ENSMUSG00000062372


Mus musculus

Features
Gene ID: ENSMUSG00000062372
  
Biological name :Otof
  
Synonyms : Otof / otoferlin isoform 3
  
Possible biological names infered from orthology : otoferlin / Q9HC10
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: B1
Gene start: 30367062
Gene end: 30461932
  
Corresponding Affymetrix probe sets: 10528972 (MoGene1.0st)   1420419_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000110395
Ensembl peptide - ENSMUSP00000073803
NCBI entrez gene - 83762     See in Manteia.
MGI - MGI:1891247
RefSeq - XM_017321186
RefSeq - NM_031875
RefSeq - XM_006504206
RefSeq - XM_006504208
RefSeq - XM_006504209
RefSeq - XM_011240802
RefSeq - XM_017321185
RefSeq - NM_001100395
RefSeq - NM_001286421
RefSeq - NM_001313767
RefSeq Peptide - NP_001273350
RefSeq Peptide - NP_001300696
RefSeq Peptide - NP_114081
RefSeq Peptide - NP_001093865
swissprot - E9PYR6
swissprot - A0A0R4J1K2
Ensembl - ENSMUSG00000062372
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 otofaENSDARG00000030832Danio rerio
 otofbENSDARG00000020581Danio rerio
 OTOFENSGALG00000016577Gallus gallus
 OTOFENSG00000115155Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fer1l6 / fer-1 like family member 6 / Q2WGJ9*ENSMUSG0000003710645
Fer1l4ENSMUSG0000001333839
Dysf / Q9ESD7 / Dysferlin / O75923*ENSMUSG0000003378833
Myof / Q69ZN7 / Myoferlin / Q9NZM1*ENSMUSG0000004861232
Fer1l5 / P0DM40 / Fer-1-like protein 5 / A0AVI2* / fer-1 like family member 5*ENSMUSG0000003743226


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR012561  Ferlin B-domain
 IPR012968  FerIin domain
 IPR029996  Otoferlin
 IPR032362  Ferlin, C-terminal domain
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016079 synaptic vesicle exocytosis IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0005509 calcium ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Myo6twt/Myo6twt
Genetic Background: involves: C57BL/6J

 MP:0001967 deafness "inability to hear" [J:57651]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Otofdeaf5Jcs/Otofdeaf5Jcs
Genetic Background: STOCK Otofdeaf5Jcs/Kjn

 MP:0004393 abnormal cochlear inner hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell s surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0004433 abnormal cochlear inner hair cell physiology "anomalies in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Otoftm1.1Erei/Otoftm1.1Erei
Genetic Background: involves: 129P2/OlaHsd

 MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo6twt/Myo6twt
Genetic Background: involves: C57BL/6J

 MP:0004562 abnormal inner hair cell synaptic ribbon morphology "any structural abnormality in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otoftm1.1Erei/Otoftm1.1Erei
Genetic Background: involves: 129P2/OlaHsd

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Otofdeaf5Jcs/Otofdeaf5Jcs
Genetic Background: STOCK Otofdeaf5Jcs/Kjn

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Six3tm2Gco/Six3tm2.1Gco,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Otofpga/Otofpga
Genetic Background: involves: C57BL/6J

Allelic Composition: Otofdeaf5Jcs/Otofdeaf5Jcs
Genetic Background: STOCK Otofdeaf5Jcs/Kjn

Allelic Composition: Otoftm1.1Erei/Otoftm1.1Erei
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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