Gene: POMGNT2

Alternate names for this Gene: AGO61|C3orf39|GTDC2|MDDGA8|MDDGC8

Gene Summary: This gene encodes a protein with glycosyltransferase activity although its function is not currently known.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.1

Description of this Gene: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Type of Gene: protein-coding

rs729654 in POMGNT2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11719573 in POMGNT2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs374042455 in POMGNT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 PMID 27066570 2015 Milder forms of muscular dystrophy associated with POMGNT2 mutations.