Atlas of Genetics and Cytogenetics in Oncology and Haematology

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LAMTOR2 (late endosomal/lysosomal adaptor, MAPK and MTOR activator 2)

Identity

Alias_namesROBLD3
roadblock domain containing 3
Alias_symbol (synonym)MAPBPIP
MAPKSP1AP
p14
ENDAP
Ragulator2
Other aliasHSPC003
HGNC (Hugo) LAMTOR2
LocusID (NCBI) 28956
Atlas_Id 49903
Location 1q22  [Link to chromosome band 1q22]
Location_base_pair Starts at 156054726 and ends at 156058510 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CSNK1A1 (5q32) / LAMTOR2 (1q22)GALNT14 (2p23.1) / LAMTOR2 (1q22)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)LAMTOR2   29796
LRG (Locus Reference Genomic)LRG_81
Cards
Entrez_Gene (NCBI)LAMTOR2  28956  late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
AliasesENDAP; HSPC003; MAPBPIP; MAPKSP1AP; 
ROBLD3; Ragulator2; p14
GeneCards (Weizmann)LAMTOR2
Ensembl hg19 (Hinxton)ENSG00000116586 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116586 [Gene_View]  ENSG00000116586 [Sequence]  chr1:156054726-156058510 [Contig_View]  LAMTOR2 [Vega]
ICGC DataPortalENSG00000116586
TCGA cBioPortalLAMTOR2
AceView (NCBI)LAMTOR2
Genatlas (Paris)LAMTOR2
WikiGenes28956
SOURCE (Princeton)LAMTOR2
Genetics Home Reference (NIH)LAMTOR2
Genomic and cartography
GoldenPath hg38 (UCSC)LAMTOR2  -     chr1:156054726-156058510 +  1q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LAMTOR2  -     1q22   [Description]    (hg19-Feb_2009)
GoldenPathLAMTOR2 - 1q22 [CytoView hg19]  LAMTOR2 - 1q22 [CytoView hg38]
ImmunoBaseENSG00000116586
Mapping of homologs : NCBILAMTOR2 [Mapview hg19]  LAMTOR2 [Mapview hg38]
OMIM610389   610798   
Gene and transcription
Genbank (Entrez)AF070659 AK307086 BC024190 BM353842 BU184679
RefSeq transcript (Entrez)NM_001145264 NM_014017
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LAMTOR2
Cluster EST : UnigeneHs.632483 [ NCBI ]
CGAP (NCI)Hs.632483
Alternative Splicing GalleryENSG00000116586
Gene ExpressionLAMTOR2 [ NCBI-GEO ]   LAMTOR2 [ EBI - ARRAY_EXPRESS ]   LAMTOR2 [ SEEK ]   LAMTOR2 [ MEM ]
Gene Expression Viewer (FireBrowse)LAMTOR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)28956
GTEX Portal (Tissue expression)LAMTOR2
Human Protein AtlasENSG00000116586-LAMTOR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2Q5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2Q5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2Q5
Splice isoforms : SwissVarQ9Y2Q5
PhosPhoSitePlusQ9Y2Q5
Domains : Interpro (EBI)LAMTOR2-like    Roadblock/LAMTOR2_dom   
Domain families : Pfam (Sanger)Robl_LC7 (PF03259)   
Domain families : Pfam (NCBI)pfam03259   
Domain families : Smart (EMBL)Robl_LC7 (SM00960)  
Conserved Domain (NCBI)LAMTOR2
DMDM Disease mutations28956
Blocks (Seattle)LAMTOR2
PDB (RSDB)5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
PDB Europe5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
PDB (PDBSum)5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
PDB (IMB)5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
Structural Biology KnowledgeBase5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
SCOP (Structural Classification of Proteins)5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
CATH (Classification of proteins structures)5X6U    5X6V    5Y39    5Y3A    6B9X    6EHP    6EHR   
SuperfamilyQ9Y2Q5
Human Protein Atlas [tissue]ENSG00000116586-LAMTOR2 [tissue]
Peptide AtlasQ9Y2Q5
HPRD17463
IPIIPI00032409   IPI00477441   IPI00477454   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2Q5
IntAct (EBI)Q9Y2Q5
FunCoupENSG00000116586
BioGRIDLAMTOR2
STRING (EMBL)LAMTOR2
ZODIACLAMTOR2
Ontologies - Pathways
QuickGOQ9Y2Q5
Ontology : AmiGOMAPK cascade  activation of MAPKK activity  regulation of cell growth  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  lysosomal membrane  lysosomal membrane  late endosome  plasma membrane  cell cycle arrest  endosome membrane  regulation of macroautophagy  positive regulation of TOR signaling  positive regulation of TOR signaling  cellular protein localization  specific granule membrane  neutrophil degranulation  molecular adaptor activity  tertiary granule membrane  cellular response to amino acid stimulus  cellular response to amino acid stimulus  Ragulator complex  Ragulator complex  
Ontology : EGO-EBIMAPK cascade  activation of MAPKK activity  regulation of cell growth  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  lysosomal membrane  lysosomal membrane  late endosome  plasma membrane  cell cycle arrest  endosome membrane  regulation of macroautophagy  positive regulation of TOR signaling  positive regulation of TOR signaling  cellular protein localization  specific granule membrane  neutrophil degranulation  molecular adaptor activity  tertiary granule membrane  cellular response to amino acid stimulus  cellular response to amino acid stimulus  Ragulator complex  Ragulator complex  
NDEx NetworkLAMTOR2
Atlas of Cancer Signalling NetworkLAMTOR2
Wikipedia pathwaysLAMTOR2
Orthology - Evolution
OrthoDB28956
GeneTree (enSembl)ENSG00000116586
Phylogenetic Trees/Animal Genes : TreeFamLAMTOR2
HOGENOMQ9Y2Q5
Homologs : HomoloGeneLAMTOR2
Homology/Alignments : Family Browser (UCSC)LAMTOR2
Gene fusions - Rearrangements
Fusion : QuiverLAMTOR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLAMTOR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LAMTOR2
dbVarLAMTOR2
ClinVarLAMTOR2
1000_GenomesLAMTOR2 
Exome Variant ServerLAMTOR2
ExAC (Exome Aggregation Consortium)ENSG00000116586
GNOMAD BrowserENSG00000116586
Varsome BrowserLAMTOR2
Genetic variants : HAPMAP28956
Genomic Variants (DGV)LAMTOR2 [DGVbeta]
DECIPHERLAMTOR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLAMTOR2 
Mutations
ICGC Data PortalLAMTOR2 
TCGA Data PortalLAMTOR2 
Broad Tumor PortalLAMTOR2
OASIS PortalLAMTOR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLAMTOR2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DLAMTOR2
Mutations and Diseases : HGMDLAMTOR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch LAMTOR2
DgiDB (Drug Gene Interaction Database)LAMTOR2
DoCM (Curated mutations)LAMTOR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LAMTOR2 (select a term)
intoGenLAMTOR2
Cancer3DLAMTOR2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610389    610798   
Orphanet11925   
DisGeNETLAMTOR2
MedgenLAMTOR2
Genetic Testing Registry LAMTOR2
NextProtQ9Y2Q5 [Medical]
TSGene28956
GENETestsLAMTOR2
Target ValidationLAMTOR2
Huge Navigator LAMTOR2 [HugePedia]
snp3D : Map Gene to Disease28956
BioCentury BCIQLAMTOR2
ClinGenLAMTOR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD28956
Chemical/Pharm GKB GenePA164725527
Clinical trialLAMTOR2
Miscellaneous
canSAR (ICR)LAMTOR2 (select the gene name)
DataMed IndexLAMTOR2
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLAMTOR2
EVEXLAMTOR2
GoPubMedLAMTOR2
iHOPLAMTOR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:50:16 CET 2019
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