OTOF

Gene Name		otoferlin
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Endoplasmic Reticulum Membrane Cytosol Integral Component Of Membrane Basolateral Plasma Membrane Cell Junction Synaptic Vesicle Membrane
	Molecular Function	Molecular_function Calcium Ion Binding AP-2 Adaptor Complex Binding
	Biological Process	Sensory Perception Of Sound Synaptic Vesicle Exocytosis Membrane Fusion
Pathways
Drugs
Diseases
GWAS		Metabolite levels (HVA) ( 23319000) Metabolite levels (HVA/MHPG ratio) ( 23319000) Periodontal microbiota ( 22699663)
Protein-protein Interactions		1 interactors: STK39
Entrez ID		9381
HPRD ID		04727
Ensembl ID		ENSG00000115155
Uniprot IDs		Q9HC10
PDB IDs
Enriched GO Terms of Interacting Partners?		Negative Regulation Of Rubidium Ion Transport Negative Regulation Of Rubidium Ion Transmembrane Transporter Activity Regulation Of Rubidium Ion Transport Negative Regulation Of Potassium Ion Transmembrane Transporter Activity Negative Regulation Of Potassium Ion Transmembrane Transport Cellular Hypotonic Response Hypotonic Response Negative Regulation Of Potassium Ion Transport Regulation Of Potassium Ion Transmembrane Transporter Activity Positive Regulation Of Potassium Ion Transport Cellular Response To Osmotic Stress Regulation Of Potassium Ion Transmembrane Transport Negative Regulation Of Transporter Activity Peptidyl-threonine Phosphorylation Negative Regulation Of Ion Transmembrane Transport Negative Regulation Of Transmembrane Transport Regulation Of Potassium Ion Transport Response To Osmotic Stress Negative Regulation Of Ion Transport Peptidyl-serine Phosphorylation Regulation Of Ion Transmembrane Transporter Activity Regulation Of Transmembrane Transporter Activity Positive Regulation Of Ion Transport Regulation Of Inflammatory Response Signal Transduction By Phosphorylation Negative Regulation Of Transport Regulation Of Ion Transmembrane Transport Regulation Of Ion Transport
Tagcloud ?		2p 2p23 accomplished adds advent array boy del deletion deletions description dfnb9 duplication dysmorphic encompassed generalized haploinsufficiency hypotonia interstitial karyotyping micro microcephaly neuropathy nonsyndromic overgrowth p24 rarely seem snp