ENSG00000116586


Homo sapiens

Features
Gene ID: ENSG00000116586
  
Biological name :LAMTOR2
  
Synonyms : LAMTOR2 / late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 / Q9Y2Q5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q22
Gene start: 156054752
Gene end: 156058510
  
Corresponding Affymetrix probe sets: 218291_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357285
Ensembl peptide - ENSP00000357287
Ensembl peptide - ENSP00000357288
NCBI entrez gene - 28956     See in Manteia.
OMIM - 610389
RefSeq - NM_001145264
RefSeq - NM_014017
RefSeq Peptide - NP_001138736
RefSeq Peptide - NP_054736
swissprot - Q9Y2Q5
Ensembl - ENSG00000116586
  
Related genetic diseases (OMIM): 610798 - Immunodeficiency due to defect in MAPBP-interacting protein, 610798
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
 lamtor2ENSDARG00000039872Danio rerio
 LAMTOR2ENSGALG00000029881Gallus gallus
 Q9JHS3ENSMUSG00000028062Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR004942  Roadblock/LAMTOR2 domain
 IPR037587  Ragulator complex protein LAMTOR2-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0000186 activation of MAPKK activity IEA
 biological_processGO:0001558 regulation of cell growth IMP
 biological_processGO:0007050 cell cycle arrest TAS
 biological_processGO:0016241 regulation of macroautophagy TAS
 biological_processGO:0032008 positive regulation of TOR signaling IMP
 biological_processGO:0034613 cellular protein localization IMP
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0071230 cellular response to amino acid stimulus IMP
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane TAS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 cellular_componentGO:0071986 Ragulator complex IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0032947 protein-containing complex scaffold activity IDA


Pathways (from Reactome)
Pathway description
Macroautophagy
mTOR signalling
mTORC1-mediated signalling
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
MAP2K and MAPK activation
Neutrophil degranulation
Regulation of PTEN gene transcription


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:0000280 Coarse facial features 
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 HP:0001010 Hypopigmentation of the skin 
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 HP:0001875 Neutropenia 
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 HP:0002721 Immunodeficiency 
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 HP:0002850 Decreased IgM 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005599 Hair hypopigmentation 
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 HP:0006538 Bronchopulmonary infection 
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 HP:0007443 Partial albinism 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100030 MAPK1 / P28482 / mitogen-activated protein kinase 1  / complex / reaction
 ENSG00000109270 Q9UHA4 / LAMTOR3 / late endosomal/lysosomal adaptor, MAPK and MTOR activator 3  / complex
 ENSG00000132155 RAF1 / P04049 / Raf-1 proto-oncogene, serine/threonine kinase  / reaction / complex
 ENSG00000126934 MAP2K2 / P36507 / mitogen-activated protein kinase kinase 2  / complex / reaction
 ENSG00000102882 MAPK3 / P27361 / mitogen-activated protein kinase 3  / reaction / complex
 ENSG00000169032 MAP2K1 / Q02750 / mitogen-activated protein kinase kinase 1  / reaction / complex
 ENSG00000157764 BRAF / P15056 / B-Raf proto-oncogene, serine/threonine kinase  / reaction / complex
 ENSG00000123154 WDR83 / Q9BRX9 / WD repeat domain 83  / complex






 

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