• Gene id: 5897

Gene Summary

• Gene Symbol: RAG2   Gene   UCSC   Ensembl
• Aliases: RAG-2
• Gene name: recombination activating 2
• Alternate names: V(D)J recombination-activating protein 2, recombination activating gene 2,
• Gene location: 11p12 (36598278: 36591942)     Exons: 3     NC_000011.10
• Gene summary(Entrez): 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 b

Protein Summary

• Protein general information: P55895  
  • Name: V(D)J recombination activating protein 2 (RAG 2)
  • Length: 527  
  • Mass: 59241
  • Tissue specificity: Cells of the B- and T-lymphocyte lineages.
• Sequence:

  MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLPPLRYP
  ATCTFKGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGK
  SMGVLFGGRSYMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLA
  NNIRPANLYRIRVDLPLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIR
  EMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDS
  TPFEDSEEFCFSAEANSFDGDDEFDTYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGD
  GHWVHAQCMDLAERTLIHLSAGSNKYYCNEHVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRL
  FD

• Structural information:
  • Interpro: IPR011043  IPR015915  IPR004321  IPR025162  IPR011011  
  • CDD: cd15569
  • STRING: ENSP00000478672
• Other Databases: GeneCards:  RAG2  Malacards:  RAG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033151	V(D)J recombination	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0097519	DNA recombinase complex	IBA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	ISS	molecular function
GO:0035064	methylated histone binding	ISS	molecular function
GO:0033151	V(D)J recombination	ISS	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0008270	zinc ion binding	ISS	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	ISS	molecular function
GO:0035091	phosphatidylinositol binding	ISS	molecular function
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	ISS	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0035064	methylated histone binding	IEA	molecular function
GO:0033151	V(D)J recombination	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0002358	B cell homeostatic proliferation	IEA	biological process
GO:0002326	B cell lineage commitment	IEA	biological process
GO:0046622	positive regulation of organ growth	IEA	biological process
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IEA	molecular function
GO:0042742	defense response to bacterium	IEA	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IEA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0002360	T cell lineage commitment	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04068	FoxO signaling pathway
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
T-B-Severe combined immunodeficiency	KEGG:H00092
Combined immunodeficiency	KEGG:H00093
T-B-Severe combined immunodeficiency	KEGG:H00092
Omenn syndrome	PMID:9630231
severe combined immunodeficiency	PMID:8810255
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R