ADHFE1
gene geneOn this page
Also known as FLJ32430
Summary
ADHFE1 (alcohol dehydrogenase iron containing 1, HGNC:16354) is a protein-coding gene on chromosome 8q13.1, encoding Hydroxyacid-oxoacid transhydrogenase, mitochondrial (Q8IWW8). Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG).
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).
Source: NCBI Gene 137872 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 94 total — 6 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_144650
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16354 |
| Approved symbol | ADHFE1 |
| Name | alcohol dehydrogenase iron containing 1 |
| Location | 8q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32430 |
| Ensembl gene | ENSG00000147576 |
| Ensembl biotype | protein_coding |
| OMIM | 611083 |
| Entrez | 137872 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 13 protein_coding, 9 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000276576, ENST00000396621, ENST00000396623, ENST00000415254, ENST00000419955, ENST00000422166, ENST00000424777, ENST00000426810, ENST00000431959, ENST00000443372, ENST00000449512, ENST00000463261, ENST00000466739, ENST00000466920, ENST00000496501, ENST00000518781, ENST00000862702, ENST00000862703, ENST00000862704, ENST00000862705, ENST00000862706, ENST00000862707, ENST00000862708, ENST00000862709, ENST00000862710, ENST00000950130, ENST00000950131
RefSeq mRNA: 1 — MANE Select: NM_144650
NM_144650
CCDS: CCDS6190
Canonical transcript exons
ENST00000396623 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001692632 | 66468269 | 66468907 |
| ENSE00001750235 | 66432504 | 66432575 |
| ENSE00003468039 | 66444367 | 66444420 |
| ENSE00003521186 | 66457070 | 66457166 |
| ENSE00003549685 | 66447264 | 66447341 |
| ENSE00003575110 | 66451953 | 66452105 |
| ENSE00003610503 | 66448865 | 66448970 |
| ENSE00003616739 | 66460308 | 66460465 |
| ENSE00003633696 | 66442798 | 66442844 |
| ENSE00003637985 | 66454059 | 66454157 |
| ENSE00003644738 | 66456817 | 66456895 |
| ENSE00003649428 | 66440162 | 66440199 |
| ENSE00003674108 | 66445218 | 66445414 |
| ENSE00003832663 | 66444594 | 66444748 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 96.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4330 / max 97.3406, expressed in 1094 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 89185 | 5.3646 | 1091 |
| 89187 | 0.0684 | 34 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 96.97 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.73 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.44 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.59 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.80 | gold quality |
| deltoid | UBERON:0001476 | 94.52 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.48 | gold quality |
| muscle of leg | UBERON:0001383 | 94.45 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.34 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.06 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.06 | gold quality |
| apex of heart | UBERON:0002098 | 93.91 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.82 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 93.76 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.67 | gold quality |
| liver | UBERON:0002107 | 93.60 | gold quality |
| body of stomach | UBERON:0001161 | 93.44 | gold quality |
| left ovary | UBERON:0002119 | 93.22 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.14 | gold quality |
| biceps brachii | UBERON:0001507 | 93.05 | gold quality |
| tibial nerve | UBERON:0001323 | 93.01 | gold quality |
| popliteal artery | UBERON:0002250 | 92.91 | gold quality |
| right ovary | UBERON:0002118 | 92.90 | gold quality |
| tibial artery | UBERON:0007610 | 92.90 | gold quality |
| body of pancreas | UBERON:0001150 | 92.83 | gold quality |
| right uterine tube | UBERON:0001302 | 92.80 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.79 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.48 | gold quality |
| lower esophagus | UBERON:0013473 | 92.40 | gold quality |
| muscle tissue | UBERON:0002385 | 92.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting ADHFE1, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-4696 | 99.48 | 67.48 | 1040 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-4490 | 98.51 | 68.47 | 943 |
| HSA-MIR-4659B-5P | 98.03 | 66.84 | 979 |
| HSA-MIR-4659A-5P | 98.03 | 66.42 | 819 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-450A-2-3P | 97.91 | 67.56 | 1459 |
| HSA-MIR-193B-5P | 97.91 | 65.88 | 837 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-203B-5P | 97.24 | 68.54 | 543 |
| HSA-MIR-6718-5P | 97.24 | 68.15 | 553 |
| HSA-MIR-1224-3P | 97.24 | 65.92 | 851 |
| HSA-MIR-6742-5P | 96.32 | 64.01 | 869 |
Literature-anchored findings (GeneRIF, showing 7)
- cloned and characterized an iron-activated alcohol dehydrogenase gene, Fe-containing alcohol dehydrogenase 1 (ADHFe1) (PMID:12592711)
- show that the ADHFe1 gene is related to bacterial GHB dehydrogenases and has a conserved NAD-binding site (PMID:19013439)
- ADHFE1 has an important role of differentiation in CRC, as well as normal colorectal mucosa and embryonic developmental processes. (PMID:23517143)
- These results demonstrate that the promoter hypermethylation of ADHFE1 is frequently present in CRC and alcohol induces methylation-mediated down expression of ADHFE1 and proliferation of CRC cells. (PMID:24886599)
- data support the hypothesis that ADHFE1 and MYC signaling contribute to D-2HG accumulation in breast tumors and show that D-2HG is an oncogenic metabolite and potential driver of disease progression. (PMID:29202474)
- Genome-wide DNA methylation profiles of low- and high-grade adenoma reveals potential biomarkers for early detection of colorectal carcinoma. (PMID:32317010)
- Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening. (PMID:37270460)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adhfe1 | ENSDARG00000053518 |
| mus_musculus | Adhfe1 | ENSMUSG00000025911 |
| rattus_norvegicus | Adhfe1 | ENSRNOG00000007069 |
| drosophila_melanogaster | T3dh | FBGN0017482 |
| caenorhabditis_elegans | WBGENE00012608 |
Protein
Protein identifiers
Hydroxyacid-oxoacid transhydrogenase, mitochondrial — Q8IWW8 (reviewed: Q8IWW8)
Alternative names: Alcohol dehydrogenase iron-containing protein 1, Fe-containing alcohol dehydrogenase
All UniProt accessions (6): Q8IWW8, B4DFI7, B4DV11, F2Z2N0, F2Z3D8, F2Z3E5
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.
Subcellular location. Mitochondrion.
Tissue specificity. Only expressed in adult liver.
Similarity. Belongs to the iron-containing alcohol dehydrogenase family. Hydroxyacid-oxoacid transhydrogenase subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IWW8-1 | 1 | yes |
| Q8IWW8-2 | 2 | |
| Q8IWW8-3 | 3 | |
| Q8IWW8-4 | 4 |
RefSeq proteins (1): NP_653251* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001670 | ADH_Fe/GldA | Domain |
| IPR039697 | Alcohol_dehydrogenase_Fe | Family |
| IPR042157 | HOT | Family |
| IPR056798 | ADH_Fe_C | Domain |
Pfam: PF00465, PF25137
Enzyme classification (BRENDA):
- EC 1.1.99.24 — hydroxyacid-oxoacid transhydrogenase (BRENDA: 19 organisms, 18 substrates, 5 inhibitors, 17 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 2-OXOGLUTARATE | 0.018–0.085 | 5 |
| 4-HYDROXYBUTYRATE | 0.06–0.3 | 5 |
| D-2-HYDROXYGLUTARATE | 0.42–4.5 | 2 |
| SUCCINIC SEMIALDEHYDE | 0.0046–0.01 | 2 |
| D-2-HYDROXYBUTYRATE | 4.5 | 1 |
| L-3-HYDROXYBUTYRATE | 3 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- (S)-3-hydroxybutanoate + 2-oxoglutarate = (R)-2-hydroxyglutarate + acetoacetate (RHEA:23048)
- 4-hydroxybutanoate + 2-oxoglutarate = (R)-2-hydroxyglutarate + succinate semialdehyde (RHEA:24734)
UniProt features (9 total): splice variant 3, modified residue 2, sequence variant 2, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWW8-F1 | 93.00 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 445, 452
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-880009 | Interconversion of 2-oxoglutarate and 2-hydroxyglutarate |
MSigDB gene sets: 109 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, FOSTER_TOLERANT_MACROPHAGE_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_2_OXOGLUTARATE_METABOLIC_PROCESS, GOBP_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS, chr8q13, GOCC_MITOCHONDRIAL_MATRIX, MARSON_BOUND_BY_E2F4_UNSTIMULATED
GO Biological Process (4): 2-oxoglutarate metabolic process (GO:0006103), ketone body catabolic process (GO:0046952), lipid metabolic process (GO:0006629), obsolete L-glutamate fermentation via 2-hydroxyglutarate (GO:0019552)
GO Molecular Function (4): alcohol dehydrogenase (NAD+) activity (GO:0004022), metal ion binding (GO:0046872), hydroxyacid-oxoacid transhydrogenase activity (GO:0047988), oxidoreductase activity (GO:0016491)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Aerobic respiration and respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| dicarboxylic acid metabolic process | 1 |
| small molecule catabolic process | 1 |
| fatty acid derivative catabolic process | 1 |
| primary metabolic process | 1 |
| alcohol dehydrogenase [NAD(P)+] activity | 1 |
| cation binding | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
1940 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADHFE1 | AVP | P01185 | 828 |
| ADHFE1 | D2HGDH | Q8N465 | 640 |
| ADHFE1 | L2HGDH | Q9H9P8 | 617 |
| ADHFE1 | ALDH6A1 | Q02252 | 544 |
| ADHFE1 | AKR7A2 | O43488 | 519 |
| ADHFE1 | HIBCH | Q6NVY1 | 482 |
| ADHFE1 | ADH7 | P40394 | 452 |
| ADHFE1 | ADH6 | P28332 | 436 |
| ADHFE1 | IDH2 | P48735 | 433 |
| ADHFE1 | ALDH8A1 | Q9H2A2 | 416 |
| ADHFE1 | OXTR | P30559 | 408 |
| ADHFE1 | SFT2D3 | Q587I9 | 402 |
| ADHFE1 | IDH1 | O75874 | 396 |
| ADHFE1 | CNRIP1 | Q96F85 | 392 |
| ADHFE1 | ADH1A | P07327 | 390 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADHFE1 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADHFE1 | GNAQ | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADHFE1 | LIPC | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): ADHFE1 (Proximity Label-MS), GNAQ (Two-hybrid), LIPC (Two-hybrid)
ESM2 similar proteins: A0A098DDI1, A1CP85, A1D244, A6QP15, A8WTJ7, B0XRM8, B2B223, B6JVD0, B6QCA7, B6QWH9, B8M0U4, B8N4Q9, C1FYJ9, C1H8L1, C5DVG6, C5MRT8, D1ZA70, O13702, O62742, P07857, P11915, P14882, P16862, P32020, P53585, P54889, P91938, Q08224, Q08B39, Q0D0F3, Q10174, Q17EN4, Q28XT3, Q2UCP6, Q4QQW3, Q4WS76, Q53062, Q54GJ7, Q5RF11, Q6P371
Diamond homologs: A0A0H2URT2, A0A0H2ZM56, A0A0S1X9S7, A4IP64, A6QP15, A6ZTT5, B1VB76, C5MRT8, F8DVL8, P0A9Q7, P0A9Q8, P0DJA2, P10127, P13604, P33744, P37686, P38945, P41795, P45513, P76553, Q08B39, Q09669, Q17EN4, Q24803, Q28XT3, Q4QQW3, Q53062, Q59477, Q5RF11, Q8IWW8, Q8R0N6, Q9RCG0, Q9W265, Q9XDN0, A8WTJ7, Q54GJ7, Q6P371, Q7Q547, Q9U2M4, E5Y946
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340821 | GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1 | Pathogenic |
| 1527436 | GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319) | Pathogenic |
| 59787 | GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 | Pathogenic |
| 59788 | GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 | Pathogenic |
| 60364 | GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 | Pathogenic |
| 686117 | GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1 | Pathogenic |
SpliceAI
2425 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:66432571:GCAGC:G | donor_gain | 1.0000 |
| 8:66432574:GC:G | donor_gain | 1.0000 |
| 8:66432576:G:GG | donor_gain | 1.0000 |
| 8:66445215:A:AG | acceptor_gain | 1.0000 |
| 8:66445216:A:G | acceptor_gain | 1.0000 |
| 8:66447262:A:G | acceptor_gain | 1.0000 |
| 8:66448971:G:GG | donor_gain | 1.0000 |
| 8:66451951:A:AG | acceptor_gain | 1.0000 |
| 8:66451952:G:GG | acceptor_gain | 1.0000 |
| 8:66451952:GC:G | acceptor_gain | 1.0000 |
| 8:66451952:GCC:G | acceptor_gain | 1.0000 |
| 8:66451952:GCCA:G | acceptor_gain | 1.0000 |
| 8:66451952:GCCAT:G | acceptor_gain | 1.0000 |
| 8:66452090:C:G | donor_gain | 1.0000 |
| 8:66453839:GC:G | donor_gain | 1.0000 |
| 8:66460461:CCCAG:C | donor_loss | 1.0000 |
| 8:66460464:AGGT:A | donor_loss | 1.0000 |
| 8:66460466:G:GA | donor_loss | 1.0000 |
| 8:66460467:T:G | donor_loss | 1.0000 |
| 8:66439430:G:GT | donor_gain | 0.9900 |
| 8:66445213:CCAA:C | acceptor_loss | 0.9900 |
| 8:66445214:CAA:C | acceptor_loss | 0.9900 |
| 8:66445215:AAGC:A | acceptor_loss | 0.9900 |
| 8:66445216:AGC:A | acceptor_loss | 0.9900 |
| 8:66445217:G:GA | acceptor_gain | 0.9900 |
| 8:66445217:GCTTC:G | acceptor_gain | 0.9900 |
| 8:66447263:G:GG | acceptor_gain | 0.9900 |
| 8:66448863:A:AG | acceptor_gain | 0.9900 |
| 8:66448864:G:GG | acceptor_gain | 0.9900 |
| 8:66448968:TTGGT:T | donor_loss | 0.9900 |
AlphaMissense
3016 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:66445309:G:C | A149P | 0.990 |
| 8:66445310:C:A | A149D | 0.989 |
| 8:66445271:C:A | A136D | 0.988 |
| 8:66445274:T:A | V137D | 0.988 |
| 8:66445305:G:C | K147N | 0.988 |
| 8:66445305:G:T | K147N | 0.988 |
| 8:66445302:T:G | C146W | 0.987 |
| 8:66445268:T:A | V135D | 0.985 |
| 8:66447287:A:C | S192R | 0.984 |
| 8:66447289:T:A | S192R | 0.984 |
| 8:66447289:T:G | S192R | 0.984 |
| 8:66445316:T:C | L151P | 0.983 |
| 8:66445300:T:C | C146R | 0.981 |
| 8:66454111:A:C | S314R | 0.981 |
| 8:66454113:T:A | S314R | 0.981 |
| 8:66454113:T:G | S314R | 0.981 |
| 8:66444598:T:C | L68P | 0.980 |
| 8:66445294:G:C | D144H | 0.980 |
| 8:66452053:A:C | S279R | 0.980 |
| 8:66452055:T:A | S279R | 0.980 |
| 8:66452055:T:G | S279R | 0.980 |
| 8:66445277:G:A | G138D | 0.978 |
| 8:66445406:T:C | L181P | 0.977 |
| 8:66445412:C:A | A183E | 0.975 |
| 8:66448895:T:C | L220P | 0.975 |
| 8:66445301:G:A | C146Y | 0.974 |
| 8:66444624:T:C | C77R | 0.973 |
| 8:66445270:G:C | A136P | 0.969 |
| 8:66445277:G:T | G138V | 0.969 |
| 8:66445296:C:A | D144E | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000219802 (8:66431036 T>C,G), RS1000262365 (8:66446325 G>A), RS1000268955 (8:66431222 G>GT), RS1000279096 (8:66446010 A>G), RS1000334392 (8:66443857 T>A), RS1000355968 (8:66432717 C>A,T), RS1000528339 (8:66463544 G>A), RS1000551601 (8:66438147 A>G), RS1000672780 (8:66445175 C>T), RS1000694072 (8:66431461 T>C), RS1000921232 (8:66437734 C>T), RS1000934004 (8:66462843 C>CA), RS1001152573 (8:66451390 A>G), RS1001172769 (8:66440771 G>A), RS1001192543 (8:66455529 C>G,T)
Disease associations
OMIM: gene MIM:611083 | 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 |
|---|---|---|
| GCST008103_169 | Bipolar disorder | 7.000000e-06 |
| GCST008115_21 | Bipolar I disorder | 2.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009963 | bipolar I disorder |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4947 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, decreases expression | 3 |
| Estradiol | affects cotreatment, decreases expression, affects expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression | 3 |
| bisphenol A | increases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Ethanol | affects cotreatment, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Oxygen | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Thapsigargin | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| beta-Naphthoflavone | decreases 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 |
|---|---|---|---|
| CHEMBL645177 | Binding | The compound was tested for the ability to inactivate horse liver alcohol dehydrogenase in the presence of 0.2 mM NAD+K | Inactivation of liver alcohol dehydrogenases and inhibition of ethanol metabolism by ambivalent active-site-directed reagents. — 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.