RAG2 - recombination activating 2 Gene

Also Known as RAG-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5897

About 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).

Summary

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 Products (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 Protein Structure

RAG2

RAG2_PHD

0
100
200
300
400
500
527 a.a.

Protein Preferred Names	Protein Names
V(D)J recombination-activating protein 2	recombination activating gene 2

RAG2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85346	RAG-2 Antibody (YA5038)	WB	Human, Mouse

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125675	VPC-16606	Inhibitor	/	Unkown
HY-RS11623	RAG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RAG2	NCBI