Gene
rag2
- ID
- ZDB-GENE-990415-235
- Name
- recombination activating gene 2
- Symbol
- rag2 Nomenclature History
- Previous Names
-
- zgc:136743
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Exhibits sequence-specific DNA binding activity. Contributes to double-stranded DNA endodeoxyribonuclease activity. Involved in immune system development and protein-DNA complex assembly. Localizes to DNA recombinase complex and endodeoxyribonuclease complex. Human ortholog(s) of this gene implicated in Omenn syndrome; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Is expressed in immune system and pleuroperitoneal region. Orthologous to human RAG2 (recombination activating 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 18 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| combined cellular and humoral immune defects with granulomas | Alliance | Combined cellular and humoral immune defects with granulomas | 233650 |
| Omenn syndrome | Alliance | Omenn syndrome | 603554 |
| severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | Alliance | Severe combined immunodeficiency, B cell-negative | 601457 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR025162 | Recombination activating protein 2, PHD domain |
| Family | IPR004321 | V-D-J recombination activating protein 2 |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR011043 | Galactose oxidase/kelch, beta-propeller |
| Homologous_superfamily | IPR015915 | Kelch-type beta propeller |
Domain Details Per Protein
| Protein | Length | Galactose oxidase/kelch, beta-propeller | Kelch-type beta propeller | Recombination activating protein 2, PHD domain | V-D-J recombination activating protein 2 | Zinc finger, FYVE/PHD-type |
|---|---|---|---|---|---|---|
|
UniProtKB:Q1RLW7
|
530 | |||||
|
UniProtKB:O13034
|
530 |
Interactions and Pathways
No data available
Plasmids
No data available