rs2071543

This is a protein-altering variant in the PSMB8 gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.37

p 5.0e-81

N 10,708

Large GWAS

European

IGA glomerulonephritis

Kiryluk K et al. “Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.” Nature Genetics 46(11):1187-96 (2014)

Allele G

OR 1.41

p 2.0e-9

N 6,699

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

1 submitter3 publications

Autoinflammatory syndrome; Proteasome-associated autoinflammatory syndrome 1 (PRAAS1); Proteosome-associated autoinflammatory syndrome; not specified

View on ClinVar →

About PSMB8

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]