ENSG00000155719


Homo sapiens

Features
Gene ID: ENSG00000155719
  
Biological name :OTOA
  
Synonyms : OTOA / otoancorin / Q7RTW8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p12.2
Gene start: 21663971
Gene end: 21761935
  
Corresponding Affymetrix probe sets: 1553432_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496564
Ensembl peptide - ENSP00000286149
Ensembl peptide - ENSP00000373608
Ensembl peptide - ENSP00000373610
Ensembl peptide - ENSP00000495594
Ensembl peptide - ENSP00000373609
NCBI entrez gene - 146183     See in Manteia.
OMIM - 607038
RefSeq - XM_017022951
RefSeq - NM_001161683
RefSeq - NM_144672
RefSeq - NM_170664
RefSeq - XM_011545747
RefSeq - XM_011545748
RefSeq - XM_017022950
RefSeq Peptide - NP_001155155
RefSeq Peptide - NP_653273
RefSeq Peptide - NP_733764
swissprot - Q7RTW8
Ensembl - ENSG00000155719
  
Related genetic diseases (OMIM): 607039 - Deafness, autosomal recessive 22, 607039
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
 OTOAENSGALG00000007070Gallus gallus
 OtoaENSMUSG00000034990Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
STRC / Q7RTU9 / stereocilinENSG0000024286618


Protein motifs (from Interpro)
Interpro ID Name
 IPR026663  Otoancorin
 IPR026664  Stereocilin-related


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006501 C-terminal protein lipidation TAS
 biological_processGO:0007160 cell-matrix adhesion IBA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0019226 transmission of nerve impulse IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031225 anchored component of membrane IEA


Pathways (from Reactome)
Pathway description
Post-translational modification: synthesis of GPI-anchored proteins


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






 

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