RAG2 Chromosome 11
Recombination activating 2
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What This Gene Does
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]
Gene Info
Gene Group
RAG transposon derived genes
Locus Type
gene with protein product
Location
11p12
Ensembl
ENSG00000175097
Associated Conditions (15)
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
RAG2-related disorder
Inborn genetic diseases
Immunodeficiency 104
Severe combined immunodeficiency disease
Common variable immunodeficiency
Key Variants
RS1204766339
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Combined immunodeficiency with skin granulomas, Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Health Risk
RS121918573
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, B cell-negative, Inborn error of immunity
Health Risk
RS1351286949
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS141659100
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS142797325
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS144812762
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS145614809
Conflicting classifications of pathogenicity
Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS147319483
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS147748696
Conflicting classifications of pathogenicity
Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS1479440369
Conflicting classifications of pathogenicity
Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS1851104914
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS202020106
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
All Variants (127)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2494791063 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS2494791448 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2494791806 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS2494797251 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS2494798134 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS2494799074 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2494799242 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas |
| RS746734641 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS748727021 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS750849852 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS754975137 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS755941834 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS762054841 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS765298019 | Health Risk | Pathogenic | Inborn error of immunity, Severe combined immunodeficiency, autosomal recessive |
| RS768567592 | Health Risk | Pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS773710101 | Health Risk | Pathogenic | Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency, Inborn error of immunity |
| RS1064793250 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS1064793251 | Health Risk | Pathogenic/Likely pathogenic | Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency, Recombinase activating gene 2 deficiency, Inborn error of immunity |
| RS1164927451 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121917895 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency, autosomal recessive |
| RS1224542443 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS148508754 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency, Recombinase activating gene 2 deficiency |
| RS2133311139 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2494795418 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS756694972 | Health Risk | Pathogenic/Likely pathogenic | Recombinase activating gene 2 deficiency, Inborn error of immunity, Histiocytic medullary reticulosis |
| RS764485070 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS786205616 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |