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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TNFRSF13B
TNF receptor superfamily member 13B
Chromosome 17 Β· 17p11.2
NCBI Gene: 23495Ensembl: ENSG00000240505.9HGNC: HGNC:18153UniProt: O14836
134PubMed Papers
22Diseases
0Drugs
33Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnegative regulation of B cell proliferationB cell homeostasishematopoietic progenitor cell differentiationimmunodeficiency, common variable, 2immunoglobulin A deficiency 2common variable immunodeficiencyimmunodeficiency, common variable, 1
✦AI Summary

TNFRSF13B (TACI) is a TNF receptor superfamily member functioning as a B-cell-specific receptor that binds BAFF (TNFSF13B) and APRIL (TNFSF13) ligands with high affinity 1. It mediates calcineurin-dependent NF-AT activation and NF-ΞΊB/AP-1 signaling pathways, regulating B and T-cell function and humoral immunity. TNFRSF13B mutations are significantly associated with primary antibody deficiencies: biallelic mutations cause hypogammaglobulinemia and common variable immunodeficiency (CVID), while monoallelic variants increase disease risk (relative risk 3.6) and influence clinical presentation including lymphadenopathy, granulomata, and autoimmune complications 21. The C104R variant represents the most common pathogenic mutation 1. Beyond immunodeficiency, TNFRSF13B variants contribute to IgA nephropathy pathogenesis as identified in genome-wide association studies 3. In inflammatory contexts, TNFRSF13B-expressing B cells respond to neutrophil-derived BAFF in hidradenitis suppurativa lesions, supporting B-cell persistence and function 4. Notably, gain-of-function variants at TNFRSF13B increase multiple myeloma risk through amplified B-cell responses, contrasting with loss-of-function immunodeficiency mechanisms 5. TNFRSF13B genetic testing aids diagnosis of antibody deficiencies, though variant interpretation complexity limits immediate clinical management impact 2.

Sources cited
1
TNFRSF13B encodes TACI, a B-cell TNF receptor; biallelic mutations cause hypogammaglobulinemia; monoallelic variants associated with antibody deficiency; C104R is most common variant
PMID: 18981294
2
11% of CVID and 13% of IgAD patients carry TNFRSF13B mutations; biallelic mutations exclusively in CVID; monoallelic mutations associated with lymphadenopathy, granulomata, and autoimmune cytopenias
PMID: 27123465
3
TNFRSF13B identified as genome-wide significant risk locus for IgA nephropathy
PMID: 37337107
4
TNFRSF13B (TACI) is a BAFF receptor on B cells and plasma cells; lesional B-cell persistence supported by neutrophil-derived BAFF signaling
PMID: 36481267
5
Gain-of-function TNFRSF13B variant rs34562254-A increases multiple myeloma risk through elevated BCMA and amplified B-cell responses, contrasting with loss-of-function immunodeficiency
PMID: 39103364
Disease Associationsβ“˜22
immunodeficiency, common variable, 2Open Targets
0.80Strong
immunoglobulin A deficiency 2Open Targets
0.72Strong
common variable immunodeficiencyOpen Targets
0.59Moderate
immunodeficiency, common variable, 1Open Targets
0.56Moderate
multiple myelomaOpen Targets
0.53Moderate
recurrent infections associated with rare immunoglobulin isotypes deficiencyOpen Targets
0.47Moderate
medical procedureOpen Targets
0.45Moderate
monoclonal gammopathyOpen Targets
0.41Moderate
lymphatic system diseaseOpen Targets
0.41Moderate
ParaproteinemiaOpen Targets
0.40Moderate
amino acid metabolism diseaseOpen Targets
0.40Weak
plasma protein metabolism diseaseOpen Targets
0.40Weak
IgAD1Open Targets
0.38Weak
tonsillitisOpen Targets
0.37Weak
peritonsillar abscessOpen Targets
0.37Weak
upper respiratory tract disorderOpen Targets
0.36Weak
immune deficiency, familial variableOpen Targets
0.36Weak
hyper-IgM syndrome type 2Open Targets
0.36Weak
IGA glomerulonephritisOpen Targets
0.32Weak
disorder of pharynxOpen Targets
0.29Weak
Immunodeficiency, common variable, 2UniProt
Immunoglobulin A deficiency 2UniProt
Pathogenic Variants33
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)Pathogenic
Immunodeficiency, common variable, 2|not provided|Immunodeficiency, common variable, 1|Immunoglobulin A deficiency 2|Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2|TNFRSF13B-related disorder|Hyper-IgM syndrome type 2
β˜…β˜…β˜†β˜†2026β†’ Residue 69
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)Pathogenic
Immunodeficiency, common variable, 2|Immunoglobulin A deficiency 2|not provided|Common variable immunodeficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 164
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)Pathogenic
Immunodeficiency, common variable, 2|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 193
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter)Pathogenic
not provided|Immunodeficiency, common variable, 2|not specified|Immunodeficiency, common variable, 1
β˜…β˜…β˜†β˜†2026β†’ Residue 144
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs)Pathogenic
Immunodeficiency, common variable, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 17
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)Pathogenic
Immunodeficiency, common variable, 2|Immunoglobulin A deficiency 2
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_012452.3(TNFRSF13B):c.61+1G>APathogenic
Immunodeficiency, common variable, 2|Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2
β˜…β˜…β˜†β˜†2025
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)Pathogenic
Immunodeficiency, common variable, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 194
NM_012452.3(TNFRSF13B):c.61+1G>TPathogenic
Immunodeficiency, common variable, 2
β˜…β˜…β˜†β˜†2024
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter)Pathogenic
Immunodeficiency, common variable, 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 184
NM_012452.3(TNFRSF13B):c.61+2T>APathogenic
Immunodeficiency, common variable, 2|Common variable immunodeficiency
β˜…β˜†β˜†β˜†2026
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs)Pathogenic
Immunodeficiency, common variable, 2|TNFRSF13B-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 100
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs)Pathogenic
Immunodeficiency, common variable, 2|TNFRSF13B-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 76
NM_012452.3(TNFRSF13B):c.452dup (p.Leu153fs)Pathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 153
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)Pathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 144
NM_012452.3(TNFRSF13B):c.141C>A (p.Cys47Ter)Pathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 47
NM_012452.3(TNFRSF13B):c.62-1G>APathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2025
NM_012452.3(TNFRSF13B):c.493_497dup (p.Leu167fs)Pathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 167
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)Pathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 119
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)Pathogenic
Immunodeficiency, common variable, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 102
View on ClinVar β†—
Related Genes
CAMLGProtein interaction100%TNFProtein interaction99%TNFRSF17Protein interaction98%CD40LGProtein interaction98%TNFSF13Protein interaction98%TNFSF13BProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
72%
Liver
19%
Brain
6%
Ovary
5%
Heart
0%
Gene Interaction Network
Click a node to explore
TNFRSF13BCAMLGTNFTNFRSF17CD40LGTNFSF13TNFSF13B
PROTEIN STRUCTURE
Preparing viewer…
PDB1XU1 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.38 [1.05–1.79]
RankingsWhere TNFRSF13B stands among ~20K protein-coding genes
  • #3,472of 20,598
    Most Researched134 Β· top quartile
  • #1,718of 5,498
    Most Pathogenic Variants33
  • #16,533of 17,882
    Most Constrained (LOEUF)1.79
Genes detectedTNFRSF13B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
PMID: 33726816
Genome Med Β· 2021
1.00
2
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.
PMID: 27123465
J Immunol Res Β· 2016
0.90
3
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
PMID: 37337107
Nat Genet Β· 2023
0.80
4
Neutrophilic granulocyte-derived B-cell activating factor supports B cells in skin lesions in hidradenitis suppurativa.
PMID: 36481267
J Allergy Clin Immunol Β· 2023
0.70
5
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
PMID: 18981294
Blood Β· 2009
0.60