HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BDH2
3-hydroxybutyrate dehydrogenase 2
Chromosome 4 · 4q24
NCBI Gene: 56898Ensembl: ENSG00000164039.16HGNC: HGNC:32389UniProt: Q9BUT1
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmcytosolextracellular exosomeneurodegenerative diseaseTesticular Germ Cell Tumortesticular carcinomaAbnormality of the skeletal system
✦AI Summary

BDH2 (3-hydroxybutyrate dehydrogenase 2) is a NAD(H)-dependent oxidoreductase with dual roles in iron metabolism and cancer suppression. Biochemically, BDH2 catalyzes stereoselective conversion of 4-oxo-L-proline to cis-4-hydroxy-L-proline and synthesizes 2,5-dihydroxybenzoate (2,5-DHBA), a siderophore that chelates cytoplasmic iron and facilitates its mitochondrial import for heme synthesis and bioenergetics 1. BDH2 localizes at mitochondria-lysosome contacts to mediate inter-organelle iron redistribution, supporting mitochondrial function and lysosomal pH regulation 2. In cancer biology, BDH2 functions as a tumor suppressor across multiple malignancies. BDH2 overexpression triggers ROS-induced apoptosis and autophagy in gastric cancer by promoting Nrf2 ubiquitination and degradation, thereby inhibiting the PI3K/Akt/mTOR pathway 3. Similar mechanisms apply in lung adenocarcinoma 4 and leukemia 5. In colorectal cancer, BDH2 increases 5-FU chemosensitivity by promoting GLIPR1 promoter methylation 6. Low BDH2 expression correlates with poor survival and higher leukemia transformation risk in myelodysplastic syndrome patients 7. Beyond cancer, iron-dependent BDH2 activity regulates pathogenic T cell differentiation in lupus through the miR-21/BDH2/TET axis 8, while inflammation and ER stress downregulate BDH2 in macrophages, dysregulating iron homeostasis 9.

Sources cited
1
Biochemically, BDH2 catalyzes stereoselective conversion of 4-oxo-L-proline to cis-4-hydroxy-L-proline and synthesizes 2,5-dihydroxybenzoate (2,5-DHBA), a siderophore that chelates cytoplasmic iron and facilitates its mitochondrial import for heme synthesis and bioenergetics .
PMID: 35150746
2
BDH2 localizes at mitochondria-lysosome contacts to mediate inter-organelle iron redistribution, supporting mitochondrial function and lysosomal pH regulation .
PMID: 40957995
3
BDH2 overexpression triggers ROS-induced apoptosis and autophagy in gastric cancer by promoting Nrf2 ubiquitination and degradation, thereby inhibiting the PI3K/Akt/mTOR pathway .
PMID: 32605589
4
Similar mechanisms apply in lung adenocarcinoma and leukemia .
PMID: 35416174
5
Similar mechanisms apply in lung adenocarcinoma and leukemia .
PMID: 35164665
6
In colorectal cancer, BDH2 increases 5-FU chemosensitivity by promoting GLIPR1 promoter methylation .
PMID: 40659127
7
Low BDH2 expression correlates with poor survival and higher leukemia transformation risk in myelodysplastic syndrome patients .
PMID: 32344823
8
Beyond cancer, iron-dependent BDH2 activity regulates pathogenic T cell differentiation in lupus through the miR-21/BDH2/TET axis , while inflammation and ER stress downregulate BDH2 in macrophages, dysregulating iron homeostasis .
PMID: 35499082
9
Beyond cancer, iron-dependent BDH2 activity regulates pathogenic T cell differentiation in lupus through the miR-21/BDH2/TET axis , while inflammation and ER stress downregulate BDH2 in macrophages, dysregulating iron homeostasis .
PMID: 25762501
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Testicular Germ Cell TumorOpen Targets
0.27Weak
testicular carcinomaOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
melanomaOpen Targets
0.05Suggestive
frozen shoulderOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
testicular diseaseOpen Targets
0.04Suggestive
diabetic polyneuropathyOpen Targets
0.04Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
cardiomyopathyOpen Targets
0.03Suggestive
temporomandibular joint disorderOpen Targets
0.03Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BDH1Protein interaction96%HMGCLProtein interaction96%OXCT1Protein interaction96%HMGCLL1Protein interaction96%OXCT2Protein interaction96%AACSProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
74%
Heart
50%
Lung
32%
Bone Marrow
24%
Brain
20%
Gene Interaction Network
Click a node to explore
BDH2BDH1HMGCLOXCT1HMGCLL1OXCT2AACS
PROTEIN STRUCTURE
Preparing viewer…
PDB2AG5 · 1.84 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.62–1.25]
RankingsWhere BDH2 stands among ~20K protein-coding genes
  • #10,739of 20,598
    Most Researched36
  • #13,215of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedBDH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer.
PMID: 32605589
J Exp Clin Cancer Res · 2020
1.00
2
BDH2-driven lysosome-to-mitochondria iron transfer shapes ferroptosis vulnerability of the melanoma cell states.
PMID: 40957995
Nat Metab · 2025
0.90
3
The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome.
PMID: 32344823
Int J Mol Sci · 2020
0.80
4
Iron-dependent epigenetic modulation promotes pathogenic T cell differentiation in lupus.
PMID: 35499082
J Clin Invest · 2022
0.70
5
BDH2 promotes GLIPR1 promoter methylation and thus increases 5-FU sensitivity in colorectal cancer.
PMID: 40659127
Biochem Pharmacol · 2025
0.60