HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 434

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CNTN2 cis Discovery rs2246662 1:204,943,947 C/A 0.39 995 0.299 0.045 4.5×10-11 1.090 2.7×10-11 1.6×10-9
CNTN2 cis Replication rs2246662 1:204,943,947 C/A 0.46 337 0.169 0.053 0.001 1.070 0.003 0.132

 

Regional association plots

 

Boxplots and histograms for top associations

Contactin-2 (CNTN2)

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

Contactin-2 (CNTN2)

Target (abbrv.) CNTN2
Target (full name) Contactin-2
Somalogic ID (Sequence ID) SL008623 (3296-92_2)
Entrez Gene Symbol CNTN2
UniProt ID Q02246
UniProt Comment
  • In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.
Reactome
  • L1CAM interactions
  • NCAM1 interactions
  • NrCAM interactions

All locus annotations are based on the sentinel SNP (rs2246662) and 1 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

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CNTN2 (probeID ILMN_1718896) in cerebellum in Alzheimer's disease cases and controls 9.1×10-5 22685416 (PMID) GRASP2 eQTL