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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)
 Explore 11 diseases affiliated with
OTOF via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for OTOF    

Aliases
for OTOF gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Otoferlin1     AUNB12 5
FER1L21 2 3     NSRD92 5
DFNB91 2 5     Otoferlin Transcript Variant 46-482
DFNB61 2     EC 2.7.10.18
Fer-1-Like Protein 22 3     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


Summaries
for OTOF gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
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

Proteins
for OTOF gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HC10

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

    OTOF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals OTOF Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for OTOF

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol TAS10192385
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--


    OTOF for ontologies           About GeneDecksing



    OTOF Antibody Products: 
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    Uscn Antibodies for OTOF
    Search ThermoFisher Antibodies for OTOF

    Assay Products for OTOF: 
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    Uscn ELISAs and CLIAs for OTOF

    Protein Domains /
    Families
    for OTOF gene

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

    5 InterPro domains/families:
     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 families:
    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


    Function
    for OTOF gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

         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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTOF
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate OTOF
    SwitchGear 3'UTR luciferase reporter plasmid: OTOF 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOF (see all 4)
    OriGene shRNA RFP: OTOF
    OriGene siRNA: OTOF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTOF

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for OTOF

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOF (see all 6)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOF 

    Cell Line
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    Search LifeMap BioReagents cell lines for OTOF

    In Situ Assay
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    Gene Ontology (GO): 2 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--


    OTOF for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for OTOF gene

    (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 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:0006944cellular membrane fusion TAS10192385
    GO:0007605sensory perception of sound IEA--
    GO:0016079synaptic vesicle exocytosis ISS--


    OTOF for ontologies           About GeneDecksing



    Drugs & Compounds
    for OTOF gene

    (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
    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 

    Transcripts
    for OTOF gene

    (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, 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 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 plasmid: OTOF 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOF (see all 4)
    OriGene shRNA RFP: OTOF
    OriGene siRNA: OTOF
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTOF
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOF (see all 4)
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    GenScript: all cDNA clones in your preferred vector (see all 4): OTOF (NM_194323)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTOF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOF 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OTOF
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOF

    Additional cDNA 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:

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

    GeneLoc Exon Structure


    Expression
    for OTOF gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTTCCCAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    OTOF expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for OTOF
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    In Situ
    Assay Products:     
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    Orthologs
    for OTOF gene

    (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 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves OTOF1 otoferlin 78.46(n)
    82.23(a)    		   422007  XM_420015.3  XP_420015.2 
    lizard
    (Anolis carolinensis)    		 Reptilia OTOF6
    --
    		 --
    		 77(a)
    75(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343951.1(3986-30935)
    GL344743.1(1320-21499)
    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   --
    worm
    (Caenorhabditis elegans)    		 Secernentea fer-16
    ferl-16
    		 FER-1 Like family member (ferl-1)
    		 18(a)
    15(a)
    		 possible ortholog
    possible ortholog
    		 I(8623011-8631178)
    I(5455733-5459526)


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

    Paralogs
    for OTOF gene

    (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



    Genomic Variants
    for OTOF gene

    (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

    10/2143 NCBI SNPs in OTOF are shown (see all 2143)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs617472751,2
    		C,F,non-pathogenic26423912(-) CCCTTC/TGACTA 8 F syn14Minor allele frequency- T:0.02NS WA NA EU 6005
    rs170053711,2
    		C,F,H,non-pathogenic26426967(+) AGAGGG/ACCCAG 8 /P /S mis1 ese322Minor allele frequency- A:0.17NA NS EA WA CSA EU 7785
    rs803565781,2
    		C,F,non-pathogenic26427778(-) CACCGC/TGCCAC 8 R syn12Minor allele frequency- T:0.00NA EU 5875
    rs22720711,2
    		C,F,H,non-pathogenic26427868(+) ACAGCC/TACCGT 8 V syn127Minor allele frequency- T:0.06EA NA NS WA EU 10327
    rs803565761,2
    		C,F,non-pathogenic26432724(-) CCAGAC/GGAGAG 8 D E mis12Minor allele frequency- G:0.00NA EU 5875
    rs412887731,2
    		C,F,non-pathogenic26434706(+) ACGGCA/CGCGCC 6 G C int1 mis13Minor allele frequency- C:0.01NA EU 5727
    rs560545341,2
    		C,F,non-pathogenic26435580(-) GCCACG/AGGTGG 8 /Q /R mis12Minor allele frequency- A:0.01NA EU 5867
    rs803565741,2
    		C,F,non-pathogenic26436614(-) GCAACG/CCCACA 8 /P /A mis13Minor allele frequency- C:0.02WA NA EU 5681
    rs803565731,2
    		C,F,non-pathogenic26436671(-) GAGGCG/ATACTG 8 /A syn13Minor allele frequency- A:0.02WA NA EU 5981
    rs43359051,2
    		C,F,A,non-pathogenic26438317(+) AGGTAG/CAGCTC 8 /L syn112Minor allele frequency- C:0.49NA WA CSA EA EU 5505

    HapMap Linkage Disequilibrium report for OTOF (26680071 - 26781566 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for OTOF
         3 CNVs: 58977 7261 9924
    Human Gene Mutation Database (HGMD): OTOF

    Locus Specific Mutation Databases (LSDB): OTOF

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOF
    DNA2.0 Custom Variant and Variant Library Synthesis for OTOF

    Disorders / Diseases
    for OTOF gene

    (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
    OTOF for disorders           About GeneDecksing

    OMIM gene information: 603681   
    OMIM disorders: 601071  
    UniProtKB/Swiss-Prot: OTOF_HUMAN, Q9HC10
  • Defects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9) [MIM:601071]. DFNB9 is a form of
    • 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
  • Defects in OTOF are a cause of auditory neuropathy, autosomal recessive, type 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

    11 diseases for OTOF:    About MalaCards
    auditory neuropathy, autosomal recessive, 1    deafness, autosomal recessive 9    otof-related deafness    auditory neuropathy
    dfnb1    hearing loss    sensorineural hearing loss    dysferlinopathy
    neuropathy    myopathy    malaria

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

    5 Novoseek 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
    OTOF-Related Deafness

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

    Export disorders for OTOF gene to outside databases

    Publications
    for OTOF gene

    (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 53):
    (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, 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. 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)
    7. 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)
    8. 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)
    9. Novel OTOF mutations in Brazilian patients with audit ory neuropathy. (PubMed id 19461658)1, 9 Romanos J....Mingroni-Netto R.C. (2009)
    10. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! (PubMed id 20230791)1, 9 Marlin S....Denoyelle F. (2010)

    External Searches for OTOF gene

    (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)

    Genome Databases showing OTOF gene

    (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

    Other Databases showing OTOF gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OTOF gene

    (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

    Intellectual Property
    for OTOF gene

    (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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    About This Section

     
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