ENSG00000112855


Homo sapiens

Features
Gene ID: ENSG00000112855
  
Biological name :HARS2
  
Synonyms : HARS2 / histidyl-tRNA synthetase 2, mitochondrial / P49590
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q31.3
Gene start: 140691426
Gene end: 140699318
  
Corresponding Affymetrix probe sets: 209252_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494296
Ensembl peptide - ENSP00000496011
Ensembl peptide - ENSP00000495350
Ensembl peptide - ENSP00000494965
Ensembl peptide - ENSP00000494742
Ensembl peptide - ENSP00000494569
Ensembl peptide - ENSP00000230771
Ensembl peptide - ENSP00000407105
Ensembl peptide - ENSP00000423530
Ensembl peptide - ENSP00000423616
Ensembl peptide - ENSP00000424516
Ensembl peptide - ENSP00000425695
Ensembl peptide - ENSP00000429220
Ensembl peptide - ENSP00000493571
Ensembl peptide - ENSP00000493630
Ensembl peptide - ENSP00000494140
NCBI entrez gene - 23438     See in Manteia.
OMIM - 600783
RefSeq - XM_011537620
RefSeq - XM_017009287
RefSeq - XM_017009290
RefSeq - NM_001278731
RefSeq - NM_001278732
RefSeq - NM_012208
RefSeq - XM_017009292
RefSeq - XM_017009291
RefSeq - XM_017009289
RefSeq - XM_011537619
RefSeq - XM_017009288
RefSeq Peptide - NP_036340
RefSeq Peptide - NP_001265660
RefSeq Peptide - NP_001265661
swissprot - P49590
swissprot - D6RJE6
swissprot - B4DQ67
swissprot - D6R9M5
swissprot - D6RB22
Ensembl - ENSG00000112855
  
Related genetic diseases (OMIM): 614926 - ?Perrault syndrome 2, 614926
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
 harsENSDARG00000003693Danio rerio
 ENSGALG00000029346Gallus gallus
 HARSENSGALG00000035080Gallus gallus
 Hars2ENSMUSG00000019143Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HARS / P12081 / histidyl-tRNA synthetaseENSG0000017044572


Protein motifs (from Interpro)
Interpro ID Name
 IPR004154  Anticodon-binding
 IPR004516  Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit
 IPR006195  Aminoacyl-tRNA synthetase, class II
 IPR015807  Histidine-tRNA ligase
 IPR033656  Histidyl-anticodon-binding
 IPR036621  Anticodon-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006412 translation NAS
 biological_processGO:0006418 tRNA aminoacylation for protein translation TAS
 biological_processGO:0006427 histidyl-tRNA aminoacylation IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0004812 aminoacyl-tRNA ligase activity IEA
 molecular_functionGO:0004821 histidine-tRNA ligase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
Mitochondrial tRNA aminoacylation


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:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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