TNFSF12 Chromosome 17

TNF superfamily member 12
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
Tumor necrosis factor superfamily
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000239697
Associated Conditions (2)
Common variable immunodeficiency
TNFSF12-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS576689580 Health Risk Conflicting classifications of pathogenicity Common variable immunodeficiency, TNFSF12-related disorder, Common variable immunodeficiency
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