TNFRSF13C

TNF receptor superfamily member 13C

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

From NCBI Gene:

B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]

From UniProt:

B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Common variable immunodeficiency 2
  • Common variable immunodeficiency 4

From UniProt:

Immunodeficiency, common variable, 4 (CVID4): A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. [MIM:613494]

Cytogenetic Location: 22q13.1-q13.31, which is the long (q) arm of chromosome 22 between positions 13.1 and 13.31

Molecular Location: base pairs 41,925,032 to 41,926,817 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.1-q13.31, which is the long (q) arm of chromosome 22 between positions 13.1 and 13.31
  • BAFF-R
  • BAFFR
  • BROMIX
  • CD268
  • CVID4
  • prolixin