LAMTOR2 gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Immunodeficiency due to defect in mapbp-interacting protein

From UniProt:

Immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP): This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. [MIM:610798]

Cytogenetic Location: 1q22, which is the long (q) arm of chromosome 1 at position 22

Molecular Location: base pairs 156,054,726 to 156,058,510 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q22, which is the long (q) arm of chromosome 1 at position 22
  • ENDAP
  • HSPC003
  • MAPBPIP
  • MAPKSP1AP
  • p14
  • Ragulator2
  • ROBLD3