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FLASH GENE

Symbol

RAG2

contributors: mct/npt/pgu - updated : 27-01-2010

HGNC name	recombination activating gene 2
HGNC id	9832

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000536 2 - 2440 NP_000527 - 527 - 1995 7774617

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive intestine small intestine     highly Lymphoid/Immune lymph node       moderately   thymus       specific Reproductive male system testis     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid lymphoid nodule germinal center

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic thymocyte Lymphoid/Immune B cell Lymphoid/Immune T cell

cell lineage	B cell lineage
	T lymphocyte lineage
cell lines
fluid/secretion

at STAGE

cell cycle

cell cycle

life cycle

G0

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	six bladded beta propeller molecule
	four Kelch repeats
	a "core" domain that is required for the recombination reaction
	C-terminal region from amino acids 417 to 484, PHD domain, a functionally important domain involved in chromatin-mediated gene regulation by protein-protein interaction, nonessential or "non-core" region and a region (AA 491-527), downstream of the putative PHD domain, directing the nuclear localization of the protein, and although dispensable for recombination, is critical for maintaining genomic stability, and inhibiting lymphomagenesis

mono polymer

heteromer , dimer , complex

HOMOLOGY

interspecies	ortholog to murine Rag2
	ortholog to rattus rag2

Homologene

FAMILY

RAG2 family

CATEGORY

immunity/defense , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus
text	localized in the epithelial layer and absent in the lamina propria of intestine

basic FUNCTION	acting as an endonuclease
	involved in the generation of antibody gene diversity
	catalyze V(D)J recombination and is essential for generation of the diverse repertoire of antigen receptor genes and effective immune responses
	required to assemble mature Ag receptor genes in developing lymphocytes
	required for the rearrangement of antigen receptor genes
	core RAG2 impairs the stability of the RAG post-cleavage complex
	having a genome guardian role

CELLULAR PROCESS

nucleotide, recombination

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	heterodimerizing with RAG1
	involved in RAG complexes containing three to five molecules of RAG2 for each molecule of RAG1
	essential component of the RAG1/2 V(D)J recombinase, which mediates antigen-receptor gene assembly--contains a plant homeodomain (PHD) finger that specifically recognizes histone H3 trimethylated at lysine 4 (H3K4me3)

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

inhibited by

activation of Abl and Erk kinases in T cells, leading to the transcriptional inactivation of RAG1 and RAG2

ASSOCIATED DISORDERS

corresponding disease(s)

SCIDO , SCIDBL , CCHIG

related resource

RAG2base: Mutation registry for autosomal recessive RAG2 immunodeficiency

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS