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DALRD3

Chr 3p21.31

DALR anticodon binding domain containing 3

Aliases:
FLJ10496
MANE:
ENST00000341949.9

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
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • developmental and epileptic encephalopathy, 86

    0.44
  • mitochondrial complex I deficiency, nuclear type 18

    0.43
  • mitochondrial complex I deficiency

    0.43
  • neurodegenerative disease

    0.40
  • undetermined early-onset epileptic encephalopathy

    0.37
  • mitochondrial complex I deficiency, nuclear type 1

    0.19
  • hereditary disease

    0.17
  • smoking cessation

    0.05
  • metabolic syndrome

    0.05
  • atrial fibrillation

    0.04

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

Protein function (UniProt)

DALR anticodon-binding domain-containing protein 3

Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-methylcytidine modification by METTL2A and METTL2B

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.