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: IFTAP

Alternate names for this Gene: C11orf74|HEPIS|NWC

Gene Summary: This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11p12

Description of this Gene: intraflagellar transport associated protein

Type of Gene: protein-coding

rs748727021 in RAG2;IFTAP gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 26692406 2016 Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.

PMID 16111638 2005 A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.

PMID 18033247 2007 RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

rs121917895 in RAG2;IFTAP gene and Omenn Syndrome PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

rs121917895 in RAG2;IFTAP gene and Primary immune deficiency disorder PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

PMID 21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.

rs121917895 in RAG2;IFTAP gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.

PMID 16960852 2006 RAG-dependent primary immunodeficiencies.

PMID 16111638 2005 A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination.

PMID 18033247 2007 RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.

PMID 26692406 2016 Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.