Details for Gene OTOF

GENE NAME OTOF
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000115155
UNIPROT ACCESSION NUMBER Q9HC10
GO MOLECULAR FUNCTION ['molecular_function', 'AP-2 adaptor complex binding', 'calcium ion binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-9609507; R-HSA-9609523
1 combination linked to OTOF OLI1318
1 variant linked to OTOF OTOF:c.5098G>C, p.Glu1700Gln
1 disease linked to OTOF Rare genetic deafness

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