ENSG00000114388


Homo sapiens
regulationNPRL2activityproteinnitrogencellularresponsestarvationkinasegtpasemembranepermeaseregulatorphosphorylationautophagytorsignalingaminoacidautophagosomeassemblylysosomelysosomalgatorcomplexactivatorbindingautosomaldominantinheritanceincomplete

Features
Gene ID: ENSG00000114388
  
Biological name :NPRL2
  
Synonyms : NPR2 like, GATOR1 complex subunit / NPRL2 / Q8WTW4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p21.31
Gene start: 50347330
Gene end: 50351091
  
Corresponding Affymetrix probe sets: 203246_s_at (Human Genome U133 Plus 2.0 Array)   210373_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000415045
Ensembl peptide - ENSP00000396172
Ensembl peptide - ENSP00000412779
Ensembl peptide - ENSP00000232501
Ensembl peptide - ENSP00000388019
Ensembl peptide - ENSP00000388358
Ensembl peptide - ENSP00000389429
NCBI entrez gene - 10641     See in Manteia.
OMIM - 607072
RefSeq - XM_017005556
RefSeq - NM_006545
RefSeq - XM_005264808
RefSeq - XM_011533288
RefSeq - XM_017005555
RefSeq Peptide - NP_006536
swissprot - F2Z3D4
swissprot - F2Z2R8
swissprot - Q8WTW4
Ensembl - ENSG00000114388
  
Related genetic diseases (OMIM): 617116 - Epilepsy, familial focal, with variable foci 2, 617116
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
 nprl2ENSDARG00000059613Danio rerio
 NPRL2ENSGALG00000002131Gallus gallus
 Nprl2ENSMUSG00000010057Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR009348  Nitrogen permease regulator 2


Gene Ontology (GO)
nitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen compound metabolic processcellular metabolic processprimary metabolic processorganic substance metabolic processresponse to stresscell communicationresponse to external stimuluscellular response to stimuluscatabolic processprocess utilizing autophagic mechanismregulation of molecular functioncellular component organizationcellular component biogenesisnitrogen cnitrogen compound metabolic processcellular mcellular metabolic processprimary meprimary metabolic processorganic suorganic substance metabolic processresponse tresponse to stresscell commucell communicationresponse tresponse to external stimuluscellular rcellular response to stimuluscatabolic catabolic processprocess utprocess utilizing autophagic mechanismregulationregulation of molecular functioncellular ccellular component organizationcellular ccellular component biogenesis
catalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a proteintransferase activityenzyme regulator activityprotein bindingcatalytic activity, acting on a procatalytic activity, acting on a proteintransferase activitytransferase activityenzyme regulator activityenzyme regulator activityprotein bindingprotein binding
cellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellorganellemembraneprotein-containing complexcellcellorganelleorganellemembranemembraneprotein-containing complexprotein-containing complex
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006995 cellular response to nitrogen starvation IBA
 biological_processGO:0010508 positive regulation of autophagy IBA
 biological_processGO:0032007 negative regulation of TOR signaling IMP
 biological_processGO:0033673 negative regulation of kinase activity IDA
 biological_processGO:0034198 cellular response to amino acid starvation IMP
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:2000785 regulation of autophagosome assembly IBA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:1990130 GATOR1 complex IDA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0005096 GTPase activator activity IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
Phenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variabilityPhenotypic variability
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0003829 Incomplete penetrance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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