Gene

otofa

ID

ZDB-GENE-030131-7778

Name

otoferlin a

Symbol

otofa Nomenclature History

Previous Names

otof
fj34b10
si:dkey-181f18.3
wu:fj34b10

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to have AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in several processes, including response to auditory stimulus; sensory perception of sound; and startle response. Predicted to localize to presynaptic active zone membrane and synaptic vesicle membrane. Is expressed in nervous system; otic vesicle; and trigeminal placode. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

15 figures from 8 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7162231 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Chatterjee et al., 2015
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With otofa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 9	Alliance	Auditory neuropathy, autosomal recessive, 1	601071
autosomal recessive nonsyndromic deafness 9	Alliance	Deafness, autosomal recessive 9	601071

Associated With otofa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000008	C2 domain
Domain	IPR012561	Ferlin B-domain
Domain	IPR012968	FerIin domain
Domain	IPR032362	Ferlin, C-terminal domain
Domain	IPR037720	Ferlin, second C2 domain
Domain	IPR037722	Ferlin, third C2 domain
Domain	IPR037723	Ferlin, fourth C2 domain
Domain	IPR037724	Ferlin, fifth C2 domain
Domain	IPR037725	Ferlin, sixth C2 domain
Domain	IPR037726	Ferlin, first C2 domain
Family	IPR037721	Ferlin family
Homologous_superfamily	IPR035892	C2 domain superfamily

Domain Details Per Protein

Protein	Length	C2 domain	C2 domain superfamily	FerIin domain	Ferlin B-domain	Ferlin, C-terminal domain	Ferlin family	Ferlin, fifth C2 domain	Ferlin, first C2 domain	Ferlin, fourth C2 domain	Ferlin, second C2 domain	Ferlin, sixth C2 domain	Ferlin, third C2 domain
UniProtKB:A0A8M3AT93 InterPro	2046
UniProtKB:A0A8M3B468 InterPro	1994
UniProtKB:X1WB77 InterPro	1992
UniProtKB:A0A8M3AT99 InterPro	2022
UniProtKB:A0A8M9PPD5 InterPro	2036
UniProtKB:A0A8M3AWA4 InterPro	2036
UniProtKB:A0A8M9PBS5 InterPro	2020
UniProtKB:A0A8M9P2M0 InterPro	2008
UniProtKB:Q5SPC5 InterPro	1992
UniProtKB:A0A8M3ALK6 InterPro	2044
UniProtKB:A0A8M3AKW9 InterPro	2018
UniProtKB:A0A8M3B462 InterPro	2044
UniProtKB:A0A8M3AKW3 InterPro	2046

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	otofa-201 (1) Ensembl	Ensembl	5979 nt	Select Tool ZFIN BLAST
mRNA	otofa-202 (1) Ensembl	Havana	6894 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	otofa-203 (1) Ensembl	Havana	437 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	otofa-204 (1) Ensembl	Havana	694 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-otof	monoclonal	otofa otofb	IgG2a	Mouse	IHC	Developmental Studies Hybridoma Bank	40

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations