HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 176

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SLAF7 cis Discovery rs11578770 1:160,845,636 C/T 0.09 990 -0.734 0.073 7.5×10-23 -1.600 3.3×10-28 8×10-17

 

Regional association plots

 

Boxplots and histograms for top associations

SLAM family member 7 (SLAF7)

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

SLAM family member 7 (SLAF7)

Target (abbrv.) SLAF7
Target (full name) SLAM family member 7
Somalogic ID (Sequence ID) SL016928 (5487-7_3)
Entrez Gene Symbol SLAMF7
UniProt ID Q9NQ25
UniProt Comment
  • Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-mediated pathway (PubMed:11698418). Positively regulates NK cell functions by a mechanism dependent on phosphorylated SH2D1B. Downstream signaling implicates PLCG1, PLCG2 and PI3K (PubMed:16339536). In addition to heterotypic NK cells-target cells interactions also homotypic interactions between NK cells may contribute to activation. However, in the absence of SH2D1B, inhibits NK cell function. Acts also inhibitory in T-cells (By similarity). May play a role in lymphocyte adhesion (PubMed:11802771). In LPS-activated monocytes negatively regulates production of proinflammatory cytokines (PubMed:23695528).
Pathway Studio
  • Natural Killer Cell Activation through ITSM-Containing Receptors

All locus annotations are based on the sentinel SNP (rs11578770) and 4 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
Potentially regulated genes
  • USF1 upstream transcription factor 1
  • ITLN1 intelectin 1 (galactofuranose binding)
  • SLAMF7 SLAM family member 7
  • RP11-312J18.3
  • TOMM40L translocase of outer mitochondrial membrane 40 homolog (yeast)-like
  • PPOX protoporphyrinogen oxidase
  • NIT1 nitrilase 1
  • MPZ
  • MPZ myelin protein zero
  • SLAMF1 signaling lymphocytic activation molecule family member 1
  • ARHGAP30 Rho GTPase activating protein 30
  • RP11-404F10.2
  • FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
  • USP21 ubiquitin specific peptidase 21

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of USF1 in peripheral blood monocytes 6.2×10-8 20502693 (PMID) GRASP2 eQTL
Transmission distortion 5.8×10-5 22377632 (PMID) GRASP2 nonQTL
Maternal transmission distortion 3.1×10-4 22377632 (PMID) GRASP2 nonQTL