Skip to content
GenoLensGenoLens

MGAT2

Chr 14q21.3

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Aliases:
GNT-II
MANE:
ENST00000305386.4

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital disorders of glycosylation

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

  • Fetal hydrops

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • MGAT2-congenital disorder of glycosylation

    0.78
  • congenital disorder of glycosylation

    0.37
  • congenital disorder of glycosylation type II

    0.37
  • COVID-19

    0.37
  • Abnormal glycosylation

    0.26
  • Abnormal facial shape

    0.26
  • Global developmental delay

    0.26
  • hereditary disease

    0.19
  • autoimmune disorder of musculoskeletal system

    0.06
  • corneal neovascularization

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.