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OTOF otoferlin [ Homo sapiens (human) ]

Gene ID: 9381, updated on 3-Mar-2019

Summary

Official Symbol
OTOFprovided by HGNC
Official Full Name
otoferlinprovided by HGNC
Primary source
HGNC:HGNC:8515
See related
Ensembl:ENSG00000115155 MIM:603681
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See OTOF in Genome Data Viewer
Location:
2p23.3
Exon count:
48
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 selenoprotein I Neighboring gene dynein regulatory complex subunit 1 Neighboring gene chromosome 2 open reading frame 70 Neighboring gene calcium and integrin binding family member 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
Process Evidence Code Pubs
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
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
 

General protein information

Preferred Names
otoferlin
Names
fer-1-like family member 2
fer-1-like protein 2

NCBI Reference Sequences (RefSeq)

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
    ENSP00000385255.3, ENST00000403946.7
    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:18761992
    Ferlin_C; Ferlin C-terminus
    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
    ENSP00000345137.6, ENST00000338581.10
    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
    ENSP00000272371.2, ENST00000272371.6
    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
    ENSP00000383906.4, ENST00000402415.8
    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
    ENSP00000344521.3, ENST00000339598.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017005338.1XP_016860827.1  otoferlin isoform X1

    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:14731596
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:3130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:17131846
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    pfam08150
    Location:843917
    FerB; FerB (NUC096) domain
    pfam08151
    Location:360410
    FerI; FerI (NUC094) domain
    pfam16165
    Location:18561942
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:11431220
    C2; C2 domain
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