MGST3
gene geneOn this page
Also known as GST-III
Summary
MGST3 (microsomal glutathione S-transferase 3, HGNC:7064) is a protein-coding gene on chromosome 1q24.1, encoding Glutathione S-transferase 3, mitochondrial (O14880). Displays both glutathione S-transferase and glutathione peroxidase activities toward oxyeicosanoids, as part of cellular detoxification as well as synthesis of bioactive metabolites.
This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.
Source: NCBI Gene 4259 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 44 total
- Druggable target: yes
- MANE Select transcript:
NM_004528
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7064 |
| Approved symbol | MGST3 |
| Name | microsomal glutathione S-transferase 3 |
| Location | 1q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GST-III |
| Ensembl gene | ENSG00000143198 |
| Ensembl biotype | protein_coding |
| OMIM | 604564 |
| Entrez | 4259 |
Gene structure
Transcript identifiers
Ensembl transcripts: 43 — 35 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000367883, ENST00000367884, ENST00000367885, ENST00000367888, ENST00000367889, ENST00000460632, ENST00000461308, ENST00000461759, ENST00000477450, ENST00000488688, ENST00000494074, ENST00000495447, ENST00000609263, ENST00000627653, ENST00000855187, ENST00000855188, ENST00000855189, ENST00000855190, ENST00000855191, ENST00000855192, ENST00000855193, ENST00000855194, ENST00000855195, ENST00000855196, ENST00000855197, ENST00000855198, ENST00000922014, ENST00000922015, ENST00000922016, ENST00000922017, ENST00000922018, ENST00000922019, ENST00000922020, ENST00000922021, ENST00000922022, ENST00000922023, ENST00000969013, ENST00000969014, ENST00000969015, ENST00000969016, ENST00000969017, ENST00000969018, ENST00000969019
RefSeq mRNA: 1 — MANE Select: NM_004528
NM_004528
CCDS: CCDS1249
Canonical transcript exons
ENST00000367889 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001931710 | 165631234 | 165631293 |
| ENSE00003545335 | 165651978 | 165652035 |
| ENSE00003598372 | 165649841 | 165649964 |
| ENSE00003608858 | 165654279 | 165654351 |
| ENSE00003680235 | 165651014 | 165651087 |
| ENSE00003848969 | 165655368 | 165656136 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 135.1088 / max 1659.4271, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6392 | 133.7429 | 1822 |
| 6391 | 1.3659 | 755 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 99.74 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.67 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.59 | gold quality |
| pons | UBERON:0000988 | 99.58 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.54 | gold quality |
| diaphragm | UBERON:0001103 | 99.51 | gold quality |
| adult organism | UBERON:0007023 | 99.50 | gold quality |
| apex of heart | UBERON:0002098 | 99.46 | gold quality |
| duodenum | UBERON:0002114 | 99.45 | gold quality |
| biceps brachii | UBERON:0001507 | 99.43 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.43 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.38 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.32 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.30 | gold quality |
| jejunum | UBERON:0002115 | 99.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.30 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.29 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.27 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.26 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.26 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.22 | gold quality |
| triceps brachii | UBERON:0001509 | 99.18 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.17 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.16 | gold quality |
| amygdala | UBERON:0001876 | 99.15 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.13 | gold quality |
| body of tongue | UBERON:0011876 | 99.11 | gold quality |
| heart | UBERON:0000948 | 99.07 | gold quality |
| synovial joint | UBERON:0002217 | 99.07 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.07 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 1171.95 |
| E-MTAB-6701 | yes | 133.90 |
| E-CURD-122 | yes | 67.71 |
| E-MTAB-10287 | yes | 45.04 |
| E-GEOD-134144 | yes | 44.45 |
| E-CURD-112 | yes | 43.70 |
| E-HCAD-10 | yes | 38.84 |
| E-HCAD-1 | yes | 33.00 |
| E-MTAB-8410 | yes | 24.65 |
| E-HCAD-11 | yes | 19.18 |
| E-CURD-46 | yes | 11.10 |
| E-HCAD-9 | yes | 7.98 |
| E-CURD-98 | no | 1293.87 |
| E-MTAB-8559 | no | 885.39 |
| E-GEOD-125970 | no | 6.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting MGST3, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-499B-5P | 98.35 | 68.39 | 988 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-6509-5P | 97.39 | 68.27 | 969 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-645 | 97.28 | 66.30 | 486 |
| HSA-MIR-3137 | 97.26 | 66.78 | 761 |
| HSA-MIR-5702 | 96.68 | 68.21 | 958 |
| HSA-MIR-191-5P | 95.88 | 67.82 | 171 |
| HSA-MIR-1238-5P | 94.82 | 67.52 | 493 |
Literature-anchored findings (GeneRIF, showing 1)
- Variants in MGST3 are associated with differences inn hippocampus size in both human brain data sets (ENIGMA MRI) and in the BXD family of mice. MGST3 is also statistically associated to genes linked to neurodegenerative disorders, including Parkinson’s, Huntington’s, and Alzheimer’s diseases. (PMID:25280473)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mgst3a | ENSDARG00000102744 |
| mus_musculus | Mgst3 | ENSMUSG00000026688 |
| rattus_norvegicus | Utp3 | ENSRNOG00000003599 |
| rattus_norvegicus | Mgst3 | ENSRNOG00000004245 |
Paralogs (3): MGST2 (ENSG00000085871), ALOX5AP (ENSG00000132965), LTC4S (ENSG00000213316)
Protein
Protein identifiers
Glutathione S-transferase 3, mitochondrial — O14880 (reviewed: O14880)
Alternative names: Glutathione peroxidase MGST3, LTC4 synthase MGST3
All UniProt accessions (3): O14880, Q5VV87, Q5VV89
UniProt curated annotations — full annotation on UniProt →
Function. Displays both glutathione S-transferase and glutathione peroxidase activities toward oxyeicosanoids, as part of cellular detoxification as well as synthesis of bioactive metabolites. Catalyzes conjugate addition of reduced glutathione to the alpha, beta-unsaturated C=C carbonyl group of eisosanoids such as leukotriene A4 and 15-deoxy-Delta12,14-prostaglandin J2 to form GSH adducts relevant to the inflammatory response. Catalyzes glutathione-dependent reduction of eicosanoid peroxides to yield the corresponding eicosanoid hydroxides.
Subcellular location. Mitochondrion outer membrane.
Tissue specificity. Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. Expressed in mast cells.
Pathway. Lipid metabolism; leukotriene C4 biosynthesis. Lipid metabolism; arachidonate metabolism.
Similarity. Belongs to the MAPEG family.
RefSeq proteins (1): NP_004519* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001129 | Membr-assoc_MAPEG | Family |
| IPR023352 | MAPEG-like_dom_sf | Homologous_superfamily |
| IPR050997 | MAPEG | Family |
Pfam: PF01124
Catalyzed reactions (Rhea), 3 shown:
- leukotriene C4 = leukotriene A4 + glutathione (RHEA:17617)
- (5S)-hydroperoxy-(6E,8Z,11Z,14Z)-eicosatetraenoate + 2 glutathione = (5S)-hydroxy-(6E,8Z,11Z,14Z)-eicosatetraenoate + glutathione disulfide + H2O (RHEA:48620)
- 15-deoxy-Delta(12,14)-prostaglandin J2 + glutathione = 15-deoxy-Delta(12,14)-prostaglandin J2-S-(R)-glutathione (RHEA:75963)
UniProt features (14 total): topological domain 4, transmembrane region 3, sequence variant 2, mutagenesis site 2, lipid moiety-binding region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14880-F1 | 92.78 | 0.88 |
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): 150, 151
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 150 | abolishes s-acylation; when associated with s-151. |
| 151 | abolishes s-acylation; when associated with s-150. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-156590 | Glutathione conjugation |
| R-HSA-5423646 | Aflatoxin activation and detoxification |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-211859 | Biological oxidations |
MSigDB gene sets: 264 (showing top):
MODULE_93, REACTOME_BIOLOGICAL_OXIDATIONS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_LEUKOTRIENE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MODULE_75, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE
GO Biological Process (6): lipid metabolic process (GO:0006629), prostanoid metabolic process (GO:0006692), arachidonate metabolic process (GO:0019369), leukotriene biosynthetic process (GO:0019370), leukotriene metabolic process (GO:0006691), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (8): glutathione transferase activity (GO:0004364), leukotriene-C4 synthase activity (GO:0004464), glutathione peroxidase activity (GO:0004602), identical protein binding (GO:0042802), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), transferase activity (GO:0016740), lyase activity (GO:0016829)
GO Cellular Component (6): nuclear envelope (GO:0005635), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Biological oxidations | 2 |
| Phase II - Conjugation of compounds | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| icosanoid metabolic process | 3 |
| catalytic activity | 3 |
| unsaturated fatty acid metabolic process | 2 |
| endomembrane system | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| primary metabolic process | 1 |
| long-chain fatty acid metabolic process | 1 |
| olefinic compound metabolic process | 1 |
| leukotriene metabolic process | 1 |
| icosanoid biosynthetic process | 1 |
| cellular detoxification | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| carbon-sulfur lyase activity | 1 |
| peroxidase activity | 1 |
| protein binding | 1 |
| binding | 1 |
| nucleus | 1 |
| organelle envelope | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1506 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MGST3 | MGST1 | P10620 | 948 |
| MGST3 | LTC4S | Q16873 | 896 |
| MGST3 | ALOX5AP | P20292 | 848 |
| MGST3 | PTGES | O14684 | 828 |
| MGST3 | GSTM4 | Q03013 | 619 |
| MGST3 | HPGDS | O60760 | 613 |
| MGST3 | GSTM2 | P28161 | 604 |
| MGST3 | OPLAH | O14841 | 567 |
| MGST3 | GSTO1 | P78417 | 529 |
| MGST3 | GSTZ1 | O43708 | 515 |
| MGST3 | MGST2 | Q99735 | 509 |
| MGST3 | GSTP1 | P09211 | 492 |
| MGST3 | LRRC52 | Q8N7C0 | 490 |
| MGST3 | POGK | Q9P215 | 475 |
| MGST3 | GSTA2 | P09210 | 456 |
| MGST3 | CADM3 | Q8N126 | 456 |
IntAct
340 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MGST3 | TFAM | psi-mi:“MI:0915”(physical association) | 0.660 |
| CCNC | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLN | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC7A1 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | AQP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKG7 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BET1 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP1 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRP10 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN2 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRM2 | MGST3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | PLP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | NRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | PAGE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | CACNG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | VAMP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | TMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (316): MGST3 (Two-hybrid), MGST3 (Affinity Capture-RNA), MGST3 (Proximity Label-MS), MGST3 (Proximity Label-MS), MGST3 (Affinity Capture-MS), MGST3 (Affinity Capture-MS), MGST3 (Affinity Capture-MS), MGST3 (Affinity Capture-MS), MGST3 (Affinity Capture-MS), HRAS (Affinity Capture-MS), S100A13 (Affinity Capture-MS), NMT1 (Affinity Capture-MS), GLMN (Affinity Capture-MS), NMT2 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS)
ESM2 similar proteins: A0A2I1C3V3, A0SYQ0, A1L2F6, A2RST1, A4DA06, A6XA80, A8X8R3, J7FIJ6, O14684, O14880, O74507, O94511, P08011, P0DN89, P10620, P64515, P64516, P70245, P73795, P79382, Q15125, Q16873, Q17428, Q28GF8, Q296J9, Q2KJG4, Q2NKS0, Q3T100, Q41745, Q54GA9, Q57ZC7, Q5R9A6, Q60490, Q60860, Q64L89, Q6GNM0, Q6GPW4, Q6PWL6, Q8HZJ2, Q91VS7
Diamond homologs: A2RST1, A6XA80, O14880, P20291, P20292, P30353, P30354, P30355, P30356, P30357, P30358, P73795, Q148F2, Q16873, Q2KJG4, Q2NKS0, Q2PG08, Q3T100, Q60860, Q925U2, Q99735, Q9CPU4, Q54GA9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
969 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:165649839:A:AG | acceptor_gain | 1.0000 |
| 1:165649840:G:GA | acceptor_gain | 1.0000 |
| 1:165649840:GAC:G | acceptor_gain | 1.0000 |
| 1:165649963:AGGTA:A | donor_loss | 1.0000 |
| 1:165649964:GGTA:G | donor_loss | 1.0000 |
| 1:165649965:GT:G | donor_loss | 1.0000 |
| 1:165649966:T:A | donor_loss | 1.0000 |
| 1:165651012:A:AG | acceptor_gain | 1.0000 |
| 1:165651013:G:GG | acceptor_gain | 1.0000 |
| 1:165649835:CCACA:C | acceptor_loss | 0.9900 |
| 1:165649836:CACA:C | acceptor_loss | 0.9900 |
| 1:165649837:ACAG:A | acceptor_loss | 0.9900 |
| 1:165649838:CAGAC:C | acceptor_loss | 0.9900 |
| 1:165649839:A:C | acceptor_loss | 0.9900 |
| 1:165649840:G:A | acceptor_loss | 0.9900 |
| 1:165649961:GGAG:G | donor_gain | 0.9900 |
| 1:165649962:GAG:G | donor_gain | 0.9900 |
| 1:165649962:GAGG:G | donor_gain | 0.9900 |
| 1:165649965:G:GG | donor_gain | 0.9900 |
| 1:165651013:GT:G | acceptor_gain | 0.9900 |
| 1:165651088:G:GG | donor_gain | 0.9900 |
| 1:165653847:C:G | donor_gain | 0.9900 |
| 1:165654277:A:AG | acceptor_gain | 0.9900 |
| 1:165654278:G:GG | acceptor_gain | 0.9900 |
| 1:165654278:GC:G | acceptor_gain | 0.9900 |
| 1:165655366:A:AG | acceptor_gain | 0.9900 |
| 1:165655367:G:GA | acceptor_gain | 0.9900 |
| 1:165649839:AGAC:A | acceptor_gain | 0.9800 |
| 1:165649840:GA:G | acceptor_gain | 0.9800 |
| 1:165649840:GACG:G | acceptor_gain | 0.9800 |
AlphaMissense
972 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:165649899:A:C | S18R | 0.998 |
| 1:165649901:C:A | S18R | 0.998 |
| 1:165649901:C:G | S18R | 0.998 |
| 1:165649944:C:A | R33S | 0.993 |
| 1:165651056:T:C | F54L | 0.992 |
| 1:165651058:C:A | F54L | 0.992 |
| 1:165651058:C:G | F54L | 0.992 |
| 1:165651072:G:C | R59P | 0.990 |
| 1:165654319:G:C | R97P | 0.990 |
| 1:165651081:A:C | Q62P | 0.989 |
| 1:165649945:G:C | R33P | 0.988 |
| 1:165651057:T:C | F54S | 0.987 |
| 1:165651070:G:C | Q58H | 0.987 |
| 1:165651070:G:T | Q58H | 0.987 |
| 1:165649891:G:A | G15D | 0.986 |
| 1:165651061:C:A | N55K | 0.986 |
| 1:165651061:C:G | N55K | 0.986 |
| 1:165654297:G:C | G90R | 0.985 |
| 1:165649890:G:C | G15R | 0.984 |
| 1:165651017:C:T | P41S | 0.984 |
| 1:165651064:C:G | C56W | 0.983 |
| 1:165651018:C:A | P41H | 0.982 |
| 1:165654298:G:A | G90D | 0.982 |
| 1:165654306:T:A | W93R | 0.982 |
| 1:165654306:T:C | W93R | 0.982 |
| 1:165649941:G:C | A32P | 0.981 |
| 1:165651983:A:T | E66V | 0.981 |
| 1:165651984:A:C | E66D | 0.981 |
| 1:165651984:A:T | E66D | 0.981 |
| 1:165651057:T:G | F54C | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000006321 (1:165643683 T>G), RS1000032957 (1:165655466 A>G), RS1000059631 (1:165649270 T>C), RS1000091665 (1:165649042 A>C), RS1000105771 (1:165637083 A>G), RS1000195684 (1:165631732 T>A), RS1000385728 (1:165655113 C>T), RS1000734590 (1:165637732 C>T), RS1000785325 (1:165638046 G>A), RS1000794423 (1:165656441 T>C), RS1001034801 (1:165644701 T>A), RS1001070906 (1:165643574 A>T), RS1001147760 (1:165650302 G>T), RS1001183416 (1:165642996 A>G), RS1001402201 (1:165643472 A>G)
Disease associations
OMIM: gene MIM:604564 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): pulmonary disease, chronic obstructive, susceptibility to (MONDO:0100167)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000898_1 | Total ventricular volume | 7.000000e-06 |
| GCST009391_233 | Metabolite levels | 4.000000e-06 |
| GCST009391_988 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010493 | glycodeoxycholate measurement |
| EFO:0010475 | deoxycholate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743186 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 6 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| bisphenol A | affects expression, increases expression | 2 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| bismuth tripotassium dicitrate | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| W 7 | decreases reaction, increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| dinophysistoxin 1 | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | affects expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Troglitazone | increases expression | 1 |
| Artesunate | affects response to substance | 1 |
| Leflunomide | decreases expression | 1 |
| Aerosols | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Chelating Agents | affects binding, increases expression | 1 |
| Copper | increases expression, affects binding | 1 |
ChEMBL screening assays
10 unique, capped per target: 9 binding, 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1743241 | ADMET | Substrates for human microsomal glutathione transferase MGST3 | Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition |
| CHEMBL4341385 | Binding | Binding affinity to MGST3 in human A549 cells lysates grown on SILAC media at 10 uM incubated for 1 hr by LC-MS/MS analysis | Profiling withanolide A for therapeutic targets in neurodegenerative diseases. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): pulmonary disease, chronic obstructive, susceptibility to