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WCMC

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

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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)

Download the association data used to generate this plot

 

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.
UniPathway
  • 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