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Gene

ALDH1A2

aldehyde dehydrogenase 1 family member A2

Summary

Cytogenetic location
15q21.3
Coordinates
Chromosome 15: 57,953,429–58,065,711 (GRCh38)
Exons
13 exons across 112.3 kb
Protein
518 amino acids
Also known as
RALDH2
MANE Select transcript
ENST00000249750.9NM_003888.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Diaphragmatic Hernia (Monogenic)

    • Congenital Diaphragmatic Hernia

      Incomplete formation of the diaphragm present at birth, which in a minority of families is linked to single genes such as ZFPM2, GATA4, NR2F2, ALDH1A2 or PLS3, often with incomplete penetrance.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is mainly relevant to family planning, as it can inform recurrence risk and the option of prenatal imaging in a future pregnancy.

How ALDH1A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 15, with a bracket where ALDH1A2 sits. ALDH1A2 and 6 genes near it on chromosome 15, from 57,509,570 to 58,509,569.Chromosome 1515q21.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.357.6 Mb57.8 Mb58 Mb58.2 Mb58.4 MbCGNL1: 57,375,967–57,551,742, forward strandCGNL1MYZAP: 57,591,889–57,685,676, forward strandMYZAPGCOM1: 57,591,908–57,714,745, forward strandGCOM1POLR2M: 57,706,641–57,782,762, forward strandPOLR2MALDH1A2: 57,953,429–58,065,711, reverse strandALDH1A2AQP9: 58,138,169–58,185,915, forward strandAQP9LIPC: 58,410,380–58,570,449, forward strandLIPCDiagram of ALDH1A2: 13 exons on the reverse strand of chromosome 15Exon 13: 57,953,429–57,955,269, 1,841 basesExon 12: 57,960,770–57,960,844, 75 basesExon 11: 57,961,137–57,961,294, 158 basesExon 10: 57,962,012–57,962,176, 165 basesExon 9: 57,963,885–57,964,069, 185 basesExon 8: 57,965,725–57,965,827, 103 basesExon 7: 57,992,705–57,992,818, 114 basesExon 6: 57,992,945–57,993,073, 129 basesExon 5: 57,995,078–57,995,139, 62 basesExon 4: 58,010,649–58,010,778, 130 basesExon 3: 58,013,858–58,013,998, 141 basesExon 2: 58,014,177–58,014,281, 105 basesExon 1: 58,065,534–58,065,711, 178 bases1310515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.4 kb of the gene's 112.3 kb; 1,557 of those bases code for the protein.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ALDH1A2 gene: aldehyde dehydrogenase 1 family member A2. Retrieved 17 October 2026, from https://dantelabs.com/genes/aldh1a2

Vancouver

Dante Labs. ALDH1A2 gene: aldehyde dehydrogenase 1 family member A2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aldh1a2

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