Alt. symbols: BAFFR | CD268

Approved name: TNF receptor superfamily member 13C
Alt. names: tumor necrosis factor receptor superfamily, member 13C

Location: 22q13.2: 41922032 - 41926806 (-)
Gene type: protein_coding, 1 transcripts.

Scores: LoFtool: | pLI: 0.64105469 | LOEUF: 1.270

HGNC: 17755

NCBI: 115650, RefSeq: NG_007579.1

Ensembl: ENSG00000159958.7

LRG_184 | Status: public

OMIM: 606269

Expression | ProteinAtlas

This gene encodes the B-cell activating factor receptor (BAFF-R), a type III transmembrane protein containing a single extracellular cysteine-rich domain. BAFF-R is a membrane protein of the TNF receptor superfamily which recognizes BAFF, an essential factor for B cell maturation and survival. In B cell maturation, due to regulation by BAFF-R, only a limited amount of B-cell will survive. B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population.

Biallelic mutations in TNFRSF13C have been shown to cause a form of adult-onset autosomal recessive antibody deficiency: Immunodeficiency, common variable, 4 (CVID4) [MIM:613494]. Increased levels of BAFF in serum have been observed for some SLE patients. 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. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Surface protein phenotyping of patient B cells showed a developmental arrest after the transitional stage and before the cells became mature follicular B cells. In vitro functional expression studies showed that the mutant protein failed to bind BAFF and failed to induce downstream NFKB processing Warnatz et al. (2009). [Load More]