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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HAO2
hydroxyacid oxidase 2
Chromosome 1 · 1p12
NCBI Gene: 51179Ensembl: ENSG00000116882.16HGNC: HGNC:4810UniProt: Q9NYQ3
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
(S)-2-hydroxy-acid oxidase activityprotein bindingfatty acid oxidationperoxisomal matrixHematemesisear malformationcolor vision disorderfolding of antihelix
✦AI Summary

HAO2 is a peroxisomal flavin mononucleotide-dependent oxidase that catalyzes the oxidation of medium and long-chain hydroxyacids, such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, to corresponding 2-oxoacids 1. This enzyme plays a critical role in fatty acid alpha-oxidation, utilizing oxygen as the physiological electron acceptor and producing hydrogen peroxide 1. HAO2 demonstrates substrate specificity, remaining inactive on glycolate, glyoxylate, L-lactate, and 2-hydroxybutanoate 1. Clinically, HAO2 functions as a tumor suppressor. Expression is significantly downregulated across multiple cancer types including hepatocellular carcinoma (HCC), where low HAO2 levels correlate with poor survival, increased metastasis, and higher tumor grade 23. In clear cell renal cell carcinoma (ccRCC), HAO2 inhibits malignancy by promoting lipid catabolic processes and suppressing lipid accumulation, with HAO2 included in fatty acid metabolism-related prognostic signatures 45. HAO2 expression is negatively regulated by miR-615-5p in HCC 3. Additionally, HAO2 variants have been associated with salt-sensitive hypertension through renal oxidative stress mechanisms 6, and HAO2 loci show associations with hydroxyurea response in sickle cell disease 7. Reintroduction of HAO2 in tumor cells impairs tumorigenesis, establishing it as a valuable diagnostic, prognostic, and potential therapeutic target.

Sources cited
1
HAO2 catalyzes oxidation of medium and long-chain hydroxyacids to 2-oxoacids, participates in fatty acid alpha-oxidation, uses O2 as physiological electron acceptor producing H2O2, and shows specific substrate selectivity
PMID: 10777549
2
HAO2 is downregulated in HCC across multiple species and models; low levels correlate with poor survival and metastasis; HAO2 reintroduction impairs tumorigenicity
PMID: 26658681
3
HAO2 is underexpressed in HCC tissues and cells; negatively regulated by miR-615-5p; overexpression inhibits proliferation, migration, and invasion; reduces tumorigenicity in vivo
PMID: 35528616
4
Low HAO2 associates with shorter overall and disease-free survival in ccRCC; overexpression promotes lipid catabolic process, eliminates lipid accumulation, and inhibits tumor cell proliferation and migration
PMID: 31127626
5
HAO2 is one of five survival-related fatty acid metabolism genes in ccRCC patients; part of prognostic signature with strong prognostic value
PMID: 36516496
6
Elevated renal HAO2 mediates oxidative stress in GRK4 R65L salt-sensitive hypertension through TPI1 phosphorylation and H3K27ac-driven transcriptional regulation
PMID: 41407053
7
HAO2 loci show association with hydroxyurea response in sickle cell disease patients
PMID: 40268903
8
HAO2 identified as key gene in ccRCC through CRISPR screening and multi-omics integration for prognostic modeling
PMID: 40709174
Disease Associationsⓘ20
HematemesisOpen Targets
0.26Weak
ear malformationOpen Targets
0.25Weak
color vision disorderOpen Targets
0.23Weak
folding of antihelixOpen Targets
0.21Weak
outer ear morphology traitOpen Targets
0.21Weak
gastritisOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.05Suggestive
Acute hepatic failureOpen Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.03Suggestive
chromophobe renal cell carcinomaOpen Targets
0.03Suggestive
kidney oncocytomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
papillary renal cell carcinomaOpen Targets
0.02Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
primary hyperoxaluria type 1Open Targets
0.01Suggestive
primary hyperoxaluriaOpen Targets
0.01Suggestive
nephrolithiasisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HACL1Protein interaction98%AGXT2Protein interaction95%PGPProtein interaction93%GMPSProtein interaction93%CATProtein interaction92%AGXTProtein interaction90%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Brain
0%
Gene Interaction Network
Click a node to explore
HAO2HACL1AGXT2PGPGMPSCATAGXT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NYQ3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.72–1.33]
RankingsWhere HAO2 stands among ~20K protein-coding genes
  • #13,431of 20,598
    Most Researched23
  • #13,958of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedHAO2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The metabolic gene HAO2 is downregulated in hepatocellular carcinoma and predicts metastasis and poor survival.
PMID: 26658681
J Hepatol · 2016
1.00
2
HAO2 inhibits malignancy of clear cell renal cell carcinoma by promoting lipid catabolic process.
PMID: 31127626
J Cell Physiol · 2019
0.90
3
GRK4 R65L causes salt-sensitive hypertension by augmenting renal Hao2-mediated oxidative stress via increasing the phosphorylation of TPI1 and promoting H3K27ac expression.
PMID: 41407053
Free Radic Biol Med · 2026
0.80
4
Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity of Hepatocellular Carcinoma and Is Negatively Regulated by miR-615-5p.
PMID: 35528616
J Immunol Res · 2022
0.70
5
Fatty acid metabolism-related signature predicts survival in patients with clear cell renal carcinoma.
PMID: 36516496
Aging (Albany NY) · 2022
0.60