GSTA3
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Summary
GSTA3 (glutathione S-transferase alpha 3, HGNC:4628) is a protein-coding gene on chromosome 6p12.2, encoding Glutathione S-transferase A3 (Q16772). Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined.
Source: NCBI Gene 2940 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 36 total
- Druggable target: yes
- MANE Select transcript:
NM_000847
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4628 |
| Approved symbol | GSTA3 |
| Name | glutathione S-transferase alpha 3 |
| Location | 6p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000174156 |
| Ensembl biotype | protein_coding |
| OMIM | 605449 |
| Entrez | 2940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000211122, ENST00000370968, ENST00000431899, ENST00000961739, ENST00000961740
RefSeq mRNA: 2 — MANE Select: NM_000847
NM_000847, NM_001363542
CCDS: CCDS4947, CCDS87412
Canonical transcript exons
ENST00000211122 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001137820 | 52909641 | 52909698 |
| ENSE00003461247 | 52897825 | 52897956 |
| ENSE00003485373 | 52903676 | 52903727 |
| ENSE00003503238 | 52896646 | 52896928 |
| ENSE00003522693 | 52902346 | 52902478 |
| ENSE00003524439 | 52899934 | 52900075 |
| ENSE00003672049 | 52905748 | 52905855 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 96.61.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1595 / max 52.6764, expressed in 36 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73976 | 0.1595 | 36 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 96.61 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.59 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.10 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.99 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 94.73 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.54 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.77 | gold quality |
| bronchus | UBERON:0002185 | 93.66 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.44 | gold quality |
| adrenal gland | UBERON:0002369 | 92.18 | gold quality |
| placenta | UBERON:0001987 | 87.13 | gold quality |
| nephron tubule | UBERON:0001231 | 86.68 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.87 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.42 | gold quality |
| nasopharynx | UBERON:0001728 | 85.41 | gold quality |
| kidney epithelium | UBERON:0004819 | 84.83 | silver quality |
| skin of abdomen | UBERON:0001416 | 84.77 | gold quality |
| jejunal mucosa | UBERON:0000399 | 83.38 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 82.94 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 82.42 | silver quality |
| renal glomerulus | UBERON:0000074 | 82.18 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 81.96 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 81.65 | gold quality |
| zone of skin | UBERON:0000014 | 81.49 | gold quality |
| upper leg skin | UBERON:0004262 | 81.49 | gold quality |
| skin of leg | UBERON:0001511 | 80.75 | gold quality |
| hair follicle | UBERON:0002073 | 78.32 | silver quality |
| skin of hip | UBERON:0001554 | 77.37 | gold quality |
| fallopian tube | UBERON:0003889 | 77.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.07 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFE2L2
miRNA regulators (miRDB)
9 targeting GSTA3, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-4684-3P | 98.24 | 69.91 | 1075 |
Literature-anchored findings (GeneRIF, showing 10)
- describe an I71L polymorphism in GSTA3 that occurs at a low frequency in African populations (PMID:15454730)
- Analysis of the active centers of hGSTA3-3 reveals that residues in positions 12 and 208 may contribute to its disparate isomerase activity toward Delta(5)-AD. (PMID:15595823)
- Significantly contributes to the double-bond isomerization necessary for steroid hormone biosynthesis in complex systems, thereby complementing the indispensable 3beta-hydroxysteroid oxidoreductase activity of 3beta-hydroxysteroid dehydrogenase. (PMID:18426392)
- The 3D structures of human GSTs A2-2 and A3-3 in complex with Delta(4)-androstene-3-17-dione, were solved. (PMID:20083122)
- Data indicate that steroidogenic factor 1 (SF-1) and glutathione S-transferase A (GSTA) family genes (hGSTA1-hGSTA4) are involved in steroidogenesis. (PMID:23650189)
- Density functional theory calculations used to propose a refined mechanism for the isomerization of delta(5)-androstene-3,17-dione catalyzed by GST A3-3 (PMID:24739064)
- analysis of how isomerization of the steroid Delta(5)-androstene-3,17-dione by the glutathione transferase A3-3 (PMID:25248748)
- GSTA3 expression is significantly downregulated in human masticatory mucosa during wound healing (PMID:28005267)
- Certain core genes, including COL12A1, glutathione Stransferase alpha3 (GSTA3), fibrinogen alpha chain (FGA) and fibrinogen gamma chain (FGG), were the first reported to be associated with Gastric Cancer. Survival analysis suggested that these four genes, COL12A1 (P=0.002), GSTA3 (P=3.4x106), FGA (P=0.00075) and FGG (P=1.4x105), were significant poor prognostic factors of gastric cancer. (PMID:30106150)
- Inhibitory effect of glutathione S-transferase A3 in the progression of cutaneous squamous cell carcinoma. (PMID:33089654)
Cross-species orthologs
41 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gstp1.1 | ENSDARG00000103019 |
| caenorhabditis_elegans | WBGENE00001749 | |
| caenorhabditis_elegans | WBGENE00001750 | |
| caenorhabditis_elegans | WBGENE00001751 | |
| caenorhabditis_elegans | WBGENE00001752 | |
| caenorhabditis_elegans | WBGENE00001753 | |
| caenorhabditis_elegans | WBGENE00001754 | |
| caenorhabditis_elegans | WBGENE00001755 | |
| caenorhabditis_elegans | WBGENE00001756 | |
| caenorhabditis_elegans | WBGENE00001757 | |
| caenorhabditis_elegans | WBGENE00001758 | |
| caenorhabditis_elegans | WBGENE00001759 | |
| caenorhabditis_elegans | WBGENE00001760 | |
| caenorhabditis_elegans | WBGENE00001761 | |
| caenorhabditis_elegans | WBGENE00001762 | |
| caenorhabditis_elegans | WBGENE00001764 | |
| caenorhabditis_elegans | WBGENE00001765 | |
| caenorhabditis_elegans | WBGENE00001766 | |
| caenorhabditis_elegans | WBGENE00001767 | |
| caenorhabditis_elegans | WBGENE00001769 | |
| caenorhabditis_elegans | WBGENE00001770 | |
| caenorhabditis_elegans | WBGENE00001771 | |
| caenorhabditis_elegans | WBGENE00001772 | |
| caenorhabditis_elegans | gst-25 | WBGENE00001773 |
| caenorhabditis_elegans | WBGENE00001774 | |
| caenorhabditis_elegans | WBGENE00001775 | |
| caenorhabditis_elegans | WBGENE00001776 | |
| caenorhabditis_elegans | WBGENE00001777 | |
| caenorhabditis_elegans | WBGENE00001779 | |
| caenorhabditis_elegans | WBGENE00001780 | |
| caenorhabditis_elegans | WBGENE00001781 | |
| caenorhabditis_elegans | WBGENE00001782 | |
| caenorhabditis_elegans | WBGENE00001783 | |
| caenorhabditis_elegans | WBGENE00001785 | |
| caenorhabditis_elegans | WBGENE00001786 | |
| caenorhabditis_elegans | WBGENE00001787 | |
| caenorhabditis_elegans | WBGENE00001789 | |
| caenorhabditis_elegans | WBGENE00018911 | |
| caenorhabditis_elegans | WBGENE00018912 | |
| caenorhabditis_elegans | W10C8.4 | WBGENE00021127 |
| caenorhabditis_elegans | WBGENE00021566 |
Paralogs (11): GSTP1 (ENSG00000084207), GSTM1 (ENSG00000134184), GSTM5 (ENSG00000134201), GSTM3 (ENSG00000134202), HPGDS (ENSG00000163106), GSTM4 (ENSG00000168765), GSTA4 (ENSG00000170899), GSTA5 (ENSG00000182793), GSTM2 (ENSG00000213366), GSTA1 (ENSG00000243955), GSTA2 (ENSG00000244067)
Protein
Protein identifiers
Glutathione S-transferase A3 — Q16772 (reviewed: Q16772)
Alternative names: GST class-alpha member 3, Glutathione S-transferase A3-3
All UniProt accessions (3): Q16772, Q5JW84, Q5JW85
UniProt curated annotations — full annotation on UniProt →
Function. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,20-dione, precursors to testosterone and progesterone, respectively. Has substantial activity toward aflatoxin B1-8,9-epoxide.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Similarity. Belongs to the GST superfamily. Alpha family.
RefSeq proteins (2): NP_000838, NP_001350471 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003080 | GST_alpha | Family |
| IPR004045 | Glutathione_S-Trfase_N | Domain |
| IPR004046 | GST_C | Domain |
| IPR010987 | Glutathione-S-Trfase_C-like | Domain |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR036282 | Glutathione-S-Trfase_C_sf | Homologous_superfamily |
| IPR040079 | Glutathione_S-Trfase | Family |
| IPR050213 | GST_superfamily | Family |
Pfam: PF00043, PF02798
Enzyme classification (BRENDA):
- EC 2.5.1.18 — glutathione transferase (BRENDA: 178 organisms, 548 substrates, 680 inhibitors, 878 Km, 525 kcat entries)
- EC 5.3.3.1 — steroid DELTA-isomerase (BRENDA: 15 organisms, 48 substrates, 67 inhibitors, 98 Km, 86 kcat entries)
Substrate kinetics (BRENDA)
89 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 1-CHLORO-2,4-DINITROBENZENE | 0.0003–223.6 | 289 |
| GLUTATHIONE | 0.0002–532.43 | 253 |
| 5-ANDROSTENE-3,17-DIONE | 0.0001–0.548 | 65 |
| GSH | 0.0003–37.4 | 62 |
| REDUCED GLUTATHIONE | 0.017–11.4 | 24 |
| ETHACRYNIC ACID | 0.0001–2.43 | 19 |
| CUMENE HYDROPEROXIDE | 0.038–14.3 | 10 |
| (+)-2-BROMO-3-(4-NITROPHENYL)PROPANOIC ACID | 0.023–0.417 | 8 |
| MONOCHLOROBIMANE | 0.004–0.25 | 8 |
| 4-CHLORO-7-NITROBENZO-2-OXA-1,3-DIAZOLE | 0.324–3.866 | 7 |
| 1-IODOHEXANE | 0.009–0.059 | 6 |
| ALACHLOR | 0.042–7.23 | 6 |
| PHENETHYL ISOTHIOCYANATE | 0.0065–0.14 | 6 |
| STYRENE 7,8-OXIDE | 0.064–0.365 | 6 |
| ANDROSTENE-3,17-DIONE | 0.023–0.0735 | 6 |
Catalyzed reactions (Rhea), 3 shown:
- RX + glutathione = an S-substituted glutathione + a halide anion + H(+) (RHEA:16437)
- pregn-5-ene-3,20-dione = progesterone (RHEA:43928)
- androst-5-ene-3,17-dione = androst-4-ene-3,17-dione (RHEA:43936)
UniProt features (36 total): helix 11, sequence variant 5, strand 5, binding site 4, sequence conflict 3, turn 2, domain 2, modified residue 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2VCV | X-RAY DIFFRACTION | 1.8 |
| 1TDI | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16772-F1 | 97.53 | 0.98 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 9; 45; 54–55; 67–68
Post-translational modifications (2): 2, 4
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-156590 | Glutathione conjugation |
| R-HSA-9818027 | NFE2L2 regulating anti-oxidant/detoxification enzymes |
MSigDB gene sets: 97 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY, BOYAULT_LIVER_CANCER_SUBCLASS_G12_DN, MODULE_75, chr6p12, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, REACTOME_GLUTATHIONE_CONJUGATION, GOBP_GLUTATHIONE_METABOLIC_PROCESS, LEE_LIVER_CANCER_ACOX1_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450, SUZUKI_RESPONSE_TO_TSA
GO Biological Process (3): lipid metabolic process (GO:0006629), glutathione metabolic process (GO:0006749), xenobiotic metabolic process (GO:0006805)
GO Molecular Function (2): glutathione transferase activity (GO:0004364), transferase activity (GO:0016740)
GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Nuclear events mediated by NFE2L2 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| modified amino acid metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
640 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GSTA3 | SLCO6A1 | Q86UG4 | 762 |
| GSTA3 | MGST1 | P10620 | 663 |
| GSTA3 | GSTO1 | P78417 | 593 |
| GSTA3 | CILK1 | Q9UPZ9 | 548 |
| GSTA3 | GSTT2B | P0CG30 | 545 |
| GSTA3 | GSTO2 | Q9H4Y5 | 530 |
| GSTA3 | GCLC | P48506 | 528 |
| GSTA3 | NQO1 | P15559 | 512 |
| GSTA3 | GSTM5 | P46439 | 504 |
| GSTA3 | GCLM | P48507 | 474 |
| GSTA3 | GPX7 | Q96SL4 | 448 |
| GSTA3 | GPA33 | Q99795 | 443 |
| GSTA3 | FRMPD4 | Q14CM0 | 441 |
| GSTA3 | GPX2 | P18283 | 431 |
| GSTA3 | GPX3 | P22352 | 431 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GSTA2 | GSTA4 | psi-mi:“MI:0914”(association) | 0.920 |
| GSTA1 | GSTA4 | psi-mi:“MI:0914”(association) | 0.530 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): GSTA3 (Affinity Capture-MS), GSTA3 (Affinity Capture-MS), GSTA3 (Affinity Capture-MS), GSTA3 (Affinity Capture-MS), GSTA3 (Affinity Capture-MS), GSTA3 (Affinity Capture-MS), APP (Reconstituted Complex), GSTA3 (Affinity Capture-Luminescence)
ESM2 similar proteins: F4IA73, O15217, O16115, O18879, O35543, O60760, P00502, P04903, P04904, P08263, P09210, P09792, P10648, P13745, P14942, P24472, P26624, P26697, P30113, P30114, P30115, P32111, P46418, P46429, P46434, P51781, P80894, P81706, Q08392, Q08393, Q08862, Q08863, Q09607, Q16772, Q28035, Q54QV7, Q556G3, Q5E9G0, Q6AXY0, Q7RTV2
Diamond homologs: O15217, O18879, O73888, P00502, P04903, P04904, P04906, P08263, P09210, P09211, P10648, P13745, P14942, P19157, P24472, P26624, P26697, P30115, P35661, P46088, P46418, P46424, P46425, P47954, P51781, P80031, P80894, P81706, P81942, Q08392, Q08393, Q08862, Q08863, Q16772, Q28035, Q28514, Q54YN2, Q556G3, Q5E9G0, Q5R8R5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
577 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:52896928:CCTG:C | acceptor_loss | 1.0000 |
| 6:52896929:C:CC | acceptor_gain | 1.0000 |
| 6:52896930:T:C | acceptor_loss | 1.0000 |
| 6:52897820:GTCAC:G | donor_loss | 1.0000 |
| 6:52897821:TCACC:T | donor_loss | 1.0000 |
| 6:52897822:CACCT:C | donor_loss | 1.0000 |
| 6:52897824:C:A | donor_loss | 1.0000 |
| 6:52897868:T:TA | donor_gain | 1.0000 |
| 6:52899929:CCTA:C | donor_gain | 1.0000 |
| 6:52899932:A:AC | donor_gain | 1.0000 |
| 6:52899932:A:AT | donor_loss | 1.0000 |
| 6:52899933:C:CA | donor_loss | 1.0000 |
| 6:52899933:C:CC | donor_gain | 1.0000 |
| 6:52900071:CAATT:C | acceptor_gain | 1.0000 |
| 6:52900074:TT:T | acceptor_gain | 1.0000 |
| 6:52900075:TC:T | acceptor_loss | 1.0000 |
| 6:52900076:C:CA | acceptor_loss | 1.0000 |
| 6:52902344:A:AC | donor_gain | 1.0000 |
| 6:52902345:C:CC | donor_gain | 1.0000 |
| 6:52902345:CAGGG:C | donor_gain | 1.0000 |
| 6:52902355:T:TA | donor_gain | 1.0000 |
| 6:52902368:T:A | donor_gain | 1.0000 |
| 6:52902474:CCCAT:C | acceptor_gain | 1.0000 |
| 6:52902475:CCATC:C | acceptor_gain | 1.0000 |
| 6:52902476:CAT:C | acceptor_gain | 1.0000 |
| 6:52902477:ATC:A | acceptor_loss | 1.0000 |
| 6:52902478:TCT:T | acceptor_loss | 1.0000 |
| 6:52902479:C:CC | acceptor_gain | 1.0000 |
| 6:52902480:T:C | acceptor_gain | 1.0000 |
| 6:52902481:T:C | acceptor_gain | 1.0000 |
AlphaMissense
1468 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:52896884:A:C | F197L | 0.985 |
| 6:52896884:A:T | F197L | 0.985 |
| 6:52896886:A:G | F197L | 0.985 |
| 6:52902462:G:C | F52L | 0.985 |
| 6:52902462:G:T | F52L | 0.985 |
| 6:52902464:A:G | F52L | 0.985 |
| 6:52903725:A:C | F30L | 0.985 |
| 6:52903725:A:T | F30L | 0.985 |
| 6:52903727:A:G | F30L | 0.985 |
| 6:52905774:A:G | W21R | 0.984 |
| 6:52905774:A:T | W21R | 0.984 |
| 6:52905776:C:G | R20P | 0.972 |
| 6:52897909:G:C | S154R | 0.971 |
| 6:52897909:G:T | S154R | 0.971 |
| 6:52897911:T:G | S154R | 0.971 |
| 6:52896863:C:A | R204S | 0.970 |
| 6:52896863:C:G | R204S | 0.970 |
| 6:52902417:C:A | Q67H | 0.966 |
| 6:52902417:C:G | Q67H | 0.966 |
| 6:52897892:A:G | L160P | 0.964 |
| 6:52905790:T:A | R15S | 0.962 |
| 6:52905790:T:G | R15S | 0.962 |
| 6:52902463:A:G | F52S | 0.961 |
| 6:52897902:C:G | D157H | 0.959 |
| 6:52902391:G:T | A76D | 0.959 |
| 6:52902445:A:T | V58D | 0.959 |
| 6:52905786:C:T | E17K | 0.959 |
| 6:52905815:A:T | L7H | 0.959 |
| 6:52897904:G:T | A156D | 0.958 |
| 6:52902392:C:G | A76P | 0.958 |
dbSNP variants (sampled 300 via entrez): RS1000599548 (6:52910607 T>C), RS1000742786 (6:52898256 T>A), RS1000773908 (6:52903230 C>A,T), RS1000826600 (6:52902981 G>A), RS1000945110 (6:52903546 G>A,C), RS1000948717 (6:52897942 A>G,T), RS1001000537 (6:52908657 A>G), RS1001552136 (6:52904894 T>A), RS1002005715 (6:52911556 C>G,T), RS1002022788 (6:52904658 T>C), RS1002610390 (6:52899867 G>C), RS1002623336 (6:52905997 C>T), RS1002774491 (6:52900664 A>G), RS1003099710 (6:52907024 G>A), RS1003547113 (6:52908431 C>T)
Disease associations
OMIM: gene MIM:605449 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003999_19 | Nose size | 2.000000e-07 |
| GCST005991_88 | Platelet count | 8.000000e-09 |
| GCST007130_2 | Cerebrospinal fluid t-tau:AB1-42 ratio | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007708 | t-tau:beta-amyloid 1-42 ratio measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4866 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Androstenes | affects metabolic processing | 3 |
| Androstenedione | affects chemical synthesis, affects metabolic processing, increases chemical synthesis | 2 |
| Benzo(a)pyrene | increases methylation, increases expression | 2 |
| Chenodeoxycholic Acid | decreases expression, affects cotreatment | 2 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Glutathione | affects binding, affects metabolic processing | 2 |
| Glycochenodeoxycholic Acid | decreases expression, affects cotreatment | 2 |
| Glycocholic Acid | affects cotreatment, decreases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 2 |
| Progesterone | affects reaction, increases chemical synthesis | 2 |
| bismuth tripotassium dicitrate | decreases expression | 1 |
| 5-androstene-3,17-dione | affects metabolic processing, affects chemical synthesis | 1 |
| lasiocarpine | decreases expression | 1 |
| sanguinarine | decreases reaction, increases metabolic processing | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, decreases expression | 1 |
| chlortoluron | decreases expression | 1 |
| malealdehyde | increases expression | 1 |
| 2-chloroethyl ethyl sulfide | decreases expression | 1 |
| dibenzo(a,l)pyrene | affects binding, affects metabolic processing, decreases response to substance | 1 |
| 1-chloro-2,4-dinitrobenzene-glutathione conjugate | decreases reaction, increases metabolic processing | 1 |
| nefazodone | affects cotreatment, decreases expression | 1 |
| KT 5720 | decreases reaction, increases expression | 1 |
| cyanoginosin LR | affects response to substance, increases glutathionylation | 1 |
| microcystin RR | increases glutathionylation | 1 |
| glycidamide | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| azaspiracid | decreases expression | 1 |
| Atazanavir Sulfate | decreases expression, affects cotreatment | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | affects cotreatment, decreases 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 |
|---|---|---|---|
| CHEMBL1743224 | ADMET | Substrates for human cytosolic glutathione transferase GSTA3 | 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.