HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 331

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
FCN2 cis Discovery rs2989736 9:137,797,175 G/A 0.44 995 0.324 0.043 1.3×10-13 1.060 5.6×10-12 5×10-8
FCN2 cis Replication rs2989736 9:137,797,175 G/A 0.49 337 0.234 0.071 0.001 1.040 0.002 0.004

 

Regional association plots

 

Boxplots and histograms for top associations

Ficolin-2 (FCN2)

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

Ficolin-2 (FCN2)

Target (abbrv.) FCN2
Target (full name) Ficolin-2
Somalogic ID (Sequence ID) SL006542 (3313-21_2)
Entrez Gene Symbol FCN2
UniProt ID Q15485
UniProt Comment
  • May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Enhances phagocytosis of S.typhimurium by neutrophils, suggesting an opsonic effect via the collagen region.
Reactome
  • Ficolins bind to repetitive carbohydrate structures on the target cell surface
  • Initial triggering of complement
  • Lectin pathway of complement activation

All locus annotations are based on the sentinel SNP (rs2989736).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • FCN1 ficolin (collagen/fibrinogen domain containing) 1

 

Results from other genome-wide association studies

No associations available.