TNFRSF13B

Chr 17

TNF receptor superfamily member 13B

Also known as: CD267, CVID, CVID2, IGAD2, RYZN, TACI, TNFRSF14B

NCBI Gene: 23495 ENSG00000240505 UniProt: O14836

The TNFRSF13B protein is a lymphocyte-specific receptor that binds APRIL and BAFF ligands to regulate B- and T-cell function and humoral immunity through activation of transcription factors including NF-AT, NF-kappa-B, and AP-1. Mutations cause common variable immunodeficiency and IgA deficiency, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows high tolerance to loss-of-function variants (high LOEUF score), suggesting variable penetrance or that some variants may act through alternative mechanisms.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency, common variable, 2

UniProtImmunoglobulin A deficiency 2

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency, common variable, 2 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.96

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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