HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Home
Ideogram
Loci
Network view
Proteome annotation
Help
Locus annotations

Locus 446

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ART cis Discovery rs8051517 16:68,428,089 T/C 0.06 996 0.567 0.086 6.9×10-11 1.150 2×10-10 4.1×10-8
ART cis Replication rs74024437 16:68,326,247 G/A 0.07 337 0.264 0.115 0.023 1.100 0.018 0.038

 

Regional association plots

 

Boxplots and histograms for top associations

Agouti-related protein (ART)

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

Agouti-related protein (ART)

Target (abbrv.) ART
Target (full name) Agouti-related protein
Somalogic ID (Sequence ID) SL006924 (2813-11_2)
Entrez Gene Symbol AGRP
UniProt ID O00253
UniProt Comment
  • Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner.
Biomarker applications (based on IPA annotation)
  • unspecified application
Pathway Interaction Database
  • Syndecan-3-mediated signaling events

All locus annotations are based on the sentinel SNP (rs8051517).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)