MGST2
gene geneOn this page
Also known as MGST-II
Summary
MGST2 (microsomal glutathione S-transferase 2, HGNC:7063) is a protein-coding gene on chromosome 4q31.1, encoding Microsomal glutathione S-transferase 2 (Q99735). Catalyzes several different glutathione-dependent reactions.
The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.
Source: NCBI Gene 4258 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 33 total
- Druggable target: yes
- MANE Select transcript:
NM_002413
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7063 |
| Approved symbol | MGST2 |
| Name | microsomal glutathione S-transferase 2 |
| Location | 4q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGST-II |
| Ensembl gene | ENSG00000085871 |
| Ensembl biotype | protein_coding |
| OMIM | 601733 |
| Entrez | 4258 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000265498, ENST00000502587, ENST00000503816, ENST00000506797, ENST00000515067, ENST00000515137, ENST00000616265, ENST00000899645, ENST00000899646, ENST00000899647, ENST00000899648, ENST00000899649, ENST00000933959, ENST00000971596
RefSeq mRNA: 4 — MANE Select: NM_002413
NM_001204366, NM_001204367, NM_001204368, NM_002413
CCDS: CCDS3749, CCDS56339
Canonical transcript exons
ENST00000265498 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001192223 | 139704016 | 139704243 |
| ENSE00003492491 | 139695197 | 139695267 |
| ENSE00003505860 | 139703455 | 139703536 |
| ENSE00003675009 | 139678543 | 139678642 |
| ENSE00003847049 | 139665819 | 139666077 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0556 / max 250.8759, expressed in 1754 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 49759 | 9.2855 | 1701 |
| 49760 | 5.9816 | 1461 |
| 49766 | 3.2986 | 861 |
| 49761 | 0.8637 | 525 |
| 49765 | 0.7501 | 377 |
| 49764 | 0.3665 | 222 |
| 49762 | 0.1911 | 72 |
| 49763 | 0.1607 | 71 |
| 49767 | 0.1577 | 67 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.46 | gold quality |
| secondary oocyte | CL:0000655 | 98.29 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.27 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.24 | gold quality |
| rectum | UBERON:0001052 | 98.21 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.12 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.83 | gold quality |
| oocyte | CL:0000023 | 97.82 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.71 | gold quality |
| gall bladder | UBERON:0002110 | 97.70 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.61 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.60 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.54 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.44 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.36 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.27 | gold quality |
| apex of heart | UBERON:0002098 | 97.20 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.20 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.12 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.10 | gold quality |
| duodenum | UBERON:0002114 | 97.07 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.03 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.96 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.94 | gold quality |
| liver | UBERON:0002107 | 96.93 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.92 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.90 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.71 | gold quality |
| adrenal gland | UBERON:0002369 | 96.67 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 1290.14 |
| E-HCAD-1 | yes | 218.89 |
| E-MTAB-10287 | yes | 92.89 |
| E-MTAB-6701 | yes | 51.23 |
| E-MTAB-8410 | yes | 46.83 |
| E-GEOD-134144 | yes | 46.79 |
| E-HCAD-11 | yes | 45.18 |
| E-CURD-46 | yes | 27.12 |
| E-ANND-3 | yes | 16.56 |
| E-HCAD-10 | yes | 14.83 |
| E-CURD-112 | yes | 10.79 |
| E-MTAB-9388 | yes | 10.68 |
| E-MTAB-10553 | yes | 6.56 |
| E-GEOD-130148 | yes | 4.82 |
| E-MTAB-6678 | no | 3.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
7 targeting MGST2, 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-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-2276-3P | 98.76 | 67.75 | 1384 |
| HSA-MIR-10526-3P | 97.86 | 64.97 | 1342 |
| HSA-MIR-4724-3P | 97.57 | 67.31 | 785 |
Literature-anchored findings (GeneRIF, showing 4)
- A large Chinese sample of psoriasis did not provide any supporting evidence for MGST2 to be the psoriasis susceptibility gene within the PSORS9 locus. (PMID:16773312)
- characterized the substrate specificity and catalytic properties of purified MGST2 by steady-state and pre-steady-state kinetic experiments (PMID:23409838)
- Trimeric microsomal protein MGST2 displays one third of the sites reactivity. (PMID:26066610)
- Crystal structures of human MGST2 reveal synchronized conformational changes regulating catalysis. (PMID:33741927)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mgst2 | ENSDARG00000071345 |
| mus_musculus | Mgst2 | ENSMUSG00000074604 |
| rattus_norvegicus | Mgst2 | ENSRNOG00000061857 |
Paralogs (3): ALOX5AP (ENSG00000132965), MGST3 (ENSG00000143198), LTC4S (ENSG00000213316)
Protein
Protein identifiers
Microsomal glutathione S-transferase 2 — Q99735 (reviewed: Q99735)
Alternative names: Glutathione peroxidase MGST2, Leukotriene C4 synthase MGST2, Microsomal glutathione S-transferase II
All UniProt accessions (1): Q99735
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes several different glutathione-dependent reactions. Catalyzes the glutathione-dependent reduction of lipid hydroperoxides, such as 5-HPETE. Has glutathione transferase activity, toward xenobiotic electrophiles, such as 1-chloro-2, 4-dinitrobenzene (CDNB). Also catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4 (LTC4). Involved in oxidative DNA damage induced by ER stress and anticancer agents by activating LTC4 biosynthetic machinery in nonimmune cells.
Subunit / interactions. Homotrimer.
Subcellular location. Endoplasmic reticulum membrane. Microsome membrane.
Tissue specificity. Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. Abundantly expressed in human umbilical vein endothelial cells (at protein level).
Activity regulation. Each monomer can bind on GSH molecule but only one subunit is catalytically active.
Induction. Upon ER stress with brefeldin A or with tunicamycin, MGST2 is down-regulated, in several non-haematopoietic cell types, during the early, protective phase of the unfolded protein response (UPR), and up-regulated at the late, death-promoting phase of the unfolded protein response (UPR).
Similarity. Belongs to the MAPEG family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99735-1 | 1 | yes |
| Q99735-2 | 2 |
RefSeq proteins (4): NP_001191295, NP_001191296, NP_001191297, NP_002404* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001129 | Membr-assoc_MAPEG | Family |
| IPR001446 | 5_LipOase_AP | Family |
| IPR018295 | FLAP/GST2/LTC4S_CS | Conserved_site |
| IPR023352 | MAPEG-like_dom_sf | Homologous_superfamily |
| IPR050997 | MAPEG | Family |
Pfam: PF01124
Catalyzed reactions (Rhea), 4 shown:
- RX + glutathione = an S-substituted glutathione + a halide anion + H(+) (RHEA:16437)
- 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)
- 1-chloro-2,4-dinitrobenzene + glutathione = 2,4-dinitrophenyl-S-glutathione + chloride + H(+) (RHEA:51220)
UniProt features (11 total): helix 5, transmembrane region 3, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6SSS | X-RAY DIFFRACTION | 2.5 |
| 6SSU | X-RAY DIFFRACTION | 2.5 |
| 6SSW | X-RAY DIFFRACTION | 3 |
| 6SSR | X-RAY DIFFRACTION | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99735-F1 | 94.54 | 0.87 |
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: 329 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_INFLAMMATORY_RESPONSE, HSIAO_HOUSEKEEPING_GENES, LUCAS_HNF4A_TARGETS_UP, GOBP_LEUKOTRIENE_BIOSYNTHETIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY, GOBP_PEPTIDE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MODULE_75, ONKEN_UVEAL_MELANOMA_UP, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS
GO Biological Process (9): lipid metabolic process (GO:0006629), glutathione biosynthetic process (GO:0006750), leukotriene biosynthetic process (GO:0019370), response to lipopolysaccharide (GO:0032496), obsolete membrane lipid catabolic process (GO:0046466), positive regulation of inflammatory response (GO:0050729), leukotriene metabolic process (GO:0006691), carboxylic acid biosynthetic process (GO:0046394), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (10): glutathione transferase activity (GO:0004364), leukotriene-C4 synthase activity (GO:0004464), glutathione peroxidase activity (GO:0004602), enzyme activator activity (GO:0008047), identical protein binding (GO:0042802), glutathione binding (GO:0043295), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), transferase activity (GO:0016740), lyase activity (GO:0016829)
GO Cellular Component (6): nuclear envelope (GO:0005635), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), intracellular membrane-bounded organelle (GO:0043231)
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 |
|---|---|
| catalytic activity | 4 |
| endomembrane system | 2 |
| primary metabolic process | 1 |
| glutathione metabolic process | 1 |
| nonribosomal peptide biosynthetic process | 1 |
| modified amino acid biosynthetic process | 1 |
| sulfur compound biosynthetic process | 1 |
| leukotriene metabolic process | 1 |
| icosanoid biosynthetic process | 1 |
| response to molecule of bacterial origin | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| inflammatory response | 1 |
| positive regulation of defense response | 1 |
| positive regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| icosanoid metabolic process | 1 |
| carboxylic acid metabolic process | 1 |
| small molecule 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 |
| enzyme regulator activity | 1 |
| molecular function activator activity | 1 |
| protein binding | 1 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| oligopeptide binding | 1 |
| sulfur compound binding | 1 |
| binding | 1 |
| nucleus | 1 |
| organelle envelope | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
636 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MGST2 | MGST1 | P10620 | 968 |
| MGST2 | PTGES | O14684 | 850 |
| MGST2 | HPGDS | O60760 | 740 |
| MGST2 | GSTO1 | P78417 | 591 |
| MGST2 | GPX2 | P18283 | 554 |
| MGST2 | GSTK1 | Q9Y2Q3 | 515 |
| MGST2 | MGST3 | O14880 | 509 |
| MGST2 | GSTO2 | Q9H4Y5 | 499 |
| MGST2 | GSTM4 | Q03013 | 446 |
| MGST2 | GSTP1 | P09211 | 444 |
| MGST2 | GSTM2 | P28161 | 431 |
| MGST2 | GSTA5 | Q7RTV2 | 429 |
| MGST2 | GSTA1 | P08263 | 428 |
| MGST2 | CHAC2 | Q8WUX2 | 397 |
| MGST2 | GSTT2B | P0CG30 | 391 |
IntAct
83 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RELL2 | OXSR1 | psi-mi:“MI:0914”(association) | 0.830 |
| MGST2 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GIMAP5 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX8 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTMP | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L10 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST2 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST2 | TMEM167B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGCB | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTXN3 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNKP | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22A | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAJC30 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLN | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST2 | STX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VAMP3 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | MGST2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST2 | BCL2L10 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (43): CREB3 (Two-hybrid), MGST2 (Reconstituted Complex), MGST2 (Affinity Capture-MS), MGST2 (Affinity Capture-MS), MGST2 (Affinity Capture-MS), MGST2 (Two-hybrid), MGST2 (Two-hybrid), MGST2 (Two-hybrid), ASIC1 (Two-hybrid), C3orf52 (Two-hybrid), SEC22A (Two-hybrid), GJA8 (Two-hybrid), BCL2L2 (Two-hybrid), BCL2L10 (Two-hybrid), CREB3L1 (Two-hybrid)
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
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1728 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:139666073:GCAAA:G | donor_gain | 1.0000 |
| 4:139666078:G:GG | donor_gain | 1.0000 |
| 4:139678643:G:GG | donor_gain | 1.0000 |
| 4:139725833:CTG:C | acceptor_gain | 1.0000 |
| 4:139666076:AA:A | donor_gain | 0.9900 |
| 4:139666091:G:T | donor_gain | 0.9900 |
| 4:139678638:GCACA:G | donor_gain | 0.9900 |
| 4:139679224:G:GT | donor_gain | 0.9900 |
| 4:139685567:G:GT | donor_gain | 0.9900 |
| 4:139703453:A:AG | acceptor_gain | 0.9900 |
| 4:139703454:G:GG | acceptor_gain | 0.9900 |
| 4:139725745:CCTCA:C | donor_loss | 0.9900 |
| 4:139725746:CTCA:C | donor_loss | 0.9900 |
| 4:139725747:T:TA | donor_loss | 0.9900 |
| 4:139725748:CA:C | donor_loss | 0.9900 |
| 4:139725749:A:AA | donor_loss | 0.9900 |
| 4:139725750:C:A | donor_loss | 0.9900 |
| 4:139725832:ACTGC:A | acceptor_gain | 0.9900 |
| 4:139725833:CTGCT:C | acceptor_gain | 0.9900 |
| 4:139725834:TG:T | acceptor_gain | 0.9900 |
| 4:139725836:C:CC | acceptor_gain | 0.9900 |
| 4:139730410:TGTTA:T | donor_loss | 0.9900 |
| 4:139730411:GTTAC:G | donor_loss | 0.9900 |
| 4:139730412:TTACC:T | donor_loss | 0.9900 |
| 4:139730413:TA:T | donor_loss | 0.9900 |
| 4:139730414:A:AG | donor_loss | 0.9900 |
| 4:139730415:C:CT | donor_loss | 0.9900 |
| 4:139666075:AAAG:A | donor_loss | 0.9800 |
| 4:139666076:AAGTA:A | donor_loss | 0.9800 |
| 4:139666077:AGTA:A | donor_loss | 0.9800 |
AlphaMissense
932 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:139695240:T:A | W68R | 0.986 |
| 4:139695240:T:C | W68R | 0.986 |
| 4:139678620:T:C | F46L | 0.985 |
| 4:139678622:T:A | F46L | 0.985 |
| 4:139678622:T:G | F46L | 0.985 |
| 4:139703472:G:C | G83R | 0.983 |
| 4:139703494:G:C | R90P | 0.982 |
| 4:139703505:T:C | F94L | 0.982 |
| 4:139703507:C:A | F94L | 0.982 |
| 4:139703507:C:G | F94L | 0.982 |
| 4:139704035:A:C | S111R | 0.982 |
| 4:139704037:T:A | S111R | 0.982 |
| 4:139704037:T:G | S111R | 0.982 |
| 4:139695203:C:A | N55K | 0.979 |
| 4:139695203:C:G | N55K | 0.979 |
| 4:139703473:G:A | G83D | 0.979 |
| 4:139678636:G:C | R51P | 0.978 |
| 4:139703493:C:A | R90S | 0.973 |
| 4:139695199:A:C | Q54P | 0.968 |
| 4:139703514:T:C | Y97H | 0.968 |
| 4:139678573:G:C | R30T | 0.967 |
| 4:139695225:T:C | F63L | 0.965 |
| 4:139695227:C:A | F63L | 0.965 |
| 4:139695227:C:G | F63L | 0.965 |
| 4:139704068:G:C | G122R | 0.965 |
| 4:139678569:G:C | A29P | 0.964 |
| 4:139695249:G:T | G71W | 0.964 |
| 4:139678574:A:C | R30S | 0.963 |
| 4:139678574:A:T | R30S | 0.963 |
| 4:139678639:C:A | A52E | 0.960 |
dbSNP variants (sampled 300 via entrez): RS1000018558 (4:139695392 T>A,C), RS1000019076 (4:139715245 G>A), RS1000050834 (4:139716498 C>T), RS1000106388 (4:139722771 A>C), RS1000124257 (4:139714837 G>A), RS1000125134 (4:139720676 G>A,C), RS1000142634 (4:139677999 G>A,C), RS1000214299 (4:139739878 T>C), RS1000222 (4:139666831 G>A), RS1000245144 (4:139754888 C>A,T), RS1000258833 (4:139671188 C>T), RS1000269194 (4:139694873 A>C), RS1000306338 (4:139748378 T>C), RS1000306762 (4:139741243 A>C), RS1000320326 (4:139708205 G>A,C,T)
Disease associations
OMIM: gene MIM:601733 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1771 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010478 | fructose-1-phosphate measurement |
| EFO:0010479 | fructose-6-phosphate measurement |
| EFO:0010484 | glucose-1-phosphate measurement |
| EFO:0010485 | glucose-6-phosphate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743185 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
73 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression, increases methylation | 4 |
| Cyclosporine | decreases expression, affects cotreatment | 4 |
| Acetaminophen | decreases expression, affects cotreatment | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| Valproic Acid | increases expression | 3 |
| nefazodone | affects cotreatment, decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Temozolomide | affects response to substance, increases expression | 2 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Cisplatin | affects cotreatment, increases expression, affects expression | 2 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Glycocholic Acid | affects cotreatment, decreases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| bismuth tripotassium dicitrate | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects response to substance, affects expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
| indirubin | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| azaspiracid | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1743240 | ADMET | Substrates for human microsomal glutathione transferase MGST2 | Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition |
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.