ENSG00000188162


Homo sapiens

Features
Gene ID: ENSG00000188162
  
Biological name :OTOG
  
Synonyms : OTOG / otogelin / Q6ZRI0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.1
Gene start: 17547373
Gene end: 17647150
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000399057
Ensembl peptide - ENSP00000382323
Ensembl peptide - ENSP00000382329
NCBI entrez gene - 340990     See in Manteia.
OMIM - 604487
RefSeq - NM_001292063
RefSeq - NM_001277269
RefSeq Peptide - NP_001264198
RefSeq Peptide - NP_001278992
swissprot - Q6ZRI0
swissprot - C9IZ84
swissprot - H9KVB3
Ensembl - ENSG00000188162
  
Related genetic diseases (OMIM): 614945 - Deafness, autosomal recessive 18B, 614945
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
 otogENSDARG00000068460Danio rerio
 OTOGENSGALG00000006208Gallus gallus
 OtogENSMUSG00000009487Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OTOGL / Q3ZCN5 / otogelin likeENSG0000016589932
MUC5AC / P98088 / mucin 5AC, oligomeric mucus/gel-formingENSG0000021518223
VWF / P04275 / von Willebrand factorENSG0000011079922
SSPO / SCO-spondinENSG0000019755821
MUC5B / Q9HC84 / mucin 5B, oligomeric mucus/gel-formingENSG0000011798321
MUC6 / Q6W4X9 / mucin 6, oligomeric mucus/gel-formingENSG0000018495616
FCGBP / Fc fragment of IgG binding proteinENSG0000027539514
ZAN / zonadhesin (gene/pseudogene)ENSG0000014683913
TECTA / O75443 / tectorin alphaENSG0000010992713


Protein motifs (from Interpro)
Interpro ID Name
 IPR000742  EGF-like domain
 IPR001007  VWFC domain
 IPR001846  von Willebrand factor, type D domain
 IPR002919  Trypsin Inhibitor-like, cysteine rich domain
 IPR006207  Cystine knot, C-terminal
 IPR007934  Alpha-L-arabinofuranosidase B, arabinose-binding domain
 IPR014853  Uncharacterised domain, cysteine-rich
 IPR030105  Otogelin
 IPR036084  Serine protease inhibitor-like superfamily
 IPR036195  Alpha-L-arabinofuranosidase B, arabinose-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0046373 L-arabinose metabolic process IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046556 alpha-L-arabinofuranosidase activity 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:0000365 Hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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