LAMTOR2

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]

Description

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

1:q22 (156054752 - 156058510)

Ensembl ID

ENSG00000116586  (ver. 84.38)

Orthologs

Mouse Lamtor2: ENSMUSG00000028062

UniProt

Q9Y2Q5

neXtProt

NX_Q9Y2Q5

Human splice variants
Mouse splice variants