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Gene Gene information from NCBI Gene database.
Entrez ID 56898
Gene name 3-hydroxybutyrate dehydrogenase 2
Gene symbol BDH2
Synonyms (NCBI Gene)
DHRS6EFA6RPRO20933SDR15C1UCPA-ORUNQ6308
Chromosome 4
Chromosome location 4q24
miRNA miRNA information provided by mirtarbase database.
206 Show/Hide all (206)
miRTarBase ID miRNA Experiments Reference
MIRT004219 hsa-miR-346 Microarray 16822819
MIRT019992 hsa-miR-375 Microarray 20215506
MIRT031043 hsa-miR-21-5p Microarray 20048743
MIRT039022 hsa-miR-766-3p CLASH 23622248
MIRT820434 hsa-miR-1182 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0003858 Function 3-hydroxybutyrate dehydrogenase activity IBA
GO:0003858 Function 3-hydroxybutyrate dehydrogenase activity IDA 16380372
GO:0003858 Function 3-hydroxybutyrate dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUT1
Protein name Dehydrogenase/reductase SDR family member 6 (EC 1.1.1.-) ((R)-beta-hydroxybutyrate dehydrogenase) (3-hydroxybutyrate dehydrogenase type 2) (EC 1.1.1.30) (4-oxo-L-proline reductase) (EC 1.1.1.104) (Oxidoreductase UCPA) (Short chain dehydrogenase/reductase
Protein function NAD(H)-dependent dehydrogenase/reductase with a preference for cyclic substrates (By similarity) (PubMed:35150746). Catalyzes stereoselective conversion of 4-oxo-L-proline to cis-4-hydroxy-L-proline, likely a detoxification mechanism for ketopro
PDB 2AG5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13561 adh_short_C2 13 → 244 Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver (at protein level). {ECO:0000269|PubMed:22527885}.
Sequence
Sequence length 245
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Synthesis of Ketone Bodies
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (26)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 36776048 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 16865689
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25468909
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 16270321
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 26799587
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 26799587
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 16865689
★★★★★
★☆☆☆☆
Found in Text Mining only
Iron Overload Iron Overload BEFREE 24777603
★★★★★
★☆☆☆☆
Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia Anemia BEFREE 24777603
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 32344823 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only