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WCMC

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

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Locus annotations

Locus 127

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IGF-II receptor cis Discovery rs2297363 6:160,506,462 G/A 0.12 994 0.757 0.063 8.2×10-31 1.130 9.7×10-30 3.8×10-31
IGF-II receptor cis Replication rs1130861 6:160,511,354 G/A 0.27 337 0.653 0.070 1.7×10-18 1.160 1.7×10-17 6×10-19

 

Regional association plots

Cation-independent mannose-6-phosphate receptor (IGF-II receptor)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Cation-independent mannose-6-phosphate receptor (IGF-II receptor)

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

Cation-independent mannose-6-phosphate receptor (IGF-II receptor)

Target (abbrv.) IGF-II receptor
Target (full name) Cation-independent mannose-6-phosphate receptor
Somalogic ID (Sequence ID) SL003679 (3676-15_3)
Entrez Gene Symbol IGF2R
UniProt ID P11717
UniProt Comment
  • Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.
Wiki Pathways
  • Adipocyte TarBase
  • Epithelium TarBase
  • Leukocyte TarBase
  • Lymphocyte TarBase
  • Muscle cell TarBase
Reactome
  • Golgi Associated Vesicle Biogenesis
Pathway Studio
  • Golgi to Endosome Transport
  • Transcytosis

All locus annotations are based on the sentinel SNP (rs2297363) and 8 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of Hs.379914 in CEU-CHB-JPT lymphoblastoid cell lines 2.1×10-13 17873874 (PMID) GRASP2 eQTL
LDL cholesterol 4.5×10-10 24097068 (PMID) Supplemental file
Triglycerides 5.2×10-10 24097068 (PMID) Supplemental file
isobutyrylcarnitine 5.2×10-9 24816252 (PMID) gwas.eu via SNiPA
Gene expression of Hs.379914 in CHB-JPT lymphoblastoid cell lines 4.6×10-8 17873874 (PMID) GRASP2 eQTL
Total cholesterol 3.8×10-5 20686565 (PMID) GRASP2 nonQTL