1. Gene
  2. RAC2 - Rac family small GTPase 2 Gene

RAC2 - Rac family small GTPase 2 Gene

中文名称:Rac 家族小 GTPase 2

种属: Homo sapiens

同用名: Gx; EN-7; IMD73A; IMD73B; IMD73C; HSPC022; p21-Rac2

基因 ID: 5880 | 基因类型: protein coding

关于 RAC2

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:37,225,270-37,244,269 (from NCBI)

This gene has 8 transcripts (splice variants), 235 orthologues, 22 paralogues and is associated with 4 phenotypes. Biased expression in lymph node (RPKM 157.7), bone marrow (RPKM 130.6) and 9 other tissues.

功能概要

该基因编码小鸟苷三磷酸 (GTP) 代谢蛋白 Ras 超家族的成员。编码的蛋白质定位于质膜,在那里它调节多种过程,例如分泌、吞噬作用和细胞极化。这种蛋白质的活性也参与活性氧的产生。该基因的突变与中性粒细胞免疫缺陷综合征有关。该基因在 6 号染色体上有一个假基因。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of Reactive Oxygen Species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

RAC2 基因产物(1)

mRNA Protein Name
NM_002872.5 NP_002863.1 ras-related C3 botulinum toxin substrate 2
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
enables GTP binding IMP
IMP: 通过突变表型推断
19625648 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22106281 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IMP
IMP: 通过突变表型推断
21167572 GOA
involved in lymphocyte aggregation IMP
IMP: 通过突变表型推断
21167572 GOA
involved in positive regulation of lamellipodium assembly IMP
IMP: 通过突变表型推断
19625648 GOA
involved in positive regulation of neutrophil chemotaxis IMP
IMP: 通过突变表型推断
19625648 GOA
involved in regulation of cell-substrate adhesion IMP
IMP: 通过突变表型推断
21167572 GOA
involved in regulation of neutrophil migration IMP
IMP: 通过突变表型推断
21167572 GOA
involved in regulation of respiratory burst IDA
IDA: 通过直接分析推断
16636067 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with actin filament IDA
IDA: 通过直接分析推断
19625648 GOA
located in cytosol IDA
IDA: 通过直接分析推断
19625648 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
19625648 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

RAC2 蛋白结构

Ras

Ras: Ras family (5 - 177)

  • 0
  • 100
  • 192 a.a.
蛋白主名 其他名称

ras-related C3 botulinum toxin substrate 2

Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)

RAC2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RAC2 P15153 HDAC7 Homo sapiens Q8WUI4-6
Validated Y2H
32296183
种属内
RAC2 P15153 ARFIP2 Homo sapiens P53365
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 RAC2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74607 RAC2 Protein, Human (His) P15153 (M1-C189) ≥95%

关联疾病

疾病名称 别名
Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis

Neutrophil Immunodeficiency Syndrome

IMD73A

Immunodeficiency 73a With Defective Neutrophil Chemotaxix And Leukocytosis

Immunodeficiency, Type 73a, With Defective Neutrophil Chemotaxix And Leukocytosis

Rac 2 Deficiency

Immunodeficiency 73b With Defective Neutrophil Chemotaxis And Lymphopenia

IMD73B

Immunodeficiency, Type 73b, With Defective Neutrophil Chemotaxis And Lymphopenia

Immunodeficiency 73c With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia

IMD73C

Lymphopenia

Lymphocytopenia

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Combined T And B Cell Immunodeficiency
Cellulitis
Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Systemic Mastocytosis

Systemic Mast Cell Disease

Systemic Tissue Mast Cell Disease

Mastocytosis, Systemic

Smcd - Systemic Mast Cell Disease

Smcd

Mast Cell Disease, Systemic

Systemic Mast-Cell Disease

Systemic Mastocytoses

Mastocytosis Systemic

Corneal Dystrophy, Subepithelial Mucinous

Smcd - [Systemic Mast Cell Disease]

Deafness, Autosomal Recessive 104

DFNB104

Autosomal Recessive Nonsyndromic Deafness 104

Autosomal Recessive Deafness 104

Deafness, Autosomal Recessive, 104

Deafness, Autosomal Recessive, Type 104

Food Allergy

Food Hypersensitivity

Food Allergies

Allergy Food

Food Allergen-Induced Hypersensitivity

Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1

Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Common Variable Immune Deficiency

Acquired Hypogammaglobulinemia

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Whim Syndrome 1

Whim Syndrome

Whims

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis

WHIMS1

Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1

Myelokathexis, Isolated

Wilm

Warts-Infections-Leukopenia-Myelokatexis Syndrome

Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

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
Macaca mulatta RAC2 VGNC VGNC:98432
Mus musculus RAC2 MGD MGI:97846
Felis catus RAC2 VGNC VGNC:69209
Rattus norvegicus RAC2 RGD RGD:1307568
Canis familiaris RAC2 VGNC VGNC:49610
Bos taurus RAC2 VGNC VGNC:49061
Others RAC2 NCBI