Otof
Gene Detail

Symbol Name ID

Otof otoferlin MGI:1891247

Feature Type

protein coding gene

Genetic Map

Chromosome 5

16.48 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr5:30370076-30461932 bp, - strand From VEGA annotation of GRCm38   91857 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:12892  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Otof

Human homologs

Human Homolog		OTOF, otoferlin
NCBI Gene ID		9381
neXtProt AC		NX_Q9HC10
Human Synonyms		AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
Human Chr (Location)		2p23.1; chr2:26680071-26781566 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human OTOF

Alleles and phenotypes

All alleles(8) : Targeted(6) Chemically induced(2)
 

Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.

 
Human Diseases Modeled Using Mouse Otof (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	sensory perception of sound, synaptic vesicle exocytosis
Component	cell junction, cytoplasmic vesicle, ...
Function	calcium ion binding, protein binding

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (15)    Tissues (2)    Images (15)
Theiler Stages: 23

Assay Type	Results
RNA in situ	15

cDNA source data(7)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(8) cDNA(8)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000025902 (Evidence)
Ensembl Gene Model	ENSMUSG00000062372 (Evidence)
Entrez Gene	83762 (Evidence)
UniGene	244502
DFCI	TC1578783, TC1595223
DoTS	DT.101716657, DT.101723156, DT.40144886, DT.91338745
NIA Mouse Gene Index	U026045
Consensus CDS Project	CCDS19157.1, CCDS51452.1
International Mouse Knockout Project Status	Otof

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025902	VEGA Gene Model | MGI Sequence Detail	91857	C57BL/6J
transcript	OTTMUST00000063834	VEGA | MGI Sequence Detail	6150	Not Applicable
polypeptide	OTTMUSP00000031633	VEGA | MGI Sequence Detail	1997	Not Applicable

All sequences(45) RefSeq(4) UniProt(4)

Polymorphisms

SNPs(651 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000008	C2 calcium-dependent membrane targeting
InterPro	IPR008973	C2 calcium/lipid-binding domain, CaLB
InterPro	IPR020477	C2 domain
InterPro	IPR018029	C2 membrane targeting protein
InterPro	IPR012968	FerIin domain
InterPro	IPR012561	Ferlin B-domain
Protein Ontology	PR:000012072	otoferlin

References

(Earliest) 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
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(43)