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ADAT3

Chr 19p13.3

adenosine deaminase tRNA specific 3

Aliases:
TAD3
MANE:
ENST00000329478.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • intellectual disability-strabismus syndrome

    0.72
  • neurodegenerative disease

    0.48
  • hereditary disease

    0.19
  • microcephaly

    0.11
  • neurodevelopmental disorder

    0.03
  • cancer

    0.03
  • Intellectual disability

    0.02
  • cervical carcinoma

    0.01
  • Neurodevelopmental delay

    0.01
  • Strabismus

    0.01

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

Protein function (UniProt)

tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3

Non-catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. Inosine-34 allows the decoding of 3 different nucleotides at the third position of mRNA codons, as inosine is able to pair with U, C, and A. Required for binding of the ADAT2-ADAT3 complex to tRNA through its N-terminus, which rotates with respect to the catalytic domain of the complex, formed by ADAT2 and the ADAT3 C-terminal domain, to position the tRNA anticodon stem-loop correctly in the ADAT2 active site. The ADAT2-ADAT3 complex is required for radial migration of projection neurons in the developing brain cortex, and the catalytic activity of the complex is necessary for this function

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.