ENSG00000165899
Homo sapiens | |
Features
| Gene ID: | ENSG00000165899 | | | | | Biological name : | OTOGL | | | | | Synonyms : | otogelin like / OTOGL / Q3ZCN5 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | q21.31 | | Gene start: | 80099537 | | Gene end: | 80380879 | | | | | Corresponding Affymetrix probe sets: | 1553746_a_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000493572
Ensembl peptide - ENSP00000449641
Ensembl peptide - ENSP00000496036
Ensembl peptide - ENSP00000298820
Ensembl peptide - ENSP00000400895
Ensembl peptide - ENSP00000447211
Ensembl peptide - ENSP00000449296
NCBI entrez gene - 283310
See in Manteia.
OMIM - 614925
RefSeq - XM_011538193
RefSeq - NM_173591
RefSeq - XM_005268802
RefSeq - XM_011538191
RefSeq - XM_011538192
RefSeq Peptide - NP_775862
swissprot - Q3ZCN5
swissprot - H0YIF7
swissprot - H0YIL4
swissprot - H7BXL6
swissprot - A0A0A0MSS2
Ensembl - ENSG00000165899
| | | | | Related genetic diseases (OMIM): | 614944 - Deafness, autosomal recessive 84B, 614944 |
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)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| 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 | | IPR030110 | Otogelin-like protein | | IPR036084 | Serine protease inhibitor-like superfamily | | IPR036195 | Alpha-L-arabinofuranosidase B, arabinose-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| 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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| | HP:0001756 | Vestibular hypofunction | |
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Interacting proteins (from Reactome)
No match
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