HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 226

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ENTP5 cis Discovery rs7160336 14:74,572,360 A/G 0.49 995 -0.385 0.044 6×10-18 -1.070 1.7×10-18 2.1×10-17
ENTP5 cis Replication rs4243645 14:74,538,308 G/A 0.38 337 0.495 0.069 4.5×10-12 1.140 3.6×10-12 4.2×10-12

 

Regional association plots

Ectonucleoside triphosphate diphosphohydrolase 5 (ENTP5)

 

Boxplots and histograms for top associations

Ectonucleoside triphosphate diphosphohydrolase 5 (ENTP5)

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

Ectonucleoside triphosphate diphosphohydrolase 5 (ENTP5)

Target (abbrv.) ENTP5
Target (full name) Ectonucleoside triphosphate diphosphohydrolase 5
Somalogic ID (Sequence ID) SL014028 (4437-56_3)
Entrez Gene Symbol ENTPD5
UniProt ID O75356
UniProt Comment
  • Uridine diphosphatase (UDPase) that promotes protein N-glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a key role in the AKT1-PTEN signaling pathway by promoting glycolysis in proliferating cells in response to phosphoinositide 3-kinase (PI3K) signaling.
UniPathway
  • protein glycosylation

All locus annotations are based on the sentinel SNP (rs7160336) and 58 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
  • ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
  • CCDC176 coiled-coil domain containing 176
  • ALDH6A1 aldehyde dehydrogenase 6 family, member A1
  • LIN52 lin-52 DREAM MuvB core complex component
  • RN7SL530P RNA, 7SL, cytoplasmic 530, pseudogene
  • RP5-892G5.2
eQTL genes
  • RP5-1021I20.2
  • COQ6 coenzyme Q6 monooxygenase
  • PTGR2 prostaglandin reductase 2
  • LIN52 lin-52 DREAM MuvB core complex component
  • ALDH6A1 aldehyde dehydrogenase 6 family, member A1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ZADH1 in liver 3.5×10-10 18462017 (PMID) GRASP2 eQTL
Gene expression of PTGR2 in normal prepouch ileum 5×10-7 23474282 (PMID) GRASP2 eQTL
"Gene expression of ALDH6A1 [transcript NM_005589, probe A_23_P128967] in liver" 8×10-6 21637794 (PMID) GRASP2 eQTL
Gene expression of LIN52 in blood 1.8×10-5 21829388 (PMID) GRASP2 eQTL