RFXANK gene

regulatory factor X associated ankyrin containing protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

From UniProt:

Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1.

Isoform 2 is not involved in the positive regulation of MHC class II genes.

From NCBI Gene:

  • SCID due to absent class II HLA antigens

From UniProt:

Bare lymphocyte syndrome 2 (BLS2): A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. [MIM:209920]

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11

Molecular Location: base pairs 19,192,199 to 19,201,869 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11
  • ANKRA1
  • BLS
  • F14150_1
  • RFX-B