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