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    OTOF otoferlin [ Homo sapiens (human) ]

    Gene ID: 9381, updated on 13-Aug-2016
    Official Symbol
    OTOFprovided by HGNC
    Official Full Name
    otoferlinprovided by HGNC
    Primary source
    HGNC:HGNC:8515
    See related
    Ensembl:ENSG00000115155 HPRD:04727; MIM:603681; Vega:OTTHUMG00000096977
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AUNB1; DFNB6; DFNB9; NSRD9; FER1L2
    Summary
    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]
    Orthologs
    Location:
    2p23.1
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (26457203..26558698, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26680071..26781566, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene adhesion G protein-coupled receptor F3 Neighboring gene ethanolaminephosphotransferase 1 Neighboring gene dynein regulatory complex subunit 1 Neighboring gene chromosome 2 open reading frame 70 Neighboring gene calcium and integrin binding family member 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    NHGRI GWA Catalog
    Genome-wide association study of periodontal pathogen colonization.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fusion TAS
    Traceable Author Statement
    more info
    PubMed 
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    basal part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    otoferlin
    Names
    fer-1-like family member 2
    fer-1-like protein 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009937.1 RefSeqGene

      Range
      5001..106496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001287489.1NP_001274418.1  otoferlin isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region and uses a downstream stop codon compared to variant 1. It encodes isoform e which has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC093378, AF183185, AF183187, AK296272
      Consensus CDS
      CCDS74497.1
      UniProtKB/Swiss-Prot
      Q9HC10
      Related
      ENSP00000385255, OTTHUMP00000200816, ENST00000403946, OTTHUMT00000324493
      Conserved Domains (9) summary
      pfam08150
      Location:842919
      FerB; FerB (NUC096) domain
      pfam08151
      Location:339410
      FerI; FerI (NUC094) domain
      cd04011
      Location:251362
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:9601097
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:418567
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:14931616
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:3130
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:17331866
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      cl14603
      Location:11431220
      C2; C2 domain
    2. NM_004802.3NP_004793.2  otoferlin isoform b

      See identical proteins and their annotated locations for NP_004793.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b, also called 'short form 1') has a shorter N-terminus and lacks a segment compared to isoform a.
      Source sequence(s)
      AC093378, AF107403, AF183187
      Consensus CDS
      CCDS1726.1
      UniProtKB/Swiss-Prot
      Q9HC10
      Related
      ENSP00000345137, OTTHUMP00000122454, ENST00000338581, OTTHUMT00000214048
      Conserved Domains (6) summary
      cd04017
      Location:213350
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:726849
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:9661099
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:96170
      FerB; FerB (NUC096) domain
      pfam16165
      Location:11091195
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:396473
      C2; C2 domain
    3. NM_194248.2NP_919224.1  otoferlin isoform a

      See identical proteins and their annotated locations for NP_919224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC093378, AF183185, AF183187
      Consensus CDS
      CCDS1725.1
      UniProtKB/Swiss-Prot
      Q9HC10
      Related
      ENSP00000272371, OTTHUMP00000122453, ENST00000272371, OTTHUMT00000214047
      Conserved Domains (10) summary
      cd04011
      Location:251362
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:9601097
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:418567
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:14931616
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:3130
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:17331866
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:843917
      FerB; FerB (NUC096) domain
      pfam08151
      Location:360410
      FerI; FerI (NUC094) domain
      pfam16165
      Location:18761962
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:11431220
      C2; C2 domain
    4. NM_194322.2NP_919303.1  otoferlin isoform c

      See identical proteins and their annotated locations for NP_919303.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c, also called 'short form 2') has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC093378, AF183186, AF183187
      Consensus CDS
      CCDS46241.1
      UniProtKB/Swiss-Prot
      Q9HC10
      Related
      ENSP00000383906, OTTHUMP00000200815, ENST00000402415, OTTHUMT00000324492
      Conserved Domains (6) summary
      cd04017
      Location:270407
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:803926
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:10431176
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:153227
      FerB; FerB (NUC096) domain
      pfam16165
      Location:11861272
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:453530
      C2; C2 domain
    5. NM_194323.2NP_919304.1  otoferlin isoform d

      See identical proteins and their annotated locations for NP_919304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding region, as well as in the 3' coding region, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC093378, AF183185, AF183187
      Consensus CDS
      CCDS1724.1
      UniProtKB/Swiss-Prot
      Q9HC10
      Related
      ENSP00000344521, OTTHUMP00000122455, ENST00000339598, OTTHUMT00000214049
      Conserved Domains (6) summary
      cd04017
      Location:213350
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:726849
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:9661099
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam08150
      Location:96170
      FerB; FerB (NUC096) domain
      pfam16165
      Location:11091225
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:396473
      C2; C2 domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      26457203..26558698 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005338.1XP_016860827.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      26610235..26711604 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)