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EEF2

Chr 19p13.3

eukaryotic translation elongation factor 2

Aliases:
EEF-2
MANE:
ENST00000309311.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hydrocephalus

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Ataxia and cerebellar anomalies - narrow panel

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary ataxia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary ataxia with onset in adulthood

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • spinocerebellar ataxia type 26

    0.60
  • primary cutaneous T-cell non-Hodgkin lymphoma

    0.54
  • neoplasm

    0.54
  • hairy cell leukemia

    0.53
  • neurodegenerative disease

    0.49
  • Hydrocephalus

    0.46
  • Parkinson disease

    0.43
  • Alzheimer disease

    0.42
  • acute myeloid leukemia

    0.41
  • multiple sclerosis

    0.41

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

Protein function (UniProt)

Elongation factor 2

Catalyzes the GTP-dependent ribosomal translocation step during translation elongation (PubMed:26593721). During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively (PubMed:26593721). Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome (PubMed:26593721)

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.