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AIMP2

Chr 7p22.1

aminoacyl tRNA synthetase complex interacting multifunctional protein 2

Aliases:
p38, PRO0992, JTV-1, JTV1
MANE:
ENST00000223029.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • leukodystrophy, hypomyelinating, 17

    0.61
  • hereditary disease

    0.49
  • Neurodevelopmental abnormality

    0.11
  • Parkinson disease

    0.11
  • cancer

    0.10
  • lung carcinoma

    0.10
  • lung cancer

    0.10
  • neoplasm

    0.09
  • nasopharyngeal carcinoma

    0.08
  • acute myeloid leukemia

    0.07

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

Protein function (UniProt)

Aminoacyl tRNA synthase complex-interacting multifunctional protein 2

Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor

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.