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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
Enables sequence-specific DNA binding activity. Contributes to double-stranded DNA endodeoxyribonuclease activity. Acts upstream of or within immune system development and protein-DNA complex assembly. Part of DNA recombinase complex and endodeoxyribonuclease complex. Is expressed in immune system and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Orthologous to human RAG2 (recombination activating 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
19 figures from 16 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rag2 Human Ortholog
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
Associated With rag2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
UniProtKB:Q4QUX7 407
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations