BDH2
3-Hydroxybutyrate Dehydrogenase 2: A Key Enzyme in Ketone Body Metabolism and Iron Homeostasis
Gene Information Card
| Symbol | BDH2 |
|---|---|
| Full Name | 3-Hydroxybutyrate Dehydrogenase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 56898 ncbi.nlm.nih.gov/gene/56898 |
| Ensembl ID | ENSG00000164124 |
| UniProt ID | Q9BUT1 |
| OMIM ID | 612344 |
| HGNC ID | 24168 |
| Aliases | DHRS6, SDR15C1, MGC11266 |
Description
BDH2 (3-Hydroxybutyrate Dehydrogenase 2) encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the interconversion of 3-hydroxybutyrate and acetoacetate, playing a role in ketone body metabolism. Additionally, BDH2 is involved in iron homeostasis by participating in the synthesis of the siderophore 2,5-dihydroxybenzoic acid (2,5-DHBA), which is critical for mitochondrial iron utilization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Iron deficiency anemia | Impaired 2,5-DHBA synthesis leads to mitochondrial iron accumulation and reduced iron availability for hemoglobin synthesis. | PMID: 21880727 |
| Hepatocellular carcinoma | BDH2 downregulation promotes Warburg effect and tumor growth via altered ketone metabolism. | PMID: 31570795 |
| Breast cancer | BDH2 expression is associated with poor prognosis and metabolic reprogramming. | PMID: 32015548 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.7 | Low |
| Skeletal Muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| MCF7 | 5.4 | Breast cancer cell line |
| K562 | 2.1 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.287C>T | Missense | <0.01% | p.Thr96Ile; reduced enzyme activity |
| c.512G>A | Missense | <0.01% | p.Arg171His; altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1Val and p.Thr96Ile reduce or abolish enzymatic activity, impairing ketone metabolism and iron homeostasis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BDH2.
Dominant Negative (DN)
No dominant-negative mutations have been described for BDH2.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxybutyrate dehydrogenase activity (GO:0003858) | • metabolic process (GO:0008152) |
| • mitochondrion (GO:0005739) | • oxidoreductase activity (GO:0016491) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Ketone body metabolism (Reactome: R-HSA-77108)
• Synthesis of 2
• 5-dihydroxybenzoic acid (siderophore) (Reactome: R-HSA-5663205)
Protein Summary
BDH2 is a 245-amino acid mitochondrial enzyme belonging to the short-chain dehydrogenase/reductase family. It catalyzes the reversible conversion of 3-hydroxybutyrate to acetoacetate, a key step in ketone body utilization. Beyond metabolism, BDH2 is essential for the synthesis of 2,5-dihydroxybenzoic acid, a siderophore that facilitates mitochondrial iron import. Loss of BDH2 function leads to mitochondrial iron overload and cytosolic iron deficiency, linking it to anemia and cancer metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BDH2 Knockout HEK293 Cell Line | EDJ-KQ12528 | Human | 56898 | Details Get a Quote |
| BDH2 Knockout A-549 Cell Line | EDJ-KQ41514 | Human | 56898 | Details Get a Quote |
| BDH2 Knockout HeLa Cell Line | EDJ-KQ41516 | Human | 56898 | Details Get a Quote |
| BDH2 Knockout HCT 116 Cell Line | EDJ-KQ40227 | Human | 56898 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
