BAFF receptor

TNFRSF13C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MPV, 1OQE, 1OSX, 2HFG, 3V56, 4V46
Identifiers
Aliases	TNFRSF13C, BAFF-R, BAFFR, BROMIX, CD268, CVID4, prolixin, tumor necrosis factor receptor superfamily member 13C, TNF receptor superfamily member 13C
External IDs	OMIM: 606269 MGI: 1919299 HomoloGene: 49897 GeneCards: TNFRSF13C
Gene location (Human) Chr. Chromosome 22 (human) Band 22q13.2 Start 41,922,032 bp End 41,926,806 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E1 Start 82,105,944 bp End 82,108,570 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen lymph node appendix bone marrow cells blood thymus ganglionic eminence skin of abdomen rectum gallbladder Top expressed in spleen blood submandibular gland subcutaneous adipose tissue morula white adipose tissue spermatid bone marrow Paneth cell hair follicle More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 115650 72049 Ensembl ENSG00000159958 ENSMUSG00000068105 UniProt Q96RJ3 Q9D8D0 RefSeq (mRNA) NM_052945 NM_028075 NM_001357758 RefSeq (protein) NP_443177 NP_082351 NP_001344687 Location (UCSC) Chr 22: 41.92 – 41.93 Mb Chr 15: 82.11 – 82.11 Mb PubMed search
Wikidata
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BAFF receptor (B-cell activating factor receptor, BAFF-R), also known as tumor necrosis factor receptor superfamily member 13C (TNFRSF13C) and BLyS receptor 3 (BR3), is a membrane protein of the TNF receptor superfamily which recognizes BAFF, an essential factor for B cell maturation and survival. In humans it is encoded by the TNFRSF13C gene.

Function

B-cell activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular phenylalanine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. In B cell maturation, due to regulation by BAFF-R, only a limited amount of B-cell will survive.

Clinical significance

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, which are cells that show immune response to normal body cells. Autoreactive B cells are less sensitive toward BAFF and are usually outcompeted by the normal B cells in the maturation process regulated by low BAFF-R expression. An elevated level of BAFF-R can therefore overcome this decreased response and result in accumulation of autoreactive B cells.

BAFF and BAFF-R pair can also down-regulate the cell apoptosis process.

See also

• B-cell activating factor
• B-cell maturation antigen