HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 78

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
KI2L4 cis Discovery rs618835 19:55,316,329 A/G 0.36 996 -0.636 0.041 2.3×10-49 -1.150 2.4×10-20 0.701

 

Regional association plots

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

 

Boxplots and histograms for top associations

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

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

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

Target (abbrv.) KI2L4
Target (full name) Killer cell immunoglobulin-like receptor 2DL4
Somalogic ID (Sequence ID) SL012698 (5095-21_3)
Entrez Gene Symbol KIR2DL4
UniProt ID Q99706
UniProt Comment
  • Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.
Reactome
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • Natural Killer Cell Activation through Integrins and non-ITAM-Containing Receptors

All locus annotations are based on the sentinel SNP (rs618835).
However, the sentinel SNP is not contained in SNiPA's database (1000 Genomes Project, phase 3 version 5, European population). Thus, no information about linked genes or further functional annotation is available.

 

Results from other genome-wide association studies

No associations available.