OTOF

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OTOF
Identifiers
Aliases OTOF, AUNB1, DFNB6, DFNB9, FER1L2, NSRD9, otoferlin
External IDs MGI: 1891247 HomoloGene: 12892 GeneCards: 9381
RNA expression pattern
PBB GE OTOF 220492 s at tn.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_001274418.1
NP_004793.2
NP_919224.1
NP_919303.1
NP_919304.1

NP_001093865.1
NP_001273350.1
NP_114081.2

Location (UCSC) Chr 2: 26.46 – 26.56 Mb Chr 5: 30.37 – 30.46 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Otoferlin is a protein that in humans is encoded by the OTOF gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: OTOF otoferlin". 

External links[edit]

Further reading[edit]