TNFRSF13C Chromosome 22

TNF receptor superfamily member 13C
16 variants 16 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000159958
Associated Conditions (5)
Immunodeficiency
common variable
4
2
TNFRSF13C-related disorder
Key Variants
All Variants (16)
RSID Category Clinical Significance Conditions
RS1000961266 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS150374940 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS151243201 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS369626832 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS371805226 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS372331667 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS373828157 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS544076556 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS547352394 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS61756766 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS755167957 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS767759337 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS77874543 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS779365266 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 4
RS2146589489 Health Risk Likely pathogenic Immunodeficiency, common variable, 4
RS2518791065 Health Risk Pathogenic Immunodeficiency, common variable, 4
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