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
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
rs1204766339 in
IFTAP;RAG2;RAG1 gene and
Omenn Syndrome
PMID 22841008 2012 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
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 12200379 2002 The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
rs1204766339 in
IFTAP;RAG2;RAG1 gene and
Primary immune deficiency disorder
PMID 26457731 2015 Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
PMID 22841008 2012 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
PMID 12200379 2002 The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
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.