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

中文名称:晚期内体/溶酶体衔接子、MAPK 和 MTOR 激活子 2

种属: Homo sapiens

同用名: p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2

基因 ID: 28956 | 基因类型: protein coding

关于 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.

功能概要

该基因的产物与与晚期内体和溶酶体的细胞质面相关的小鼠蛋白高度保守。小鼠蛋白与 MAPK 支架蛋白 1 相互作用,MAPK 支架蛋白 1 是丝裂原活化蛋白激酶途径的一个组成部分。在人类中,该基因的突变与原发性免疫缺陷综合征有关,并表明该蛋白质在内体生物发生中的作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
22980980 GOA
contributes to molecular adaptor activity IDA
IDA: 通过直接分析推断
22980980 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20381137 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to amino acid stimulus IDA
IDA: 通过直接分析推断
22980980 GOA
involved in cellular response to amino acid stimulus IMP
IMP: 通过突变表型推断
20381137 GOA
involved in positive regulation of TOR signaling IMP
IMP: 通过突变表型推断
20381137 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
28935770 GOA
involved in protein localization IMP
IMP: 通过突变表型推断
20381137 GOA
involved in regulation of cell growth IMP
IMP: 通过突变表型推断
20381137 GOA
acts upstream of or within regulation of cell-substrate junction organization IMP
IMP: 通过突变表型推断
24841562 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of FNIP-folliculin RagC/D GAP IDA
IDA: 通过直接分析推断
36103527 GOA
part of Ragulator complex IDA
IDA: 通过直接分析推断
20381137 GOA
part of Ragulator complex IPI
IPI: 通过物理相互作用推断
28935770 GOA
is active in lysosomal membrane IDA
IDA: 通过直接分析推断
29158492 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

LAMTOR2 蛋白结构

Robl_LC7

Robl_LC7: Roadblock/LC7 domain (8 - 95)

  • 0
  • 100
  • 125 a.a.
蛋白主名 其他名称

ragulator complex protein LAMTOR2

MAPBP-interacting protein

重组 LAMTOR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77053 LAMTOR2 Protein, Human (His) Q9Y2Q5-1 (M1-S125) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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