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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
  • 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 primary immunodeficiency syndrome due to p14 deficiency. Among its related pathways are Gene Expression and Signaling by GPCR. 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

Promoters for LAMTOR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMTOR2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for LAMTOR2 Gene at MOPED

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)

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

InterPro:
Blocks:
ProtoNet:

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.
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for LAMTOR2 Gene COMPARTMENTS Subcellular localization image for LAMTOR2 gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
vacuole 5
mitochondrion 2
nucleus 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LAMTOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0070062 extracellular exosome IDA 23376485
GO:0071986 Ragulator complex IDA 20381137
genes like me logo Genes that share ontologies with LAMTOR2: view

Pathways & Interactions for LAMTOR2 Gene

SuperPathways for LAMTOR2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 mTOR signalling
3 Gene Expression
4 Signaling by GPCR
5 Immune System
genes like me logo Genes that share pathways with LAMTOR2: view

Pathways by source 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,TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007050 cell cycle arrest TAS --
GO:0007173 epidermal growth factor receptor signaling pathway 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

Unigene Clusters for LAMTOR2 Gene

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

CRISPR Products

Inhibitory RNA 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 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, MOPED, and MaxQB for LAMTOR2 Gene



SOURCE GeneReport for Unigene cluster for LAMTOR2 Gene Hs.632483

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

Protein tissue co-expression partners for LAMTOR2 Gene

Primer Products

In Situ Assay 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 36
  • 73 (a)
OneToOne
LAMTOR2 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia LAMTOR2 35
  • 92 (n)
  • 100 (a)
LAMTOR2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMTOR2 36
  • 68 (a)
OneToOne
LAMTOR2 35
  • 90.67 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Lamtor2 16
Lamtor2 36
  • 99 (a)
OneToOne
Lamtor2 35
  • 91.2 (n)
  • 99.2 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMTOR2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamtor2 35
  • 90.93 (n)
  • 99.2 (a)
chicken
(Gallus gallus)
Aves LOC100859842 35
  • 83.5 (n)
  • 94.95 (a)
LAMTOR2 36
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cg5189-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lamtor2 35
  • 79.47 (n)
  • 93.6 (a)
Str.3502 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8440 35
zebrafish
(Danio rerio)
Actinopterygii lamtor2 36
  • 96 (a)
OneToOne
Dr.19588 35
lamtor2 35
  • 78.67 (n)
  • 96 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007213 35
  • 64.8 (n)
  • 63.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5189 36
  • 70 (a)
OneToOne
CG5189 35
  • 66.67 (n)
  • 69.6 (a)
worm
(Caenorhabditis elegans)
Secernentea Y97E10AR.7 36
  • 37 (a)
OneToOne
Species with no ortholog for LAMTOR2:
  • 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
rs11801987 -- 156,056,763(+) ACTCT(A/C)CCCTA intron-variant
rs11579394 -- 156,057,011(+) catct(C/G)tacta intron-variant
rs12066277 -- 156,057,151(+) ccagc(C/T)tgggc intron-variant
rs16837153 -- 156,056,741(+) CTTCA(C/T)TGTAA intron-variant
rs60914989 -- 156,057,196(+) AAAAA(-/A/AA)GAAAT intron-variant

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

HapMap Linkage Disequilibrium report
LAMTOR2
Human Gene Mutation Database (HGMD)
LAMTOR2

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

Disorders for LAMTOR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency due to defect in mapbp-interacting protein
  • id-mapbpip
primary immunodeficiency syndrome due to p14 deficiency
  • primary immunodeficiency syndrome with short stature
neutropenia, severe congenital, 5, autosomal recessive
  • severe congenital neutropenia, autosomal recessive, 5
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 67
  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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for LAMTOR2 Gene

Sources for LAMTOR2 Gene

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