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ALDH1A2

Chr 15q21.3

aldehyde dehydrogenase 1 family member A2

Aliases:
RALDH2
MANE:
ENST00000249750.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Familial non syndromic congenital heart disease

  • Monogenic hearing loss

Disease associations (Open Targets)

  • diaphragmatic hernia 4, with cardiovascular defects

    0.70
  • osteoarthritis, hand

    0.47
  • osteoarthritis, knee

    0.47
  • Knee pain

    0.42
  • Barrett esophagus

    0.39
  • alcohol drinking

    0.38
  • medical procedure

    0.36
  • esophageal adenocarcinoma

    0.33
  • stroke disorder

    0.31
  • trauma complication

    0.30

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

Protein function (UniProt)

Retinal dehydrogenase 2

Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:29240402, PubMed:33565183). Retinoate signaling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female (Probable) (PubMed:33565183). Recognizes retinal as substrate, both in its free form and when bound to cellular retinol-binding protein (By similarity). Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal (By similarity). Displays complete lack of activity with citral (By similarity)

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.