OTOF

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OTOF
Identifiers
Aliases OTOF, AUNB1, DFNB6, DFNB9, FER1L2, NSRD9, otoferlin
External IDs MGI: 1891247 HomoloGene: 12892 GeneCards: OTOF
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for OTOF
Genomic location for OTOF
Band 2p23.3 Start 26,457,203 bp[1]
End 26,558,698 bp[1]
RNA expression pattern
PBB GE OTOF 220492 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001287489
NM_004802
NM_194248
NM_194322
NM_194323

NM_001100395
NM_001286421
NM_031875
NM_001313767

RefSeq (protein)

NP_001274418
NP_004793
NP_919224
NP_919303
NP_919304

NP_001093865
NP_001273350
NP_001300696
NP_114081

Location (UCSC) Chr 2: 26.46 – 26.56 Mb Chr 2: 30.37 – 30.46 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Otoferlin is a protein that in humans is encoded by the OTOF gene.[5][6][7]

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three 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 six 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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115155 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062372 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999). "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness". Nat Genet. 21 (4): 363–9. doi:10.1038/7693. PMID 10192385. 
  6. ^ Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (May 2008). "A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy". Hum Mutat. 29 (6): 823–31. doi:10.1002/humu.20708. PMID 18381613. 
  7. ^ a b "Entrez Gene: OTOF otoferlin". 

External links[edit]

Further reading[edit]