BDH2
gene geneOn this page
Also known as UCPA-ORFLJ13261UNQ6308PRO20933SDR15C1
Summary
BDH2 (3-hydroxybutyrate dehydrogenase 2, HGNC:32389) is a protein-coding gene on chromosome 4q24, encoding Dehydrogenase/reductase SDR family member 6 (Q9BUT1). NAD(H)-dependent dehydrogenase/reductase with a preference for cyclic substrates.
Enables 3-hydroxybutyrate dehydrogenase activity and NAD binding activity. Involved in epithelial cell differentiation and fatty acid beta-oxidation. Located in cytosol.
Source: NCBI Gene 56898 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 55 total
- Druggable target: yes
- MANE Select transcript:
NM_020139
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32389 |
| Approved symbol | BDH2 |
| Name | 3-hydroxybutyrate dehydrogenase 2 |
| Location | 4q24 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1 |
| Ensembl gene | ENSG00000164039 |
| Ensembl biotype | protein_coding |
| Entrez | 56898 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 18 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000296424, ENST00000464039, ENST00000475058, ENST00000492366, ENST00000504285, ENST00000506521, ENST00000509245, ENST00000511354, ENST00000513518, ENST00000878079, ENST00000878080, ENST00000878081, ENST00000878082, ENST00000878083, ENST00000878084, ENST00000878085, ENST00000878086, ENST00000878087, ENST00000878088, ENST00000878089, ENST00000878090, ENST00000878091, ENST00000878092, ENST00000959026
RefSeq mRNA: 1 — MANE Select: NM_020139
NM_020139
CCDS: CCDS3663
Canonical transcript exons
ENST00000296424 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001080720 | 103077592 | 103079755 |
| ENSE00001080724 | 103086480 | 103086540 |
| ENSE00002045522 | 103099783 | 103099834 |
| ENSE00003534369 | 103096183 | 103096274 |
| ENSE00003597825 | 103092600 | 103092696 |
| ENSE00003625985 | 103085349 | 103085462 |
| ENSE00003631930 | 103095203 | 103095281 |
| ENSE00003655056 | 103091177 | 103091285 |
| ENSE00003661563 | 103082871 | 103082929 |
| ENSE00003669505 | 103082081 | 103082173 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 97.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4188 / max 289.5386, expressed in 1753 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 53443 | 19.2870 | 1720 |
| 53444 | 4.1318 | 1385 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 97.83 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.94 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.82 | gold quality |
| gall bladder | UBERON:0002110 | 96.75 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.60 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.37 | gold quality |
| right coronary artery | UBERON:0001625 | 96.28 | gold quality |
| left ovary | UBERON:0002119 | 96.13 | gold quality |
| right ovary | UBERON:0002118 | 96.10 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.10 | gold quality |
| endocervix | UBERON:0000458 | 95.71 | gold quality |
| right uterine tube | UBERON:0001302 | 95.71 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.60 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.35 | gold quality |
| thyroid gland | UBERON:0002046 | 95.26 | gold quality |
| left coronary artery | UBERON:0001626 | 95.20 | gold quality |
| tibial artery | UBERON:0007610 | 95.18 | gold quality |
| popliteal artery | UBERON:0002250 | 95.17 | gold quality |
| body of uterus | UBERON:0009853 | 95.00 | gold quality |
| ascending aorta | UBERON:0001496 | 94.97 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.95 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.81 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.78 | gold quality |
| aorta | UBERON:0000947 | 94.78 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.78 | gold quality |
| left uterine tube | UBERON:0001303 | 94.75 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.66 | gold quality |
| peripheral nervous system | UBERON:0000010 | 94.60 | gold quality |
| nerve | UBERON:0001021 | 94.60 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 46.90 |
| E-HCAD-10 | yes | 29.26 |
| E-ANND-3 | yes | 23.46 |
| E-GEOD-93593 | yes | 13.27 |
| E-MTAB-6524 | no | 135.06 |
| E-CURD-112 | no | 2.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
99 targeting BDH2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
Literature-anchored findings (GeneRIF, showing 11)
- DHRS6 is an orphan short chain dehydrogenase/ reductase enzyme (PMID:16380372)
- Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines. (PMID:21791085)
- Iron-mediated post-transcriptional regulation of hBDH2 controls mitochondrial iron homeostasis in human cells. (PMID:22527885)
- BDH2 expression is an independent poor prognostic factor for CN-AML, with an anti-apoptotic role. Patients with high BDH2 expression have relatively shorter overall survival and a low complete response rate. (PMID:23941109)
- intracellular expression in macrophages is downregulated by stress and inflammation (PMID:25762501)
- High expression level of BDH2 is associated with esophageal squamous cell carcinoma. (PMID:26799587)
- Data demonstrated that the dysregulation of iron homeostasis in CD4(+) T cells induced by BDH2 deficiency contributes to DNA demethylation and self-reactive T cells in SLE. (PMID:29113828)
- LncRNA TP73 antisense RNA 1T (TP73-AS1) positively regulates 3-hydroxybutyrate dehydrogenase type 2 (BDH2) by regulating miR-141. (PMID:30643007)
- BDH2 expression is downregulated in nasopharyngeal carcinoma. Overexpression of BDH2 in nasopharyngeal carcinoma cells decreased the levels of intracellular iron, thereby inhibiting cell proliferation. In addition, overexpression of BDH2 reduced invasion and migration of nasopharyngeal carcinoma cells by reversing epithelial-mesenchymal transition. (PMID:31819181)
- The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome. (PMID:32344823)
- BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer. (PMID:32605589)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bdh2 | ENSDARG00000052696 |
| mus_musculus | Bdh2 | ENSMUSG00000028167 |
| rattus_norvegicus | Bdh2 | ENSRNOG00000014490 |
Protein
Protein identifiers
Dehydrogenase/reductase SDR family member 6 — Q9BUT1 (reviewed: Q9BUT1)
Alternative names: (R)-beta-hydroxybutyrate dehydrogenase, 3-hydroxybutyrate dehydrogenase type 2, 4-oxo-L-proline reductase, Oxidoreductase UCPA, Short chain dehydrogenase/reductase family 15C member 1
All UniProt accessions (5): D6R9U8, D6RBF6, D6RFG2, D6RIR6, Q9BUT1
UniProt curated annotations — full annotation on UniProt →
Function. NAD(H)-dependent dehydrogenase/reductase with a preference for cyclic substrates. Catalyzes stereoselective conversion of 4-oxo-L-proline to cis-4-hydroxy-L-proline, likely a detoxification mechanism for ketoprolines. Mediates the formation of 2,5-dihydroxybenzoate (2,5-DHBA), a siderophore that chelates free cytoplasmic iron and associates with LCN2, thereby regulating iron transport and homeostasis while protecting cells against free radical-induced oxidative stress. The iron-siderophore complex is imported into mitochondria, providing an iron source for mitochondrial metabolic processes in particular heme synthesis. May act as a 3-hydroxybutyrate dehydrogenase.
Subunit / interactions. Homotetramer.
Subcellular location. Cytoplasm.
Tissue specificity. Detected in liver (at protein level).
Induction. Induced by low iron levels, and down-regulated by elevated iron levels.
Pathway. Amino-acid metabolism. Siderophore biosynthesis.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BUT1-1 | 1 | yes |
| Q9BUT1-2 | 2 | |
| Q9BUT1-3 | 3 |
RefSeq proteins (1): NP_064524* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR020904 | Sc_DH/Rdtase_CS | Conserved_site |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR051122 | SDR_DHRS6-like | Family |
Pfam: PF13561
Catalyzed reactions (Rhea), 2 shown:
- cis-4-hydroxy-L-proline + NAD(+) = 4-oxo-L-proline + NADH + H(+) (RHEA:13601)
- (R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH + H(+) (RHEA:20521)
UniProt features (41 total): helix 14, strand 8, binding site 8, sequence conflict 4, splice variant 2, turn 2, chain 1, active site 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2AG5 | X-RAY DIFFRACTION | 1.84 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BUT1-F1 | 97.46 | 1.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 147 (proton acceptor)
Ligand- & substrate-binding residues (8): 16–18; 37; 58; 144; 151; 180–184; 188; 205
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-77111 | Synthesis of Ketone Bodies |
MSigDB gene sets: 134 (showing top):
GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, KOBAYASHI_EGFR_SIGNALING_24HR_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, chr4q24, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_PORPHYRIN_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_PEPTIDE_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, KOYAMA_SEMA3B_TARGETS_UP, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GOBP_NONRIBOSOMAL_PEPTIDE_BIOSYNTHETIC_PROCESS
GO Biological Process (5): fatty acid beta-oxidation (GO:0006635), siderophore biosynthetic process (GO:0019290), epithelial cell differentiation (GO:0030855), heme metabolic process (GO:0042168), lipid metabolic process (GO:0006629)
GO Molecular Function (7): 3-hydroxybutyrate dehydrogenase activity (GO:0003858), 4-oxoproline reductase activity (GO:0016617), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628), NAD binding (GO:0051287), protein binding (GO:0005515), 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase activity (GO:0008667), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Ketone body metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 2 |
| cellular anatomical structure | 2 |
| fatty acid catabolic process | 1 |
| fatty acid ligase activity | 1 |
| fatty acid oxidation | 1 |
| siderophore metabolic process | 1 |
| nonribosomal peptide biosynthetic process | 1 |
| secondary metabolite biosynthetic process | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| porphyrin-containing compound metabolic process | 1 |
| pigment metabolic process | 1 |
| primary metabolic process | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors | 1 |
| adenyl nucleotide binding | 1 |
| binding | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
3625 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BDH2 | BDH1 | Q02338 | 731 |
| BDH2 | ACAA1 | P09110 | 676 |
| BDH2 | OXCT1 | P55809 | 575 |
| BDH2 | HMGCL | P35914 | 540 |
| BDH2 | HMGCS2 | P54868 | 519 |
| BDH2 | SARDH | Q9UL12 | 466 |
| BDH2 | HMGCS1 | Q01581 | 428 |
| BDH2 | SLC22A17 | Q8WUG5 | 420 |
| BDH2 | OXCT2 | Q9BYC2 | 419 |
| BDH2 | CISD2 | Q8N5K1 | 377 |
| BDH2 | ACAT1 | P24752 | 375 |
| BDH2 | TMEM81 | Q6P7N7 | 369 |
| BDH2 | ACADSB | P45954 | 365 |
| BDH2 | OR2M3 | Q8NG83 | 349 |
| BDH2 | UFSP2 | Q9NUQ7 | 342 |
| BDH2 | ACAA2 | P42765 | 342 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DIB1 | BDH2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BDH2 | DIB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NFYC | BDH2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BDH2 | BDH2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| CFTR | BDH2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CITED1 | RAD21 | psi-mi:“MI:0914”(association) | 0.350 |
| PCSK1 | HS6ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| GOLGA7 | TPM2 | psi-mi:“MI:0914”(association) | 0.350 |
| BDH2 | CKS2 | psi-mi:“MI:0914”(association) | 0.350 |
| CYREN | ACOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CITED1 | AURKA | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| NFYC | BDH2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (43): BDH2 (Two-hybrid), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Affinity Capture-MS), BDH2 (Two-hybrid), BDH2 (Two-hybrid), VAT1 (Affinity Capture-MS), TRAPPC2 (Affinity Capture-MS), DSCC1 (Affinity Capture-MS), DHRS4 (Affinity Capture-MS)
ESM2 similar proteins: A0QYC2, B8H1Z0, C1C4R8, D4A1J4, O02691, O18404, O34896, O70351, O86034, P08074, P0A9P9, P15047, P23238, P37769, P39071, P39831, P45200, P50205, P50842, P69935, P69936, Q05528, Q15SS0, Q1JP75, Q29529, Q3KPT7, Q3T046, Q48436, Q561X9, Q7Z4W1, Q83RE8, Q8FHD2, Q8JIS3, Q8JZV9, Q8U8I2, Q8X505, Q91X52, Q91XV4, Q920N9, Q920P0
Diamond homologs: A0A067FT93, A0A165U5V5, A0A1L5BU05, A0A1L5BUG8, A0A2H3D8Y2, A0A3Q8GL18, A0A3Q8GLE8, A0A3Q8GYY4, A0A8F5SIS3, A0A8F5XX49, A0QYC2, A3F5F0, A3LZU7, A7B3K3, C1C4R8, C1DMX5, C8WGQ3, D4A1J4, D4YYG1, D4Z260, F1SWA0, F4J2Z7, F4J300, G5EGA6, H1VN83, H9BFQ0, H9BFQ1, H9BFQ2, H9XP47, K4N0V2, O31680, O80713, O80714, P07914, P07999, P0A2D1, P0A2D2, P0AET8, P0AET9, P0DOV5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1169 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:103082079:A:AC | donor_gain | 1.0000 |
| 4:103082080:C:CC | donor_gain | 1.0000 |
| 4:103082080:CTT:C | donor_gain | 1.0000 |
| 4:103082082:T:TA | donor_gain | 1.0000 |
| 4:103082174:C:CC | acceptor_gain | 1.0000 |
| 4:103082181:C:CT | acceptor_gain | 1.0000 |
| 4:103082181:C:T | acceptor_gain | 1.0000 |
| 4:103082182:A:T | acceptor_gain | 1.0000 |
| 4:103082870:CCT:C | donor_gain | 1.0000 |
| 4:103085345:TCAC:T | donor_loss | 1.0000 |
| 4:103085347:A:C | donor_loss | 1.0000 |
| 4:103085460:CTC:C | acceptor_gain | 1.0000 |
| 4:103085469:G:GC | acceptor_gain | 1.0000 |
| 4:103091149:AT:A | donor_gain | 1.0000 |
| 4:103091175:A:AC | donor_gain | 1.0000 |
| 4:103091176:C:CC | donor_gain | 1.0000 |
| 4:103092633:A:C | donor_gain | 1.0000 |
| 4:103092636:T:TA | donor_gain | 1.0000 |
| 4:103096181:A:AC | donor_gain | 1.0000 |
| 4:103096182:C:CC | donor_gain | 1.0000 |
| 4:103099781:A:AC | donor_gain | 1.0000 |
| 4:103099782:C:CT | donor_gain | 1.0000 |
| 4:103079756:C:CC | acceptor_gain | 0.9900 |
| 4:103082169:CGTGC:C | acceptor_gain | 0.9900 |
| 4:103082170:GTGCC:G | acceptor_loss | 0.9900 |
| 4:103082172:GCCTG:G | acceptor_loss | 0.9900 |
| 4:103082174:CT:C | acceptor_loss | 0.9900 |
| 4:103082175:T:A | acceptor_loss | 0.9900 |
| 4:103082851:A:C | donor_gain | 0.9900 |
| 4:103082868:TACCT:T | donor_loss | 0.9900 |
AlphaMissense
1613 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:103085428:C:A | K151N | 0.997 |
| 4:103085428:C:G | K151N | 0.997 |
| 4:103085442:A:G | Y147H | 0.996 |
| 4:103085359:A:C | C174W | 0.995 |
| 4:103085362:G:C | N173K | 0.995 |
| 4:103085362:G:T | N173K | 0.995 |
| 4:103086508:G:C | N130K | 0.995 |
| 4:103086508:G:T | N130K | 0.995 |
| 4:103091242:A:G | W98R | 0.995 |
| 4:103091242:A:T | W98R | 0.995 |
| 4:103092608:A:C | N80K | 0.995 |
| 4:103092608:A:T | N80K | 0.995 |
| 4:103085367:A:G | C172R | 0.994 |
| 4:103082923:A:T | V180D | 0.993 |
| 4:103085365:G:C | C172W | 0.993 |
| 4:103085411:A:G | L157P | 0.993 |
| 4:103085429:T:G | K151T | 0.993 |
| 4:103086501:A:G | S133P | 0.993 |
| 4:103095250:G:T | A35D | 0.993 |
| 4:103079721:T:A | D240V | 0.992 |
| 4:103096199:C:T | G19D | 0.992 |
| 4:103079722:C:G | D240H | 0.991 |
| 4:103079739:C:T | G234D | 0.991 |
| 4:103085353:G:C | C176W | 0.991 |
| 4:103085423:G:T | A153D | 0.991 |
| 4:103085424:C:G | A153P | 0.991 |
| 4:103085427:C:G | A152P | 0.991 |
| 4:103091210:G:C | S108R | 0.991 |
| 4:103091210:G:T | S108R | 0.991 |
| 4:103091212:T:G | S108R | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000034948 (4:103100349 C>G), RS1000039782 (4:103084209 T>G), RS1000091951 (4:103084635 C>T), RS1000131327 (4:103092696 C>A,G,T), RS1000324638 (4:103098807 T>A,C,G), RS1000711927 (4:103097516 G>A), RS1000904780 (4:103078296 G>A), RS1001137854 (4:103090881 AC>A), RS1001478167 (4:103099337 C>G), RS1001528811 (4:103099699 G>A), RS1001788340 (4:103097680 G>A), RS1001833652 (4:103092192 C>T), RS1001839192 (4:103097972 A>G), RS1001961119 (4:103077463 G>T), RS1002039162 (4:103092148 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004946_70 | Schizophrenia | 3.000000e-08 |
| GCST007269_39 | Pulse pressure | 6.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5169190 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 5 |
| bisphenol A | affects expression, increases expression, affects cotreatment | 3 |
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Nickel | decreases expression | 2 |
| Tretinoin | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| fluorotelomer sulfonic acids | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| chlortoluron | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| perfluorodecanoic acid | increases expression | 1 |
| perfluorooctanesulfonamide | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-heptanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| perfluorododecanoic acid | decreases expression | 1 |
| perfluorobutanesulfonic acid | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5218068 | Binding | Binding affinity to recombinant human BDH2 assessed as shift in melting temperature by SYPRO orange dye based differential scanning fluorimetry assay | Orally Bioavailable Quinoxaline Inhibitors of 15-Prostaglandin Dehydrogenase (15-PGDH) Promote Tissue Repair and Regeneration. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.