Otof - otoferlin Gene

Mus musculus

Gene ID: 83762 | Gene type: protein coding

About Otof

Summary

Enables AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in synaptic vesicle priming. Located in endoplasmic reticulum; presynaptic active zone membrane; and synaptic vesicle membrane. Is expressed in brain; pons mantle layer; and rest of cerebellum ventricular layer. Used to study autosomal recessive nonsyndromic deafness 9. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin). [provided by Alliance of Genome Resources, Apr 2022]

Otof Products(4)

mRNA	Protein	Name
NM_001100395.1	NP_001093865.1	otoferlin isoform 1
NM_001286421.1	NP_001273350.1	otoferlin isoform 3
NM_001313767.1	NP_001300696.1	otoferlin isoform 4
NM_031875.2	NP_114081.2	otoferlin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables AP-2 adaptor complex binding	IDA IDA: Inferred from direct assay	23719817	MGI
enables calcium ion binding	IDA IDA: Inferred from direct assay	17055430	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	17055430	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in synaptic vesicle exocytosis	EXP EXP: Inferred from Experiment	17055430	MGI
involved in synaptic vesicle exocytosis	IDA IDA: Inferred from direct assay	17055430	MGI
acts upstream of or within synaptic vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	25609709	MGI
involved in synaptic vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	17055430	MGI
involved in synaptic vesicle priming	IDA IDA: Inferred from direct assay	25609709	MGI
involved in synaptic vesicle priming	IMP IMP: Inferred from mutant phenotype	20562868	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
is active in cochlear hair cell ribbon synapse	EXP EXP: Inferred from Experiment	17055430	MGI
is active in cochlear hair cell ribbon synapse	IDA IDA: Inferred from direct assay	17055430	MGI
is active in cochlear hair cell ribbon synapse	IMP IMP: Inferred from mutant phenotype	17055430	MGI
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	27458190	MGI
located in presynaptic active zone membrane	IDA IDA: Inferred from direct assay	25609709	MGI
is active in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	17055430	MGI
located in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	17055430	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

otoferlin

fer-1-like protein 2

protein pachanga

Otof Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Otof	Q9ESF1	Ergic2	Mus musculus	Q9CR89	Y2H	22613993

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09861	OTOF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Otof	NCBI	NCBI:9381

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