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

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles

Predicted location

Intracellular

Protein family

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

Chromosome

1:q22 (156054782 - 156058506)

Ensembl ID

ENSG00000116586  (ver. 103.38)

Orthologs

Mouse Lamtor2: ENSMUSG00000028062

UniProt

Q9Y2Q5

neXtProt

NX_Q9Y2Q5

Human splice variants
Mouse splice variants