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
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
rs121918574 in
IFTAP;RAG2 gene and
Combined Cellular And Humoral Immune Defects With Granulomas
PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.
PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
PMID 10891502 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.
PMID 26186701 2015 Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
rs148508754 in
IFTAP;RAG2 gene and
Omenn Syndrome
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 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
PMID 16960852 2006 RAG-dependent primary immunodeficiencies.
PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.
PMID 26186701 2015 Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
PMID 10891502 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
rs121917897 in
IFTAP;RAG2 gene and
Primary immune deficiency disorder
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 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.
PMID 16960852 2006 RAG-dependent primary immunodeficiencies.
PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
rs121917894 in
IFTAP;RAG2 gene and
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
PMID 8810255 1996 RAG mutations in human B cell-negative SCID.
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 16960852 2006 RAG-dependent primary immunodeficiencies.
PMID 15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
PMID 23243423 2012 Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
PMID 25707801 2015 Crystal structure of the V(D)J recombinase RAG1-RAG2.
PMID 26186701 2015 Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
PMID 10891502 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.