ENSG00000284844


Homo sapiens

Features
Gene ID: ENSG00000284844
  
Biological name :AP000812.4
  
Synonyms : AP000812.4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.4
Gene start: 72105924
Gene end: 72109329
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000494667
NCBI entrez gene - 220074     See in Manteia.
OMIM - 612414
RefSeq - XM_017017356
RefSeq - XM_017017357
RefSeq - XM_017017358
Ensembl - ENSG00000284844
  
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
 tomtENSDARG00000115463Danio rerio
 ENSGALG00000035375Gallus gallus
 TomtENSMUSG00000078630Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRTOMT / Q8WZ04 / Q96E66 / leucine rich transmembrane and O-methyltransferase domain containingENSG00000184154100
COMT / P21964 / catechol-O-methyltransferaseENSG0000009301034


Protein motifs (from Interpro)
Interpro ID Name
 IPR002935  O-methyltransferase, family 3
 IPR029063  S-adenosyl-L-methionine-dependent methyltransferase
 IPR033025  Transmembrane O-methyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 molecular_functionGO:0008171 O-methyltransferase activity IEA
 molecular_functionGO:0016206 catechol O-methyltransferase 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:0003577 Onset at birth 
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 HP:0008527 Congenital sensorineural 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