RAG2: Recombination Activating Gene 2
Key regulator of V(D)J recombination and immune system development
Gene Information Card
| Symbol | RAG2 |
|---|---|
| Full Name | Recombination activating gene 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p12 |
| NCBI Gene ID | 5897 ncbi.nlm.nih.gov/gene/5897 |
| Ensembl ID | ENSG00000175097 |
| UniProt ID | P55895 |
| OMIM ID | 179616 |
| HGNC ID | 9832 |
| Aliases | RAG-2, RAG2_HUMAN |
Description
The RAG2 gene encodes the recombination activating gene 2 protein, which together with RAG1 initiates V(D)J recombination, a critical process for generating diverse immunoglobulin and T-cell receptor genes during lymphocyte development. RAG2 is essential for the formation of functional B and T cells and thus for adaptive immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) due to RAG2 deficiency | Loss-of-function mutations in RAG2 impair V(D)J recombination, leading to absence of mature B and T cells. | ClinVar, OMIM |
| Omenn syndrome | Hypomorphic RAG2 mutations allow partial V(D)J recombination, resulting in oligoclonal T cells and severe autoimmune-like inflammation. | ClinVar, OMIM |
| Combined immunodeficiency with granulomatous disease | RAG2 mutations can cause atypical presentations with granulomatous inflammation and autoimmunity. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymphoid tissues (thymus, spleen, lymph nodes) | High | High |
| Bone marrow | Moderate | Moderate |
| Other tissues | Low or not detected | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | High | T-cell line |
| Raji (Burkitt lymphoma) | High | B-cell line |
| HEK293 (embryonic kidney) | Low | Non-lymphoid control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256_257del (p.Leu86Valfs*33) | Frameshift | Common in SCID | Loss of function |
| c.475C>T (p.Arg159Trp) | Missense | Associated with Omenn syndrome | Hypomorphic |
| c.1189C>T (p.Arg397Cys) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Complete loss of RAG2 activity abolishes V(D)J recombination, causing SCID with no B or T cells.
Gain of Function (GOF)
Not described for RAG2; gain-of-function mutations are not reported in the literature.
Dominant Negative (DN)
Some missense mutations may interfere with RAG1/2 complex function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • nuclease activity (GO:0004518) | • DNA recombination (GO:0006310) |
| • immune system process (GO:0002376) |
Pathways
• V(D)J recombination (Reactome: R-HSA-5693568)
• Adaptive immune system (Reactome: R-HSA-168256)
Protein Summary
RAG2 is a 527-amino acid protein that forms a complex with RAG1 to cleave DNA at recombination signal sequences (RSS) during V(D)J recombination. It contains a plant homeodomain (PHD) finger that binds histone H3 trimethylated at lysine 4 (H3K4me3), regulating its activity. RAG2 is expressed predominantly in developing lymphocytes and is essential for immune diversity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRAG2 Knockout HEK293 Cell Line | EDJ-KQ5141 | Human | 4033 | Details Get a Quote |
| RAG2 Knockout HEK293 Cell Line | EDJ-KQ50559 | Human | 5897 | Details Get a Quote |
| IRAG2 Knockout HeLa Cell Line | EDJ-KQ53804 | Human | 4033 | Details Get a Quote |
| RAG2 Knockout HeLa Cell Line | EDJ-KQ54290 | Human | 5897 | Details Get a Quote |
| IRAG2 Knockout A-549 Cell Line | EDJ-KQ62285 | Human | 4033 | Details Get a Quote |
| RAG2 Knockout A-549 Cell Line | EDJ-KQ62786 | Human | 5897 | Details Get a Quote |
| IRAG2 Knockout HCT 116 Cell Line | EDJ-KQ70766 | Human | 4033 | Details Get a Quote |
| RAG2 Knockout HCT 116 Cell Line | EDJ-KQ71251 | Human | 5897 | Details Get a Quote |
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