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... See more...

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
  • Ragulator Complex Protein LAMTOR2 3 4
  • Endosomal Adaptor Protein P14 3 4
  • Roadblock Domain Containing 3 2 3
  • 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 4
  • Mitogen Activated Protein Binding Protein Interacting Protein 2
  • 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 mTOR signalling and RET signaling. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and protein-containing complex scaffold activity.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for LAMTOR2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMTOR2 Gene

Genomics for LAMTOR2 Gene

GeneHancer (GH) Regulatory Elements for LAMTOR2 Gene

Promoters and enhancers for LAMTOR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMTOR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMTOR2

Genomic Locations for LAMTOR2 Gene

Genomic Locations for LAMTOR2 Gene
chr1:156,054,726-156,058,510
(GRCh38/hg38)
Size:
3,785 bases
Orientation:
Plus strand
chr1:156,024,517-156,028,301
(GRCh37/hg19)
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).

    Three dimensional structures from OCA and Proteopedia for LAMTOR2 Gene

    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

No data available for DME Specific Peptides for LAMTOR2 Gene

Domains & Families for LAMTOR2 Gene

Gene Families for LAMTOR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LAMTOR2 Gene

Blocks:
  • Roadblock/LC7 family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMTOR2 Gene

GenScript: Design optimal peptide antigens:
  • Roadblock domain-containing protein 3 (LTOR2_HUMAN)

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.

Phenotypes From GWAS Catalog for LAMTOR2 Gene

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 IBA,IDA 22980980
GO:0005515 protein binding IPI 20381137
GO:0060090 contributes_to molecular adaptor activity 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

CRISPR Products

miRNA for LAMTOR2 Gene

miRTarBase miRNAs that target LAMTOR2

Clone 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
endosome 5
plasma membrane 4
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

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:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with LAMTOR2: view

Pathways & Interactions for LAMTOR2 Gene

PathCards logo

SuperPathways for LAMTOR2 Gene

SuperPathway Contained pathways
1 RET signaling
2 mTOR signalling
3 Innate Immune System
4 MAPK-Erk Pathway
5 Developmental Biology
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 KEGG pathway for LAMTOR2 Gene
1 R&D Systems pathway for LAMTOR2 Gene
1 Cell Signaling Technology 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:0001558 regulation of cell growth IMP 20381137
GO:0007050 cell cycle arrest TAS --
GO:0016241 regulation of macroautophagy TAS --
genes like me logo Genes that share ontologies with LAMTOR2: view

No data available for SIGNOR curated interactions for LAMTOR2 Gene

Drugs & Compounds for LAMTOR2 Gene

No Compound Related Data Available

Transcripts for LAMTOR2 Gene

mRNA/cDNA for LAMTOR2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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, MaxQB, and MOPED for LAMTOR2 Gene



Protein tissue co-expression partners for LAMTOR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMTOR2

SOURCE GeneReport for Unigene cluster for LAMTOR2 Gene:

Hs.632483

Evidence on tissue expression from TISSUES for LAMTOR2 Gene

  • Liver(4.4)
  • Blood(4.3)
  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMTOR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • respiratory
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • bronchus
  • lung
General:
  • blood
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LAMTOR2: view

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 31 30
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMTOR2 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMTOR2 31 30
  • 92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lamtor2 17 31 30
  • 91.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR2 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamtor2 30
  • 90.93 (n)
dog
(Canis familiaris)
Mammalia LAMTOR2 31 30
  • 90.67 (n)
OneToOne
chicken
(Gallus gallus)
Aves LAMTOR2 31
  • 94 (a)
OneToOne
LOC100859842 30
  • 83.5 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia lamtor2 30
  • 79.47 (n)
Str.3502 30
African clawed frog
(Xenopus laevis)
Amphibia cg5189-prov 30
zebrafish
(Danio rerio)
Actinopterygii lamtor2 31 30
  • 78.67 (n)
OneToOne
Dr.19588 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8440 30
fruit fly
(Drosophila melanogaster)
Insecta CG5189 31 30
  • 66.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007213 30
  • 64.8 (n)
worm
(Caenorhabditis elegans)
Secernentea Y97E10AR.7 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LAMTOR2: view image

Paralogs for LAMTOR2 Gene