ENSG00000115155


Homo sapiens

Features
Gene ID: ENSG00000115155
  
Biological name :OTOF
  
Synonyms : OTOF / otoferlin / Q9HC10
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p23.3
Gene start: 26457203
Gene end: 26558698
  
Corresponding Affymetrix probe sets: 1555251_a_at (Human Genome U133 Plus 2.0 Array)   220492_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494578
Ensembl peptide - ENSP00000385255
Ensembl peptide - ENSP00000389917
Ensembl peptide - ENSP00000272371
Ensembl peptide - ENSP00000344521
Ensembl peptide - ENSP00000345137
Ensembl peptide - ENSP00000383906
NCBI entrez gene - 9381     See in Manteia.
OMIM - 603681
RefSeq - XM_017005338
RefSeq - NM_001287489
RefSeq - NM_004802
RefSeq - NM_194248
RefSeq - NM_194322
RefSeq - NM_194323
RefSeq Peptide - NP_001274418
RefSeq Peptide - NP_004793
RefSeq Peptide - NP_919224
RefSeq Peptide - NP_919303
RefSeq Peptide - NP_919304
swissprot - Q9HC10
swissprot - H7BZJ5
Ensembl - ENSG00000115155
  
Related genetic diseases (OMIM): 601071 - Auditory neuropathy, autosomal recessive, 1, 601071
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 otofaENSDARG00000030832Danio rerio
 otofbENSDARG00000020581Danio rerio
 OTOFENSGALG00000016577Gallus gallus
 OtofENSMUSG00000062372Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FER1L6 / Q2WGJ9 / fer-1 like family member 6ENSG0000021481446
DYSF / O75923 / dysferlinENSG0000013563634
MYOF / Q9NZM1 / myoferlinENSG0000013811932
A0AVI2 / FER1L5 / fer-1 like family member 5ENSG0000024971527


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:0007605 sensory perception of sound TAS
 biological_processGO:0016079 synaptic vesicle exocytosis IEA
 biological_processGO:0061025 membrane fusion TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030672 synaptic vesicle membrane ISS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005509 calcium ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0004463 absent brainstem auditory responses 
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 HP:0008529 Absent middle ear reflexes 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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