ENSG00000114388


Homo sapiens

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)
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)
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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