TNFRSF13B Chromosome 17

TNF receptor superfamily member 13B
46 variants 46 Health Risk

Upload your DNA to see your personal genotypes for variants in TNFRSF13B.

What This Gene Does
The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000240505
Associated Conditions (15)
Immunodeficiency
common variable
2
Inborn genetic diseases
Immunoglobulin A deficiency 2
TNFRSF13B-related disorder
Common variable immunodeficiency
IgAD1
1
Severe SARS-CoV-2 infection
susceptibility to
Immune deficiency
familial variable
Hyper-IgM syndrome type 2
See cases
Key Variants
RS104894649
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS111439115
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS140781824
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS143027621
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS143562358
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS144383122
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS144560464
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS149084717
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS150101848
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS150974807
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS374547688
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
RS72553876
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 2
Health Risk
All Variants (46)
RSID Category Clinical Significance Conditions
RS104894649 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS111439115 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS140781824 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS143027621 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS143562358 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS144383122 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS144560464 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS149084717 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS150101848 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS150974807 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS374547688 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS72553876 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS72553877 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS72553879 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS749017984 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS751216929 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS752897955 Health Risk Conflicting classifications of pathogenicity Immunoglobulin A deficiency 2, Immunodeficiency, common variable
RS753296393 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS764125338 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS768915966 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 2
RS34557412 Health Risk Conflicting classifications of pathogenicity; risk factor Immunoglobulin A deficiency 2, Immunodeficiency, common variable
RS1434385525 Health Risk Likely pathogenic TNFRSF13B-related disorder, TNFRSF13B-related disorder
RS2508206711 Health Risk Likely pathogenic TNFRSF13B-related disorder, TNFRSF13B-related disorder
RS756955033 Health Risk Likely pathogenic Immunodeficiency, common variable, 2
RS104894650 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1179744489 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS121908379 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1265262160 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1286642936 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1286673507 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1293048695 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1303637368 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1383649750 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1406728306 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS144718007 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS2087501902 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS72553878 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS759649059 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS760885614 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS774955611 Health Risk Pathogenic Immunodeficiency, common variable, 2
RS1016142312 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable, 2
RS1555550717 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable, 2
RS72553875 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable, 2
RS72553882 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable, 2
RS72553883 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable, 2
RS72553885 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable, 2
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