RAG2 (recombination activating 2)

2003-05-01  

Identity

HGNC
LOCATION
11p12
LOCUSID
ALIAS
RAG-2
FUSION GENES

Other Information

Locus ID:

NCBI: 5897
MIM: 179616
HGNC: 9832
Ensembl: ENSG00000175097

Variants:

dbSNP: 5897
ClinVar: 5897
TCGA: ENSG00000175097
COSMIC: RAG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175097ENST00000311485P55895
ENSG00000175097ENST00000527033E9PQB9
ENSG00000175097ENST00000529083E9PPU5
ENSG00000175097ENST00000618712P55895

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Primary immunodeficiencyKEGGko05340
Primary immunodeficiencyKEGGhsa05340
FoxO signaling pathwayKEGGhsa04068
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-7 signalingREACTOMER-HSA-1266695
Signal TransductionREACTOMER-HSA-162582
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK6/MAPK4 signalingREACTOMER-HSA-5687128

References

Pubmed IDYearTitleCitations
180332472007RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.217
184633792008An immunodeficiency disease with RAG mutations and granulomas.65
159494442005Ubiquitylation of RAG-2 by Skp2-SCF links destruction of the V(D)J recombinase to the cell cycle.52
269961992016Human RAG mutations: biochemistry and clinical implications.52
174763582007A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.43
146242532003T cell receptor-independent basal signaling via Erk and Abl kinases suppresses RAG gene expression.39
122003792002The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.29
227372482012Multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor.29
147268052004Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.27
193591542009Mechanisms controlling expression of the RAG locus during lymphocyte development.27

Citation

Dessen P

RAG2 (recombination activating 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/351/rag2