Gene: RAG2
Alternate names for this Gene: RAG-2
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.
Gene is located in Chromosome: 11
Location in Chromosome : 11p12
Description of this Gene: recombination activating 2
Type of Gene: protein-coding
Gene: RAG1
Alternate names for this Gene: RAG-1|RNF74
Gene Summary: The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases.
Gene is located in Chromosome: 11
Location in Chromosome : 11p12
Description of this Gene: recombination activating 1
Type of Gene: protein-coding
rs121918569 in
RAG2;RAG1 gene and
Combined Cellular And Humoral Immune Defects With Granulomas
PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.
PMID 18442948 2008 Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
rs104894290 in
RAG2;RAG1 gene and
Omenn Syndrome
PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.
PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
rs539590514 in
RAG2;RAG1 gene and
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
PMID 11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
PMID 24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
PMID 18442948 2008 Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.