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TNFRSF13B TNF receptor superfamily member 13B

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

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Common variable immunodeficiency 2
MedGen: C3150354OMIM: 240500GeneReviews: Not available
See labs
Immunoglobulin A deficiency 2
MedGen: C1836032OMIM: 609529GeneReviews: Not available
See labs

Genomic context

Location:
17p11.2
Sequence:
Chromosome: 17; NC_000017.11 (16939084..16972088, complement)
Total number of exons:
5

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