ENSG00000181585


Homo sapiens

Features
Gene ID: ENSG00000181585
  
Biological name :TMIE
  
Synonyms : Q8NEW7 / TMIE / transmembrane inner ear
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p21.31
Gene start: 46694528
Gene end: 46710886
  
Corresponding Affymetrix probe sets: 1553600_at (Human Genome U133 Plus 2.0 Array)   1553601_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494576
Ensembl peptide - ENSP00000495111
Ensembl peptide - ENSP00000324775
NCBI entrez gene - 259236     See in Manteia.
OMIM - 607237
RefSeq - NM_147196
RefSeq - XM_006713097
RefSeq Peptide - NP_671729
swissprot - Q8NEW7
Ensembl - ENSG00000181585
  
Related genetic diseases (OMIM): 600971 - Deafness, autosomal recessive 6, 600971
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
 tmieENSDARG00000069423Danio rerio
 TMIEENSGALG00000005443Gallus gallus
 TmieENSMUSG00000049555Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR032006  Transmembrane inner ear expressed protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0042472 inner ear morphogenesis IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane 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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contact: otassy@igbmc.fr