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  2. RAG2 - recombination activating 2 Gene

RAG2 - recombination activating 2 Gene

中文名称:重组激活 2

种属: Homo sapiens

同用名: RAG-2

基因 ID: 5897 | 基因类型: protein coding

关于 RAG2

Cytogenetic location: 11p12 Genomic coordinates (GRCh38): 11:36,590,996-36,598,236 (from NCBI)

This gene has 8 transcripts (splice variants), 188 orthologues and is associated with 7 phenotypes. Restricted expression toward thyroid (RPKM 16.6).

功能概要

该基因编码一种蛋白质,该蛋白质参与 B 细胞和 T 细胞发育过程中 V (D) J 重组的启动。该蛋白与相邻的重组激活基因 1 的产物形成复合物,该复合物可通过在保守的重组信号序列处切割 DNA 形成双链断裂。重组激活基因 1 成分被认为包含大部分催化活性,而重组激活基因 2 成分的 N 端被认为在活性核心中形成六叶螺旋桨,作为紧密结合支架复合物与 DNA 的结合。该蛋白的 C 端植物同源域指状基序是与染色质成分相互作用所必需的,特别是与在赖氨酸 4 处三甲基化的组蛋白 H3 相互作用。该基因突变导致 Omenn 综合征,一种与自身免疫相关的严重联合免疫缺陷像症状。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]

RAG2 基因产物(3)

mRNA Protein Name
NM_000536.4 NP_000527.2 V(D)J recombination-activating protein 2
NM_001243785.2 NP_001230714.1 V(D)J recombination-activating protein 2
NM_001243786.2 NP_001230715.1 V(D)J recombination-activating protein 2

RAG2 蛋白结构

RAG2

RAG2: Recombination activating protein 2 (51 - 389)

RAG2_PHD

RAG2_PHD: RAG2 PHD domain (414 - 491)

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  • 527 a.a.
蛋白主名 其他名称

V(D)J recombination-activating protein 2

recombination activating gene 2

RAG2 抗体

目录号 产品名 应用 反应物种
HY-P85346 RAG-2 Antibody (YA5038) WB Human, Mouse

关联疾病

疾病名称 别名
Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Combined Cellular And Humoral Immune Defects With Granulomas

Combined Immunodeficiency With Skin Granulomas

CCHIDG

Cid Due To Rag 1/2 Deficiency

Combined Immunodeficiency Due To Rag 1/2 Deficiency

Combined Immunodeficiency With Granulomatosis

CHIDG

Immune Defects, Combined Cellular And Humoral With Granulomas

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

Severe Combined Immunodeficiency, B Cell-Negative

T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency

Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency

Scid Due To Complete Rag1/2 Deficiency

T B NK SCID

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

Scid, Autosomal Recessive, T-Negative/B-Positive Type

Autosomal Recessive T Cell-Negative, B-Cell Negative, Nk Cell-Positive Scid

Scid Due To Complete Rag1-2 Deficiency

Severe Combined Immunodeficiency Due To Complete Rag1-2 Deficiency

Scid, Ar, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Jak3-Deficient Severe Combined Immunodeficiency

Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency

Autosomal Recessive T-B+Nk- Scid

Jak3 Scid

T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid

T-B+ Scid Due To Jak3 Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive

Scid T Cell-Negative B Cell-Negative Nk Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/B Cell-Negative/Nk Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Negative/Nk-Cell Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/B Cell-Positive/Nk Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Positive/Nk-Cell Negative

Immunodeficiency, Severe Combined, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Immunodeficiency, Severe Combined, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

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

Recombinase Activating Gene 2 Deficiency
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

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

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

Recombinase Activating Gene 1 Deficiency
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

Severe Combined Immunodeficiency, Athabascan Type

Severe Combined Immunodeficiency Due To Dclre1c Deficiency

Rs-Scid

Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation

Scid Due To Artemis Deficiency

Scid Due To Dclre1c Deficiency

Scid, Athabascan Type

Scid, Athabaskan Type

Severe Combined Immunodeficiency Due To Artemis Deficiency

Severe Combined Immunodeficiency, Athabaskan Type

SCIDA

Severe Combined Immunodeficiency, Athabascan-Type

Artemis Deficiency

Severe Combined Immunodeficiency Athabaskan Type

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation

RSSCID

Athabascan Scid

Immunodeficiency, Severe Combined, Athabascan Type

Severe Combined Immunodeficiency, Athabaskan-Type

T Cell Deficiency

T Cell Immunodeficiency

T Lymphocyte Deficiency

T Lymphocyte Immunodeficiency

T-Lymphocyte Deficiency

Janus Kinase-3 Deficiency
Inflammatory Bowel Disease 15

IBD15

Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Loeffler Syndrome

Loeffler'S Pneumonia

Loffler'S Syndrome

Simple Pulmonary Eosinophilia

Immunodeficiency With Hyper-Igm, Type 1

Immunodeficiency, X-Linked, With Hyper-Igm

Hyper Igm Syndrome

HIGM1

Xhim

Hyper-Igm Syndrome

Higm

Hyper-Igm Syndrome 1

Immunodeficiency 3

Imd3

Immunodeficiency With Hyper-Igm

Immunodeficiency With Hyper Igm Type 1

Ihis

X-Linked Hyper Igm Syndrome

Hyper-Igm Immunodeficiency, X-Linked

Hyper Igm Immunodeficiency, X-Linked

Hyper Igm Syndrome 1

X-Linked Immunodeficiency With Hyper-Igm 1

Immunodeficiency, With Hyper Igm

Immunodeficiency, With Hyper Igm, Type 1

Hyper-Igm Immunodeficiency Syndrome, Type 1

Hyperimmunoglobulin M Syndrome

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency

Lig4 Syndrome

Dna Ligase Iv Deficiency

Ligase 4 Syndrome

LIG4S

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency

Pnp Deficiency

Nucleoside Phosphorylase Deficiency

Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

Deficiency Of Inosine Phosphorylase

Pnpase Deficiency

PNPD

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency

B Cell Deficiencies

Immunoglobulin Heavy Chain Deletion

Humoral Immune Defect

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Sodoku Disease

Spirillosis

Sodoku

Spirillary Fever

Rat-Bite Fever

Rat-Bite Fever Due To Spirillum Minus

Spirillary Rat-Bite Fever

Sokosho

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Inflammatory Bowel Disease 18

IBD18

Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos

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
Canis familiaris RAG2 VGNC VGNC:45327
Rattus norvegicus RAG2 RGD RGD:1305588
Bos taurus RAG2 VGNC VGNC:33694
Macaca mulatta RAG2 VGNC VGNC:76650
Mus musculus RAG2 MGD MGI:97849
Felis catus RAG2 VGNC VGNC:81952