Homo sapiens Gene: RAG2
Summary
InnateDB Gene IDBG-40186.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RAG2
Gene Name recombination activating gene 2
Synonyms RAG-2;
Species Homo sapiens
Ensembl Gene ENSG00000175097
Encoded Proteins
recombination activating gene 2
recombination activating gene 2
recombination activating gene 2
recombination activating gene 2
recombination activating gene 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:36575574-36598279
Strand Reverse strand
Band p12
Transcripts
ENST00000311485 ENSP00000308620
ENST00000524423
ENST00000529083 ENSP00000436327
ENST00000527033 ENSP00000436895
ENST00000532616 ENSP00000432174
ENST00000534379
ENST00000528428
ENST00000530276
ENST00000618712 ENSP00000478672
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0008270 zinc ion binding
GO:0035064 methylated histone binding
GO:0035091 phosphatidylinositol binding
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding
Biological Process
GO:0002326 B cell lineage commitment
GO:0002331 pre-B cell allelic exclusion
GO:0002358 B cell homeostatic proliferation
GO:0002360 T cell lineage commitment
GO:0006310 DNA recombination
GO:0016568 chromatin modification
GO:0030183 B cell differentiation
GO:0030217 T cell differentiation
GO:0033077 T cell differentiation in thymus
GO:0033151 V(D)J recombination
GO:0046622 positive regulation of organ growth
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Primary immunodeficiency pathway
INOH
PID BIOCARTA
PID NCI
C-MYB transcription factor network
Cross-References
SwissProt P55895
TrEMBL E9PPU5 E9PQB9 Q71UK1 Q9BYY1
UniProt Splice Variant
Entrez Gene 5897
UniGene Hs.714519
RefSeq NM_000536 NM_001243785 NM_001243786
HUGO HGNC:9832
OMIM 179616
CCDS CCDS7903
HPRD 08913
IMGT
EMBL AC139427 AF080577 AK292664 AY011962 BC022397 CH471064 M94633
GenPept AAC35287 AAG38705 AAH22397 BAF85353 EAW68117
RNA Seq Atlas 5897