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GPT2

Chr 16q11.2

glutamic--pyruvic transaminase 2

Aliases:
ALT2
MANE:
ENST00000340124.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • glutamate pyruvate transaminase 2 deficiency

    0.76
  • neurodegenerative disease

    0.46
  • hereditary disease

    0.45
  • Intellectual disability

    0.27
  • hereditary spastic paraplegia 73

    0.27
  • lupus erythematosus

    0.26
  • Rare genetic intellectual disability

    0.26
  • neurodevelopmental disorder

    0.11
  • Mild intellectual disability

    0.11
  • Delayed speech and language development

    0.11

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

Protein function (UniProt)

Alanine aminotransferase 2

Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate

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.