HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 134

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
NAGK cis Discovery rs6714900 2:71,325,355 A/G 0.33 996 -0.515 0.045 3.8×10-29 -1.110 3.6×10-27 5×10-23
NAGK cis Replication rs11680831 2:71,292,522 A/G 0.50 337 -0.176 0.046 1.6×10-4 -1.040 0.002 0.036


Regional association plots

N-acetyl-D-glucosamine kinase (NAGK)


Boxplots and histograms for top associations

N-acetyl-D-glucosamine kinase (NAGK)

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

N-acetyl-D-glucosamine kinase (NAGK)

Target (abbrv.) NAGK
Target (full name) N-acetyl-D-glucosamine kinase
Somalogic ID (Sequence ID) SL005629 (3894-15_2)
Entrez Gene Symbol NAGK
UniProt ID Q9UJ70
UniProt Comment
  • Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity.
  • N-acetylneuraminate degradation

All locus annotations are based on the sentinel SNP (rs6714900) 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
  • OR7E91P olfactory receptor, family 7, subfamily E, member 91 pseudogene
  • MCEE methylmalonyl CoA epimerase
  • NAGK N-acetylglucosamine kinase
  • OR7E62P olfactory receptor, family 7, subfamily E, member 62 pseudogene


Results from other genome-wide association studies

Trait P Study Source
Gene expression of [probe 3450326 centered at chr2:71209246] in blood 5.3×10-82 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of MPHOSPH10 [probe 2488086] in peripheral blood mononuclear cells 4.6×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of NAGK in normal prepouch ileum 8×10-5 23474282 (PMID) GRASP2 eQTL
Gene expression of NAGK in blood cells in Celiac disease 1.1×10-4 19128478 (PMID) GRASP2 eQTL