            
    TCTCT
    3 -- int11NA 2
    rs1996100931,2
    C--102372405(+) AGTAC-/GGATTA 3 -- int10--------
    rs665074211,2
    C--102396157(+) GGTCTT/-TTTTT 5 -- int11Minor allele frequency- -:0.00NA 2
    rs724333501,2
    C--102396315(+) GTATG-/TATA  
            
    TATAT
    5 -- int10--------
    rs125382341,2
    C,H--102396316(+) TATGTA/GTATAT 5 -- int10--------
    rs669061611,2
    C--102396331(-) AATTT-/ATA/TA
    TA
    /TTTATA
    TATAT
    15 -- int1 cds11NA 2
    rs720684821,2
    C--103012143(+) AATAAT/-TTTTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs599609191,2
    C--103022380(+) ACACA-/CATCACG 5 -- int10--------

    HapMap Linkage Disequilibrium report for SLC26A5 (102993177 - 103086624 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC26A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5885CNV Insertion18451855
    nsv5884CNV Insertion18451855

    Human Gene Mutation Database (HGMD): SLC26A5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC26A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC26A5

    (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: 604943   
    OMIM disorders: 613865  
    UniProtKB/Swiss-Prot: S26A5_HUMAN, P58743
  • Deafness, autosomal recessive, 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for SLC26A5:    
    About MalaCards
    dfnb61 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 61    atelosteogenesis    diastrophic dysplasia
    achondrogenesis    deafness, autosomal recessive 76    pendred syndrome

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

    Find genes that share disorders with SLC26A5           About GenesLikeMe

    4 Novoseek inferred 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)
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    PubMed articles for SLC26A5 gene, integrated from 10 sources (see all 126):
    (articles sorted by number of sources associating them with SLC26A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variations. (PubMed id 19492055)1, 4, 9 Minor J.S....Alford R.L. (PLoS ONE 2009)
    2. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. (PubMed id 12719379)1, 2, 9 Liu X.Z.... Chen Z.-Y. (Hum. Mol. Genet. 2003)
    3. Splice variant IVS2-2A&gt;G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. (PubMed id 19027966)1, 4, 9 Teek R....Ounap K. (Int. J. Pediatr. Otorhinolaryngol. 2009)
    4. Prestin is the motor protein of cochlear outer hair cells. (PubMed id 10821263)1, 3, 9 Zheng J....Dallos P. (Nature 2000)
    5. High frequency of the IVS2-2A&gt;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. (BMC Med. Genet. 2005)
    6. Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. (PubMed id 20668687)1, 4 Rodriguez-Paris J....Schrijver I. (PLoS ONE 2010)
    7. Genetic analysis of presbycusis by arrayed primer extension. (PubMed id 18988928)1, 4 Rodriguez-Paris J....Schrijver I. (Ann. Clin. Lab. Sci. 2008)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. Cysteine mutagenesis reveals transmembrane residues associated with charge translocation in prestin. (PubMed id 19926791)1, 9 McGuire R.M....Raphael R.M. (J. Biol. Chem. 2010)
    10. A new mutation in the human pres gene and its effect on prestin function. (PubMed id 17786286)1, 9 Toth T....Sziklai I. (Int. J. Mol. Med. 2007)

    (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: 375611 HGNC: 9359 AceView: PRES Ensembl:ENSG00000170615 euGenes: HUgn375611
    ECgene: SLC26A5 H-InvDB: SLC26A5

    (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 SLC26A5 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/022

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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