TNFRSF13C Chromosome 22
TNF receptor superfamily member 13C
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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
RS1000961266
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS150374940
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS151243201
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS369626832
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS371805226
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS372331667
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS373828157
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS544076556
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS547352394
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS61756766
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS755167957
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
RS767759337
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 4
Health Risk
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 |