HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 266

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
FCG2A/B cis Discovery rs34436026 1:161,519,440 C/T 0.02 996 1.158 0.143 1.5×10-15 2.110 8.9×10-17 2.3×10-18

 

Regional association plots

Low affinity immunoglobulin gamma Fc region receptor II-a/b (FCG2A/B)

 

Boxplots and histograms for top associations

Low affinity immunoglobulin gamma Fc region receptor II-a/b (FCG2A/B)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study

Low affinity immunoglobulin gamma Fc region receptor II-a/b (FCG2A/B)

Target (abbrv.) FCG2A/B
Target (full name) Low affinity immunoglobulin gamma Fc region receptor II-a/b
Somalogic ID (Sequence ID) SL017613 (3310-62_1)
Entrez Gene Symbol FCGR2A
UniProt ID P12318P31994
UniProt Comment
  • P12318: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
  • P31994: Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis.
Pathway Interaction Database
  • BCR signaling pathway
  • Fc-epsilon receptor I signaling in mast cells
Reactome
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • T-cell-Independent B-cell Activation

All locus annotations are based on the sentinel SNP (rs34436026) and 3 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
  • RP11-25K21.6
  • HSPA6 heat shock 70kDa protein 6 (HSP70B')
  • RPS23P10 ribosomal protein S23 pseudogene 10
  • FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)

 

Results from other genome-wide association studies

No associations available.