ENSG00000213638


Homo sapiens

Features
Gene ID: ENSG00000213638
  
Biological name :ADAT3
  
Synonyms : ADAT3 / adenosine deaminase, tRNA specific 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 1905378
Gene end: 1913447
  
Corresponding Affymetrix probe sets: 1553967_at (Human Genome U133 Plus 2.0 Array)   1553968_a_at (Human Genome U133 Plus 2.0 Array)   230634_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000332448
Ensembl peptide - ENSP00000404502
NCBI entrez gene - 113179     See in Manteia.
OMIM - 615302
RefSeq - NM_138422
RefSeq Peptide - NP_612431
swissprot - D6W601
swissprot - C9JFC1
Ensembl - ENSG00000213638
  
Related genetic diseases (OMIM): 615286 - Mental retardation, autosomal recessive 36, 615286
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
 adat3ENSDARG00000005640Danio rerio
 Adat3ENSMUSG00000113640Mus musculus
 Adat3ENSMUSG00000035370Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002125  Cytidine and deoxycytidylate deaminase domain
 IPR016193  Cytidine deaminase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 molecular_functionGO:0003824 catalytic 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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000565 Esotropia 
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 HP:0001249 Mental retardation 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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