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

OTOF Gene

protein-coding   GIFtS: 59
GCID: GC02M026591

Otoferlin


(Previous symbol: DFNB9)
  See 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)
About This Section

Aliases
otoferlin1 2     NSRD92 5
DFNB91 2 5     DFNB62
Fer-1-Like Protein 22 3     Otoferlin Transcript Variant 46-482
FER1L22 3     EC 2.7.10.18
AUNB12 5     EC 4.2.1.118

External Ids:    HGNC: 85151   Entrez Gene: 93812   Ensembl: ENSG000001151557   OMIM: 6036815   UniProtKB: Q9HC103   

Export aliases for OTOF gene to outside databases

Previous GC identifers: GC02M026601 GC02M026772 GC02M026654 GC02M026419


(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 OTOF Gene:
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the
encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans
spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests
that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for OTOF Gene: 
OTOF (otoferlin) is a protein-coding gene. Diseases associated with OTOF include otof-related deafness, and auditory neuropathy, autosomal recessive, 1. GO annotations related to this gene include molecular_function and calcium ion binding. An important paralog of this gene is FER1L6.

UniProtKB/Swiss-Prot: OTOF_HUMAN, Q9HC10
Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in
the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the
presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of
neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role
within the recycling of endosomes (By similarity)

Gene Wiki entry for OTOF 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OTOF gene promoter:
         PPAR-alpha   USF1   USF-1   USF2   USF-1:USF-2   Pax-4a   C/EBPalpha   E47   c-Ets-1   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 2p23.1   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.1

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M026591:  view genomic region     (about GC identifiers)

Start:
26,680,071 bp from pter      End:
26,781,566 bp from pter
Size:
101,496 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OTOF_HUMAN, Q9HC10 (See protein sequence)
Recommended Name: Otoferlin  
Size: 1997 amino acids; 226753 Da
Cofactor: Binds calcium ions. The ions are bound to the C2 1 domain (By similarity)
Subunit: Interacts with SNAP2; the interaction is direct. Interacts with STX1; the interaction is direct.
Interacts with RAB8B (By similarity)
Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type II
membrane protein (By similarity). Basolateral cell membrane; Single-pass type II membrane protein (By
similarity). Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Cell membrane;
Single-pass type II membrane protein (By similarity). Note=Detected at basolateral cell membrane with synaptic
vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs).
Colocalizes with GPR25 and RAB8B in inner hair cells (By similarity)
Sequence caution: Sequence=BAG58982.1; Type=Erroneous initiation;
Secondary accessions: B4DJX0 B5MCC1 B9A0H6 Q53R90 Q9HC08 Q9HC09 Q9Y650
Alternative splicing: 5 isoforms:  Q9HC10-1   Q9HC10-2   Q9HC10-3   Q9HC10-4   Q9HC10-5   (Ref.2 (AAG12992) sequence is in conflict in position: 21:P->L)

Explore the universe of human proteins at neXtProt for OTOF: NX_Q9HC10

Explore proteomics data for OTOF at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HC10

  • 2 DME Specific Peptides for OTOF (Q9HC10)
     EAHELRD  LKLPGKR 

    OTOF Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OTOF Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_004793.2  NP_919224.1  NP_919303.1  NP_919304.1  

    ENSEMBL proteins: 
     ENSP00000345137   ENSP00000344521   ENSP00000383906   ENSP00000272371   ENSP00000385255  
     ENSP00000389917  

    Human Recombinant Protein Products for OTOF: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for OTOF
    GenScript Custom Purified and Recombinant Proteins Services for OTOF
    Novus Biologicals OTOF Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OTOF 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol TAS10192385
    GO:0016021integral to membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0030054cell junction IEA--

    OTOF for ontologies           About GeneDecksing



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    Novus Biologicals OTOF Antibodies
    Abcam antibodies for OTOF
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    Search ThermoFisher Antibodies for OTOF
    LSBio Antibodies in human, mouse, rat for OTOF 

    Assay Products for OTOF: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for OTOF 
    Cloud-Clone Corp. CLIAs for OTOF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR012561 Ferlin_B-domain
     IPR012968 FerIin-domain
     IPR018029 C2_membr_targeting
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q9HC10

    ProtoNet protein and cluster: Q9HC10

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB012561 FerB
    IPB012968 FerI


    UniProtKB/Swiss-Prot: OTOF_HUMAN, Q9HC10
    Domain: The N-terminal first 124 residues can be classified as C2 domain, based on their 3D-structure. They are
    not sufficient for calcium ion or phospholipid binding (By similarity)
    Similarity: Belongs to the ferlin family
    Similarity: Contains 4 C2 domains


    OTOF for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OTOF_HUMAN, Q9HC10
    Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in
    the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the
    presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of
    neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role
    within the recycling of endosomes (By similarity)

         Genatlas biochemistry entry for OTOF:
    otoferlin C elegans a FER1-like homolog,mainly expressed in the cochlear inner hair cells and vestibular type I
    sensory hair cells,putatively involved in synaptic vesicular trafficking

         Enzyme Numbers (IUBMB): EC 2.7.10.12 EC 4.2.1.112

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding ----
         
    OTOF for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for OTOF:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Otof):
     behavior/neurological  hearing/vestibular/ear  nervous system  no phenotypic analysis 

    OTOF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for OTOF: Otoftm1.1Erei Otoftm1Ugds

       inGenious Targeting Laboratory - Custom generated mouse model solutions for OTOF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OTOF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OTOF 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OTOF 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidOTOF 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of OTOF

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for OTOF (see all 14)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): OTOF (NM_194323)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTOF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOF

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    Search LifeMap BioReagents cell lines for OTOF
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOF


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

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

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

    1 Interacting protein for OTOF (Q9HC103 ENSP000002723714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK39Q9UEW83, ENSP000003482784I2D: score=1 STRING: ENSP00000348278
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IEA--
    GO:0016079synaptic vesicle exocytosis ISS--
    GO:0061025membrane fusion TAS10192385

    OTOF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OTOF

    Search CenterWatch for drugs/clinical trials and news about OTOF

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OTOF gene (4 alternative transcripts): 
    NM_004802.3  NM_194248.2  NM_194322.2  NM_194323.2  

    Unigene Cluster for OTOF:

    Otoferlin
    Hs.91608  [show with all ESTs]
    Unigene Representative Sequence: AF183185
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338581(uc002rhh.3) ENST00000339598(uc002rhj.3) ENST00000402415(uc010yla.2 uc002rhi.3)
    ENST00000272371(uc002rhk.3) ENST00000403946(uc010ylb.1) ENST00000464574
    ENST00000426958
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidOTOF 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for OTOF
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): OTOF (NM_194323)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for OTOF
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOF

    Additional mRNA sequence: 

    AF107403.1 AF183185.1 AF183186.1 AF183187.1 AK296272.1 EU436745.1 EU436746.1 

    5 DOTS entries:

    DT.304406  DT.95126255  DT.95255661  DT.95255660  DT.95092061 

    18 AceView cDNA sequences:

    Z40109 BU631344 AF183187 AF183185 Z44079 BI915400 AF107403 NM_194323 
    NM_194248 AF183186 NM_194322 NM_004802 R51236 T27062 R19871 R45099 
    R51235 AL589440 

    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™, 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

    OTOF expression in normal human tissues (normalized intensities)      OTOF embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCCCAGA
    OTOF Expression
    About this image


    OTOF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Blood (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

    See OTOF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OTOF

    SOURCE GeneReport for Unigene cluster: Hs.91608

    UniProtKB/Swiss-Prot: OTOF_HUMAN, Q9HC10
    Tissue specificity: Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in
    adult brain, heart, placenta, skeletal muscle and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOF

    (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 animals.

    Orthologs for OTOF gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Otof1 , 5 otoferlin1, 5 88.66(n)1
    94.94(a)1
      5 (16.48 cM)5
    837621  NM_031875.21  NP_114081.21 
     303700765 
    chicken
    (Gallus gallus)
    Aves OTOF1 otoferlin 78.46(n)
    82.23(a)
      422007  XM_420015.3  XP_420015.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    OTOF6
    otoferlin
    84(a)
    74(a)
    possible ortholog
    1 ↔ 1
    GL343951.1(3986-30963)
    GL344743.1(1320-21663)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ619731.12   -- 73.96(n)    BJ619731.1 
    zebrafish
    (Danio rerio)
    Actinopterygii otof1 otoferlin 72.12(n)
    78.12(a)
      557476  NM_001030112.2  NP_001025283.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57473   -- 32(a)   66E3   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTOF gene
    FER1L62  MYOF2  DYSF2  
    2 SIMAP similar genes for OTOF using alignment to 2 protein entries:     OTOF_HUMAN (see all proteins):
    FER1L6    FER1L4

    OTOF for paralogs           About GeneDecksing



    (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) 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

    10/2688 SNPs in OTOF are shown (see all 2688)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0460034
    Auditory neuropathy, autosomal recessive, 1 (AUNB1)4--see VAR_0460032 Q H mis40--------
    VAR_0460084
    Auditory neuropathy, autosomal recessive, 1 (AUNB1)4--see VAR_0460082 F C mis40--------
    VAR_0358964
    A breast cancer sample4--see VAR_0358962 I V mis40--------
    VAR_0322284
    Deafness, autosomal recessive, 9 (DFNB9)4--see VAR_0322282 P Q mis40--------
    VAR_0358954
    A breast cancer sample4--see VAR_0358952 E K mis40--------
    VAR_0322344
    Deafness, autosomal recessive, 9 (DFNB9)4--see VAR_0322342 L P mis40--------
    VAR_0322424
    Auditory neuropathy, autosomal recessive, 1 (AUNB1)4--see VAR_0322422 P R mis40--------
    VAR_0460054
    Auditory neuropathy, autosomal recessive, 1 (AUNB1)4--see VAR_0460052 L P mis40--------
    VAR_0322414
    Auditory neuropathy, autosomal recessive, 1 (AUNB1)4--see VAR_0322412 R Q mis40--------
    VAR_0322294
    Deafness, autosomal recessive, 9 (DFNB9)4--see VAR_0322292 I T mis40--------

    HapMap Linkage Disequilibrium report for OTOF (26680071 - 26781566 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for OTOF:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv455952CNV Loss19166990
    nsv517800CNV Loss19592680
    nsv873749CNV Loss21882294
    nsv455941CNV Loss19166990
    esv33316CNV Loss17666407
    nsv817662CNV Loss17921354
    nsv819195CNV Gain19587683


    Human Gene Mutation Database (HGMD): OTOF

    Locus Specific Mutation Databases (LSDB): OTOF
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603681   
    OMIM disorders: 601071  
    UniProtKB/Swiss-Prot: OTOF_HUMAN, Q9HC10
  • Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]: 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
  • Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]: A form of sensorineural hearing loss
    with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell
    function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the
    inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the
    auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature
    sensitive. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for OTOF:    About MalaCards
    otof-related deafness    auditory neuropathy, autosomal recessive, 1    deafness, autosomal recessive 9    auditory neuropathy
    dfnb1    dysferlinopathy    nonsyndromic hearing loss and deafness, autosomal recessive    sensorineural hearing loss
    nonsyndromic deafness    neuropathy    muscular dystrophy    myopathy

    3 diseases from the University of Copenhagen DISEASES database for OTOF:
    Nonsyndromic deafness     Neuropathy     Sensorineural hearing loss

    OTOF for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for OTOF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfnb1 91.7 1 11101839 (1)
    deafness sensorineural 69.4 2 16097006 (1)
    hearing loss sensorineural 51.1 2 15253338 (2)
    hearing impaired 49.5 1 15253338 (1)
    muscular dystrophies 35.1 2 17386097 (1)

    GeneTests: OTOF
    GeneReviews: OTOF
    Genetic Association Database (GAD): OTOF
    Human Genome Epidemiology (HuGE) Navigator: OTOF (6 documents)

    Export disorders for OTOF 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 OTOF gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with OTOF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. (PubMed id 18381613)1, 2, 3, 4, 9 Rodriguez-Ballesteros M.... del Castillo I. (2008)
    2. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. (PubMed id 10192385)1, 2, 3, 9 Yasunaga S.... Petit C. (1999)
    3. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). (PubMed id 14635104)1, 4, 9 Rodriguez-Ballesteros M....del Castillo I. (2003)
    4. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. (PubMed id 16371502)1, 2, 9 Varga R.... Kimberling W.J. (2006)
    5. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. (PubMed id 10903124)1, 2, 9 Yasunaga S.... Petit C. (2000)
    6. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive au ditory neuropathy. (PubMed id 20504331)1, 4 Wang D.Y....Wang Q.J. (2010)
    7. Mutations in the OTOF Gene in Taiwanese Patients with Auditory Neuropathy. (PubMed id 20224275)1, 4 Chiu Y.H....Hsu C.J. (2010)
    8. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. (PubMed id 12114484)1, 2 Migliosi V.... Del Castillo I. (2002)
    9. Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. (PubMed id 12127154)1, 2 Mirghomizadeh F.... Blin N. (2002)
    10. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. (PubMed id 19250381)1, 9 Choi B.Y....Friedman T.B. (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: 9381 HGNC: 8515 AceView: OTOF Ensembl:ENSG00000115155 euGenes: HUgn9381
    ECgene: OTOF H-InvDB: OTOF

    (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 OTOF Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OTOF

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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