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B3GNT2

Chr 2p15

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2

Aliases:
B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1
MANE:
ENST00000301998.5

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hydrocephalus

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypothyroidism

    0.43
  • autoimmune disease

    0.38
  • psoriasis

    0.35
  • thyroid gland disorder

    0.35
  • ankylosing spondylitis

    0.33
  • rheumatoid arthritis

    0.32
  • Hashimoto thyroiditis

    0.30
  • Alzheimer disease

    0.30
  • seborrheic dermatitis

    0.28
  • erythematosquamous dermatosis

    0.28

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

Protein function (UniProt)

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2

Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase

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.