rs9513584
This is a intron variant variant in the UBAC2 gene.
▶Research that mentions this SNP (1)
▶A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's diseaseAssociationN=1,772Amr H. Sawalha et al.(2011)· Arthritis & Rheumatism
A genetic association study in 676 Behçet's disease patients and 1,096 controls identified and replicated SNP variants within the UBAC2 gene (meta-analysis OR=1.84, P=1.69×10⁻⁷). The functional variant rs7999348 (A/G) was identified as the primary disease-risk SNP and shown to tag increased mRNA expression of UBAC2 transcript variant 1 in individuals carrying the disease-associated G allele, suggesting ubiquitination pathway involvement in disease pathogenesis.
About UBAC2
Predicted to enable serine-type endopeptidase activity. Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
View all UBAC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…