Tumor Necrosis Factor Receptor Superfamily, Member 13B

Alternative Names

TNFRSF13B
Transmembrane Activator and CAML Interactor
TACI

Length

33,038 bases

No. of Exons

No. of isoforms

Protein Name

Tumor necrosis factor receptor superfamily member 13B

Molecular Mass

31816 Da

Amino Acid Count

293

Genomic Location

chr17:16,939,081-16,972,118

Gene Map Locus

17p11.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_012452.3:c.515G>A	Saudi Arabia	NC_000017.11:g.16940442C>T	Likely Pathogenic, Uncertain Significance	Likely Pathogenic	Immunodeficiency, Common Variable, 2	NG_007281.1:g.36647G>A; NM_012452.3:c.515G>A; NP_036584.1:p.Cys172Tyr	751216929	449548

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External Links

https://medlineplus.gov/genetics/gene/tnfrsf13b/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF13B

Contributors

Asha Deepthi: 18.12.2024

Edit History

Asha Deepthi: 18.12.2024

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