1. Gene
  2. LAMTOR2 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Gene

LAMTOR2 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Gene

Homo sapiens

Also known as p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2

Gene ID: 28956 | Gene type: protein coding

About LAMTOR2

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,054,782-156,058,506 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 22.1), liver (RPKM 22.0) and 25 other tissues.

Summary

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]

LAMTOR2 Products(2)

mRNA Protein Name
NM_001145264.2 NP_001138736.1 ragulator complex protein LAMTOR2 isoform 2
NM_014017.4 NP_054736.1 ragulator complex protein LAMTOR2 isoform 1

LAMTOR2 Protein Structure

Robl_LC7

Robl_LC7: Roadblock/LC7 domain (8 - 95)

  • 0
  • 100
  • 125 a.a.
Protein Preferred Names Protein Names

ragulator complex protein LAMTOR2

MAPBP-interacting protein

Recombinant LAMTOR2 Proteins

Cat. No. Product Name Accession Purity
HY-P77053 LAMTOR2 Protein, Human (His) Q9Y2Q5-1 (M1-S125) ≥95%

Related Diseases

Diseases Alias
Immunodeficiency Due To Defect In Mapbp-Interacting Protein

Primary Immunodeficiency Syndrome Due To P14 Deficiency

Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency

Primary Immunodeficiency Syndrome With Short Stature

ID-MAPBPIP

T Cell Deficiency

T Cell Immunodeficiency

T Lymphocyte Deficiency

T Lymphocyte Immunodeficiency

T-Lymphocyte Deficiency

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LAMTOR2 RGD RGD:1562501
Mus musculus LAMTOR2 MGD MGI:1932697
Macaca mulatta LAMTOR2 VGNC VGNC:74163
Bos taurus LAMTOR2 VGNC VGNC:30780
Felis catus LAMTOR2 VGNC VGNC:63189
Others LAMTOR2 NCBI