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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ALDH1A2
aldehyde dehydrogenase 1 family member A2
Chromosome 15 · 15q21.3
NCBI Gene: 8854Ensembl: ENSG00000128918.16HGNC: HGNC:15472UniProt: O94788
72PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
retinal dehydrogenase (NAD+) activityretinoic acid metabolic processnegative regulation of cell population proliferationneural tube developmentdiaphragmatic hernia 4, with cardiovascular defectsosteoarthritis, kneeosteoarthritis, handKnee pain
✦AI Summary

ALDH1A2 is a NAD-dependent aldehyde dehydrogenase that catalyzes oxidation of retinal substrates to retinoic acid (RA), a critical signaling molecule 1. This enzyme is essential for initiating meiosis and controlling transcriptional regulation of developmental genes 2. ALDH1A2 functions primarily in the cytosol and demonstrates substrate specificity, efficiently metabolizing retinal and medium-chain aldehydes while showing minimal activity with other aldehyde substrates 3. Mechanistically, ALDH1A2-mediated RA biosynthesis operates through cooperative pathways. In intestinal epithelial cells, cometabolism with bacterial ALDH1A2 generates elevated RA levels that suppress Th17-mediated colitis via RAR-α signaling 4. In kidney glomerular parietal epithelial cells, ALDH1A2 expression is selectively enriched and dysregulated in various kidney pathologies, suggesting roles in both normal physiology and disease 5. Clinically, ALDH1A2 variants associate with multiple conditions. Common variants (rs7169289) increase newborn kidney volume and umbilical cord RA levels, potentially protective against vitamin A deficiency 6. Hand osteoarthritis associates with ALDH1A2 variants at 15q22 (OR=1.46, P=1.1×10⁻¹¹) 7. ALDH1A2 upregulation appears therapeutically relevant in amyotrophic lateral sclerosis, where apigenin-mediated ALDH1A2 elevation reduces oxidative stress and apoptosis 8. Additionally, ALDH1A2 promoter methylation silencing occurs in bladder cancer, with therapeutic potential through demethylation strategies inducing apoptosis 9.

Sources cited
1
ALDH1A2 catalyzes NAD-dependent oxidation of all-trans-retinal to all-trans-retinoate
PMID: 29240402
2
Retinoate signaling is crucial for initiation of meiosis and transcriptional control of genes
PMID: 33565183
3
Cometabolism of ALDH1A2 with bacterial ALDH generates retinoic acid that suppresses Th17 response in colitis via RAR-α signaling
PMID: 37983567
4
ALDH1A2 is selectively enriched in glomerular parietal epithelial cells and dysregulated in acute and chronic kidney diseases
PMID: 39360029
5
ALDH1A2 rs7169289(G) variant increases newborn kidney volume and serum retinoic acid levels
PMID: 20375987
6
ALDH1A2 variants at 15q22 associate with severe hand osteoarthritis (OR=1.46, P=1.1×10⁻¹¹)
PMID: 24728293
7
ALDH1A2 is expressed in normal and cancer stem cells and may play functional roles in cell differentiation and expansion
PMID: 22206977
8
ALDH1A2 upregulation attenuates ALS pathology by reducing oxidative stress and apoptosis
PMID: 39521994
9
ALDH1A2 is silenced by promoter methylation in bladder cancer, and demethylation reactivates expression and induces apoptosis
PMID: 20450613
Disease Associationsⓘ21
diaphragmatic hernia 4, with cardiovascular defectsOpen Targets
0.70Strong
osteoarthritis, kneeOpen Targets
0.49Moderate
osteoarthritis, handOpen Targets
0.49Moderate
Knee painOpen Targets
0.47Moderate
Barrett's esophagusOpen Targets
0.44Moderate
medical procedureOpen Targets
0.39Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
aortic valve calcificationOpen Targets
0.31Weak
complicationOpen Targets
0.31Weak
trauma complicationOpen Targets
0.31Weak
spinal stenosisOpen Targets
0.31Weak
obstructive sleep apneaOpen Targets
0.30Weak
osteoarthritisOpen Targets
0.30Weak
aortic stenosisOpen Targets
0.30Weak
total knee arthroplastyOpen Targets
0.30Weak
polyarticular arthritisOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.26Weak
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.16Weak
placenta praeviaOpen Targets
0.15Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
Diaphragmatic hernia 4, with cardiovascular defectsUniProt
Pathogenic Variants4
NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys)Pathogenic
Diaphragmatic hernia 4, with cardiovascular defects
☆☆☆☆2022→ Residue 182
NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)Pathogenic
Diaphragmatic hernia 4, with cardiovascular defects
☆☆☆☆2022→ Residue 461
NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr)Pathogenic
Diaphragmatic hernia 4, with cardiovascular defects
☆☆☆☆2022→ Residue 383
NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His)Pathogenic
Diaphragmatic hernia 4, with cardiovascular defects
☆☆☆☆2022→ Residue 347
View on ClinVar ↗
Related Genes
ADH4Protein interaction99%ADH5Protein interaction99%ADH7Protein interaction99%RDH16Protein interaction99%CYP3A7Protein interaction99%CYP2B6Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Ovary
87%
Liver
40%
Lung
32%
Brain
9%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
ALDH1A2ADH4ADH5ADH7RDH16CYP3A7CYP2B6
PROTEIN STRUCTURE
Preparing viewer…
PDB6ALJ · 1.89 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.17Tolerant
Observed/Expected LoF0.42 [0.31–0.58]
RankingsWhere ALDH1A2 stands among ~20K protein-coding genes
  • #6,529of 20,598
    Most Researched72
  • #3,773of 5,498
    Most Pathogenic Variants4
  • #3,889of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedALDH1A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lactobacillus Intestinalis Primes Epithelial Cells to Suppress Colitis-Related Th17 Response by Host-Microbe Retinoic Acid Biosynthesis.
PMID: 37983567
Adv Sci (Weinh) · 2023
1.00
2
Single-cell RNA sequencing data locate ALDH1A2-mediated retinoic acid synthetic pathway to glomerular parietal epithelial cells.
PMID: 39360029
Exp Biol Med (Maywood) · 2024
0.90
3
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
PMID: 24728293
Nat Genet · 2014
0.80
4
ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.
PMID: 39726306
Discov Med · 2024
0.70
5
A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid.
PMID: 20375987
Kidney Int · 2010
0.60