Sequence Detail

ID/Version

Q9ESF1 Q9ESF2 A3KLM3 B2RWU0 Q8CCE7 (UniProt | EBI)

Last sequence update: 2001-03-01
Last annotation update: 2023-11-08

Sequence description from provider

RecName: Full=Otoferlin;AltName: Full=Fer-1-like protein 2;AltName: Full=Protein pachanga {ECO:0000303|PubMed:17329413};

Provider

SWISS-PROT

Sequence

Polypeptide 1997 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Otof	otoferlin	28	98	4	26

Sequence references in MGI

J:69074 Yasunaga S, et al., OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet. 2000 Sep;67(3):591-600
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:116097 Roux I, et al., Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell. 2006 Oct 20;127(2):277-89
J:119820 Schwander M, et al., A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007 Feb 28;27(9):2163-75
J:131715 Beurg M, et al., Calcium- and otoferlin-dependent exocytosis by immature outer hair cells. J Neurosci. 2008 Feb 20;28(8):1798-803