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Aliases for LAMTOR2 Gene

Aliases for LAMTOR2 Gene

  • Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2 2 3 5
  • Late Endosomal/Lysosomal Adaptor And MAPK And MTOR Activator 2 3 4
  • Late Endosomal/Lysosomal Mp1-Interacting Protein 3 4
  • Roadblock Domain-Containing Protein 3 3 4
  • Roadblock Domain Containing 3 2 3
  • Endosomal Adaptor Protein P14 3 4
  • MAPBP-Interacting Protein 3 4
  • MAPKSP1 Adaptor Protein 2 3
  • MAPBPIP 3 4
  • ROBLD3 3 4
  • Mitogen-Activated Protein-Binding Protein-Interacting Protein (MAPBPIP) 3
  • Mitogen Activated Protein Binding Protein Interacting Protein 2
  • Mitogen-Activated Protein-Binding Protein-Interacting Protein 4
  • Ragulator Complex Protein LAMTOR2 3
  • Endosomal Adaptor Protein 2
  • Ragulator2 3
  • MAPKSP1AP 3
  • HSPC003 3
  • ENDAP 3
  • P14 3

External Ids for LAMTOR2 Gene

Previous HGNC Symbols for LAMTOR2 Gene

  • ROBLD3

Previous GeneCards Identifiers for LAMTOR2 Gene

  • GC01P156025

Summaries for LAMTOR2 Gene

Entrez Gene Summary for LAMTOR2 Gene

  • The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

GeneCards Summary for LAMTOR2 Gene

LAMTOR2 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2) is a Protein Coding gene. Diseases associated with LAMTOR2 include Immunodeficiency Due To Defect In Mapbp-Interacting Protein and T Cell Deficiency. Among its related pathways are RET signaling and Immune System. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and protein complex scaffold.

UniProtKB/Swiss-Prot for LAMTOR2 Gene

  • As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMTOR2 Gene

Genomics for LAMTOR2 Gene

Regulatory Elements for LAMTOR2 Gene

Enhancers for LAMTOR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F156099 2 VISTA FANTOM5 ENCODE 11.4 +49.4 49440 8.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS LMNA MEX3A LAMTOR2 UBQLN4 KIAA0907 RXFP4 FAM189B RIT1 YY1AP1 MEF2D
GH01F155937 1.8 FANTOM5 Ensembl ENCODE 11.2 -111.5 -111507 10.9 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 LOC101928120 RIT1 KIAA0907 ASH1L ARHGEF2 LOC107985210 SNORA80E UBQLN4 LAMTOR2 MSTO2P
GH01F155965 1.6 FANTOM5 ENCODE 11.2 -79.4 -79350 19.0 CREB3L1 MLX ZFP64 FEZF1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 RIT1 ARHGEF2 PAQR6 KIAA0907 ASH1L RXFP4 SCARNA4 LAMTOR2 UBQLN4 SYT11
GH01F156111 1.6 FANTOM5 ENCODE 11.2 +66.7 66664 19.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 KIAA0907 MSTO2P ENSG00000271267 RRNAD1 LMNA ASH1L LOC246784 PEAR1 MEX3A DPM3
GH01F156281 1.5 FANTOM5 ENCODE 10.6 +228.5 228532 4.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 GLMP SMG5 KIAA0907 PEAR1 SLC25A44 PAQR6 BGLAP ENSG00000252236 SEMA4A TSACC
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAMTOR2 on UCSC Golden Path with GeneCards custom track

Promoters for LAMTOR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000545664 -326 3601 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for LAMTOR2 Gene

Chromosome:
1
Start:
156,054,726 bp from pter
End:
156,058,510 bp from pter
Size:
3,785 bases
Orientation:
Plus strand

Genomic View for LAMTOR2 Gene

Genes around LAMTOR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMTOR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMTOR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMTOR2 Gene

Proteins for LAMTOR2 Gene

  • Protein details for LAMTOR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Q5-LTOR2_HUMAN
    Recommended name:
    Ragulator complex protein LAMTOR2
    Protein Accession:
    Q9Y2Q5
    Secondary Accessions:
    • Q5VY97
    • Q5VY98
    • Q5VY99

    Protein attributes for LAMTOR2 Gene

    Size:
    125 amino acids
    Molecular mass:
    13508 Da
    Quaternary structure:
    • Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer (PubMed:20381137, PubMed:22980980). The Ragulator complex interacts with both the mTORC1 complex and heterodimers constituted of the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; regulated by amino acid availability (PubMed:20381137, PubMed:22980980). The Ragulator complex interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906). Interacts with LAMTOR1 and LAMTOR3; the interaction is direct. Interacts with MAPK1 and MAP2K1 (By similarity).

    Alternative splice isoforms for LAMTOR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMTOR2 Gene

Post-translational modifications for LAMTOR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LAMTOR2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LAMTOR2 (LAMTOR2)
  • Abcam antibodies for LAMTOR2
  • Santa Cruz Biotechnology (SCBT) Antibodies for LAMTOR2

No data available for DME Specific Peptides for LAMTOR2 Gene

Domains & Families for LAMTOR2 Gene

Gene Families for LAMTOR2 Gene

Protein Domains for LAMTOR2 Gene

Suggested Antigen Peptide Sequences for LAMTOR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2Q5

UniProtKB/Swiss-Prot:

LTOR2_HUMAN :
  • Belongs to the GAMAD family.
Family:
  • Belongs to the GAMAD family.
genes like me logo Genes that share domains with LAMTOR2: view

Function for LAMTOR2 Gene

Molecular function for LAMTOR2 Gene

UniProtKB/Swiss-Prot Function:
As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.

Gene Ontology (GO) - Molecular Function for LAMTOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IDA 22980980
GO:0005515 protein binding IPI 20381137
GO:0032947 contributes_to protein complex scaffold IDA 22980980
genes like me logo Genes that share ontologies with LAMTOR2: view
genes like me logo Genes that share phenotypes with LAMTOR2: view

Human Phenotype Ontology for LAMTOR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMTOR2 Gene

MGI Knock Outs for LAMTOR2:

Animal Model Products

miRNA for LAMTOR2 Gene

miRTarBase miRNAs that target LAMTOR2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMTOR2 Gene

Localization for LAMTOR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMTOR2 Gene

Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMTOR2 gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
plasma membrane 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LAMTOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005770 late endosome ISS --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with LAMTOR2: view

Pathways & Interactions for LAMTOR2 Gene

SuperPathways for LAMTOR2 Gene

SuperPathway Contained pathways
1 RET signaling
2 mTOR signalling
3 MAPK-Erk Pathway
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with LAMTOR2: view

Pathways by source for LAMTOR2 Gene

2 Sino Biological pathways for LAMTOR2 Gene
1 Cell Signaling Technology pathway for LAMTOR2 Gene
1 KEGG pathway for LAMTOR2 Gene
1 R&D Systems pathway for LAMTOR2 Gene

Gene Ontology (GO) - Biological Process for LAMTOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity IEA --
GO:0007050 cell cycle arrest TAS --
GO:0016049 cell growth IMP 20381137
GO:0016236 macroautophagy TAS --
genes like me logo Genes that share ontologies with LAMTOR2: view

No data available for SIGNOR curated interactions for LAMTOR2 Gene

Transcripts for LAMTOR2 Gene

Unigene Clusters for LAMTOR2 Gene

Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMTOR2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c
SP1: - -
SP2: -
SP3: - - - -
SP4:

Relevant External Links for LAMTOR2 Gene

GeneLoc Exon Structure for
LAMTOR2
ECgene alternative splicing isoforms for
LAMTOR2

Expression for LAMTOR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMTOR2 Gene

Protein differential expression in normal tissues from HIPED for LAMTOR2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.5) and Liver (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAMTOR2 Gene



Protein tissue co-expression partners for LAMTOR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of LAMTOR2 Gene:

LAMTOR2

SOURCE GeneReport for Unigene cluster for LAMTOR2 Gene:

Hs.632483
genes like me logo Genes that share expression patterns with LAMTOR2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LAMTOR2 Gene

Orthologs for LAMTOR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMTOR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMTOR2 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMTOR2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMTOR2 34 35
  • 92 (n)
mouse
(Mus musculus)
Mammalia Lamtor2 34 16 35
  • 91.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR2 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamtor2 34
  • 90.93 (n)
dog
(Canis familiaris)
Mammalia LAMTOR2 34 35
  • 90.67 (n)
chicken
(Gallus gallus)
Aves LAMTOR2 35
  • 94 (a)
OneToOne
LOC100859842 34
  • 83.5 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia lamtor2 34
  • 79.47 (n)
Str.3502 34
African clawed frog
(Xenopus laevis)
Amphibia cg5189-prov 34
zebrafish
(Danio rerio)
Actinopterygii lamtor2 34 35
  • 78.67 (n)
Dr.19588 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8440 34
fruit fly
(Drosophila melanogaster)
Insecta CG5189 34 35
  • 66.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007213 34
  • 64.8 (n)
worm
(Caenorhabditis elegans)
Secernentea Y97E10AR.7 35
  • 37 (a)
OneToOne
Species where no ortholog for LAMTOR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMTOR2 Gene

ENSEMBL:
Gene Tree for LAMTOR2 (if available)
TreeFam:
Gene Tree for LAMTOR2 (if available)

Paralogs for LAMTOR2 Gene

No data available for Paralogs for LAMTOR2 Gene

Variants for LAMTOR2 Gene

Sequence variations from dbSNP and Humsavar for LAMTOR2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1046348 -- 156,058,014(+) ACCTT(C/T)TGCTG intron-variant, reference, synonymous-codon
rs111226880 -- 156,054,293(+) CCTAG(G/T)TTCTC upstream-variant-2KB
rs111447034 -- 156,054,203(+) ATAAC(C/T)TGGTC upstream-variant-2KB
rs111593253 -- 156,056,624(+) GAGAG(A/G)CAGGG intron-variant
rs111667150 -- 156,053,085(+) ACACC(G/T)TGTAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LAMTOR2 Gene

Variant ID Type Subtype PubMed ID
nsv509513 CNV insertion 20534489

Variation tolerance for LAMTOR2 Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMTOR2 Gene

Human Gene Mutation Database (HGMD)
LAMTOR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMTOR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMTOR2 Gene

Disorders for LAMTOR2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LAMTOR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency due to defect in mapbp-interacting protein
  • primary immunodeficiency syndrome due to p14 deficiency
t cell deficiency
  • t-lymphocyte deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LTOR2_HUMAN
  • Immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP) [MIM:610798]: This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. {ECO:0000269 PubMed:17195838}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMTOR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMTOR2
genes like me logo Genes that share disorders with LAMTOR2: view

No data available for Genatlas for LAMTOR2 Gene

Publications for LAMTOR2 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  2. SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1. (PMID: 25561175) Rebsamen M. … Superti-Furga G. (Nature 2015) 3 4 64
  3. Ragulator is a GEF for the Rag GTPases that signal amino acid levels to mTORC1. (PMID: 22980980) Bar-Peled L. … Sabatini D.M. (Cell 2012) 3 4 64
  4. Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. (PMID: 20381137) Sancak Y. … Sabatini D.M. (Cell 2010) 3 4 64
  5. Integral and associated lysosomal membrane proteins. (PMID: 17897319) Schroeder B. … Hasilik A. (Traffic 2007) 3 4 64

Products for LAMTOR2 Gene

Sources for LAMTOR2 Gene

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