gene 1,606 words KG: OTOF
Contents

OTOF (Otoferlin)

🧬 Gene Info
Gene SymbolOTOF
Full NameOtoferlin
Chromosome2p23.3
Functionencodes a large transmembrane protein belonging to the ferlin family that is essential for synaptic vesicle exocytosis at the inner hair cell ribbon synapse of the cochlea.
Primary ExpressionInner ear, brain, pancreas, testis
Molecular Weight600 kDa
Amino Acids380 aa
Exons48
PathwaysExocytosis
UniProt IDQ9NZM4
NCBI Gene ID9381
Ensembl IDENSG00000137860
OMIM603681
GeneCardsOTOF
Human Protein AtlasOTOF
Associated DiseasesAging, Als, Ms
KG Connections7 knowledge graph edges
DatabasesGeneCardsHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Knowledge Graph (7 edges)

SNAP29 associated_with OTOF
GCAT associated_with OTOF
OTOF regulates Als
OTOF associated_with Ms
OTOF activates Exocytosis
OTOF associated_with Als
OTOF associated_with Aging

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