rs8283

This is a upstream gene variant variant in the ATF6B gene.

▶

GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 0.48
p 4.0e-102
N 5,353
Large GWAS
European

N-glycan measurement

Sharapov S et al. “A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins.” Nature Communications 16(1):5525 (2025)
Allele A
OR 0.02
p 3.0e-21
N 7,540
Large GWAS
multi-ancestry

ubiquitin carboxyl-terminal hydrolase 25 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 0.25
p 4.0e-20
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

complement C4b measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.49
p 2.0e-17
N 997
Small GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
MHC region and risk of systemic lupus erythematosus in African American women
AssociationN=1,145Ruiz-Narvaez EA et al.(2011)· Human Genetics

Case-control study in 380 African-American SLE cases and 765 controls identified four independent SNPs in the MHC region associated with systemic lupus erythematosus. The strongest signal was rs9271366 (OR=1.70, p=5.6×10⁻⁵) near HLA-DRB1, with conditional analysis revealing three additional independent variants: rs204890 (OR=1.86, p=1.2×10⁻⁴) in ATF6B, rs2071349 (OR=1.53, p=1.0×10⁻³) in HLA-DPB1, and rs2844580 (OR=1.43, p=1.3×10⁻³) near HLA-B/MICA. A combined genotype score showed additive risk with OR=1.67 per high-risk allele (p<0.0001).

Traits studied:SLE with abnormal antinuclear antibody titersSLE with arthritisSLE with hematologic disorderSLE with immunologic disorderSLE with renal disorderSLE with serositisSLE with skin manifestationsSystemic lupus erythematosus
PubMedDOIMetascience Observatory

About ATF6B

The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

View all ATF6B 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…