GSTM5
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Summary
GSTM5 (glutathione S-transferase mu 5, HGNC:4637) is a protein-coding gene on chromosome 1p13.3, encoding Glutathione S-transferase Mu 5 (P46439). 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. 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-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual’s susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds.
Source: NCBI Gene 2949 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 43 total
- Druggable target: yes
- MANE Select transcript:
NM_000851
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4637 |
| Approved symbol | GSTM5 |
| Name | glutathione S-transferase mu 5 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000134201 |
| Ensembl biotype | protein_coding |
| OMIM | 138385 |
| Entrez | 2949 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 13 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000256593, ENST00000369812, ENST00000369813, ENST00000429410, ENST00000483153, ENST00000492718, ENST00000647711, ENST00000648974, ENST00000878688, ENST00000878689, ENST00000878690, ENST00000878691, ENST00000966870, ENST00000966871, ENST00000966872, ENST00000966873, ENST00000966874
RefSeq mRNA: 1 — MANE Select: NM_000851
NM_000851
CCDS: CCDS811
Canonical transcript exons
ENST00000256593 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000826835 | 109717337 | 109718268 |
| ENSE00001759229 | 109713484 | 109713565 |
| ENSE00001952301 | 109712251 | 109712348 |
| ENSE00003503414 | 109715130 | 109715240 |
| ENSE00003506812 | 109714947 | 109715042 |
| ENSE00003570297 | 109713119 | 109713183 |
| ENSE00003612986 | 109713661 | 109713761 |
| ENSE00003676725 | 109712618 | 109712693 |
Expression profiles
Bgee: expression breadth ubiquitous, 210 present calls, max score 97.36.
FANTOM5 (CAGE): breadth broad, TPM avg 4.6475 / max 159.4020, expressed in 500 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4447 | 3.0834 | 477 |
| 4448 | 1.5640 | 354 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 97.36 | gold quality |
| right ovary | UBERON:0002118 | 96.96 | gold quality |
| amygdala | UBERON:0001876 | 93.44 | gold quality |
| ovary | UBERON:0000992 | 93.13 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.79 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.41 | gold quality |
| endocervix | UBERON:0000458 | 91.89 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.83 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.21 | gold quality |
| gall bladder | UBERON:0002110 | 91.02 | gold quality |
| left uterine tube | UBERON:0001303 | 90.93 | gold quality |
| putamen | UBERON:0001874 | 90.73 | gold quality |
| ventricular zone | UBERON:0003053 | 90.10 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.85 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.53 | gold quality |
| body of uterus | UBERON:0009853 | 89.37 | gold quality |
| vagina | UBERON:0000996 | 89.32 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.93 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.68 | gold quality |
| ectocervix | UBERON:0012249 | 88.64 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 87.89 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 87.89 | silver quality |
| ganglionic eminence | UBERON:0004023 | 87.71 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.39 | gold quality |
| spinal cord | UBERON:0002240 | 87.30 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.25 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.95 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.93 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.75 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 86.73 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 11.31 |
| E-ANND-3 | yes | 11.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting GSTM5, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-5000-3P | 98.79 | 65.63 | 1251 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-6757-5P | 98.08 | 65.50 | 724 |
| HSA-MIR-4736 | 97.96 | 65.89 | 1287 |
| HSA-MIR-7154-3P | 97.65 | 65.02 | 985 |
| HSA-MIR-3928-3P | 97.61 | 66.53 | 1096 |
| HSA-MIR-12128 | 96.67 | 66.98 | 1471 |
| HSA-MIR-6726-5P | 95.97 | 63.72 | 841 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-4300 | 95.85 | 64.56 | 1003 |
Literature-anchored findings (GeneRIF, showing 4)
- The evidence presented suggests that GSTM1 and GSTM5 undergo epigenetic repression in AMD RPE/choroid, which may increase susceptibility to oxidative stress in AMD retinas. (PMID:22410570)
- Genomic polymorphisms of GSTM1 and GSTM5 do not significantly affect the peripheral blood leukocyte mRNA levels. (PMID:25897651)
- Anti-Cancer Effects and Tumor Marker Role of Glutathione S-Transferase Mu 5 in Human Bladder Cancer. (PMID:33802702)
- Aberrant expression of GSTM5 in lung adenocarcinoma is associated with DNA hypermethylation and poor prognosis. (PMID:35729618)
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), GSTM3 (ENSG00000134202), HPGDS (ENSG00000163106), GSTM4 (ENSG00000168765), GSTA4 (ENSG00000170899), GSTA3 (ENSG00000174156), GSTA5 (ENSG00000182793), GSTM2 (ENSG00000213366), GSTA1 (ENSG00000243955), GSTA2 (ENSG00000244067)
Protein
Protein identifiers
Glutathione S-transferase Mu 5 — P46439 (reviewed: P46439)
Alternative names: GST class-mu 5, GSTM5-5
All UniProt accessions (5): A0A3B3IRM5, A0A3B3IU61, P46439, Q5T8R1, Q5T8R2
UniProt curated annotations — full annotation on UniProt →
Function. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Similarity. Belongs to the GST superfamily. Mu family.
RefSeq proteins (1): NP_000842* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003081 | GST_mu | 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)
Substrate kinetics (BRENDA)
79 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 |
| 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 |
| 1,2-DICHLORO-4-NITROBENZENE | 0.27–1.4 | 5 |
| 1-CHLORO-2,3-DINITROBENZOATE | 0.21–20.7 | 5 |
Catalyzed reactions (Rhea), 1 shown:
- RX + glutathione = an S-substituted glutathione + a halide anion + H(+) (RHEA:16437)
UniProt features (11 total): binding site 5, domain 2, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P46439-F1 | 97.37 | 0.97 |
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 (5): 7–8; 46–50; 59–60; 72–73; 116
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-156590 | Glutathione conjugation |
MSigDB gene sets: 170 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, REACTOME_BIOLOGICAL_OXIDATIONS, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, DARWICHE_PAPILLOMA_PROGRESSION_RISK, CHANDRAN_METASTASIS_DN, GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY, KOKKINAKIS_METHIONINE_DEPRIVATION_96HR_UP, JOHANSSON_BRAIN_CANCER_EARLY_VS_LATE_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_AMIDE_METABOLIC_PROCESS, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN
GO Biological Process (1): glutathione metabolic process (GO:0006749)
GO Molecular Function (4): glutathione transferase activity (GO:0004364), identical protein binding (GO:0042802), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| modified amino acid metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| protein binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
832 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GSTM5 | AP5M1 | Q9H0R1 | 887 |
| GSTM5 | GSTZ1 | O43708 | 863 |
| GSTM5 | GSTT2B | P0CG30 | 622 |
| GSTM5 | SLCO6A1 | Q86UG4 | 618 |
| GSTM5 | GSTO1 | P78417 | 543 |
| GSTM5 | GSTO2 | Q9H4Y5 | 507 |
| GSTM5 | GSTA3 | Q16772 | 504 |
| GSTM5 | GSTA5 | Q7RTV2 | 499 |
| GSTM5 | GSTA1 | P08263 | 498 |
| GSTM5 | GSTA2 | P09210 | 474 |
| GSTM5 | GSTA4 | O15217 | 473 |
| GSTM5 | GSTT4 | A0A1W2PR19 | 444 |
| GSTM5 | TP53 | P04637 | 443 |
| GSTM5 | GSTK1 | Q9Y2Q3 | 443 |
| GSTM5 | EIF2AK2 | P19525 | 427 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GSTM5 | GSTM3 | psi-mi:“MI:0914”(association) | 0.830 |
| GSTM3 | GSTM5 | psi-mi:“MI:0915”(physical association) | 0.830 |
| GSTM5 | GSTM3 | psi-mi:“MI:0915”(physical association) | 0.830 |
| GSTM2 | GSTM5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| GSTM5 | GSTM5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| AMOTL2 | GSTM5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GSTM5 | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GSTM5 | GSTM4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ERLIN2 | HSPA5 | psi-mi:“MI:0914”(association) | 0.640 |
| GSTM3 | GSTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSTM5 | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSTM5 | GSTM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AMOTL2 | GSTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSTM5 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSTM2 | GSTM3 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1CC | ATP5F1B | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (33): GSTM5 (Two-hybrid), GSTM5 (Two-hybrid), AMOTL2 (Two-hybrid), GSTM5 (Affinity Capture-MS), GSTM5 (Affinity Capture-MS), GSTM3 (Affinity Capture-MS), GSTM4 (Affinity Capture-MS), ARFGAP1 (Affinity Capture-MS), GSTM5 (Two-hybrid), GSTM5 (Affinity Capture-MS), GSTM4 (Affinity Capture-MS), GSTM3 (Affinity Capture-MS), GSTM5 (Affinity Capture-MS), ARFGAP1 (Affinity Capture-MS), GSTM5 (Two-hybrid)
ESM2 similar proteins: A0A1W2PR19, A6QQZ0, O09131, O65857, O76483, O88741, P09488, P0CG29, P0CG30, P21266, P28161, P28342, P30109, P30568, P30713, P42760, P46409, P46430, P46439, P46440, P48774, P57108, P78417, Q01579, Q03013, Q03425, Q03662, Q4V8E6, Q5BK56, Q5R8E8, Q61133, Q64471, Q84TK0, Q8R5I6, Q8TB36, Q9BEA9, Q9BEB0, Q9C6C8, Q9D4P7, Q9FE46
Diamond homologs: M1RIR6, O35543, O35660, P00502, P04905, P08009, P08010, P08515, P09488, P10649, P15626, P15964, P16413, P19639, P20136, P21266, P28161, P30112, P30116, P31670, P31671, P35661, P46409, P46419, P46427, P46436, P46439, P48774, P51781, P56598, P86214, Q00285, Q03013, Q5BK56, Q5R8E8, Q80W21, Q8JFZ2, Q8R5I6, Q9BEA9, Q9BEB0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 4 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5045 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:109712344:GTGGG:G | donor_gain | 1.0000 |
| 1:109712346:GGG:G | donor_gain | 1.0000 |
| 1:109712347:GGG:G | donor_gain | 1.0000 |
| 1:109713482:A:AG | acceptor_gain | 1.0000 |
| 1:109713483:G:GG | acceptor_gain | 1.0000 |
| 1:109713561:CCTGT:C | donor_gain | 1.0000 |
| 1:109713562:CTGT:C | donor_gain | 1.0000 |
| 1:109713564:GT:G | donor_gain | 1.0000 |
| 1:109713566:G:GG | donor_gain | 1.0000 |
| 1:109713566:GTGA:G | donor_loss | 1.0000 |
| 1:109713567:T:G | donor_loss | 1.0000 |
| 1:109713568:G:GG | donor_loss | 1.0000 |
| 1:109713569:AGTG:A | donor_loss | 1.0000 |
| 1:109713651:T:TA | acceptor_gain | 1.0000 |
| 1:109713652:G:A | acceptor_gain | 1.0000 |
| 1:109713659:A:AT | acceptor_loss | 1.0000 |
| 1:109713660:GGT:G | acceptor_gain | 1.0000 |
| 1:109713903:AC:A | acceptor_gain | 1.0000 |
| 1:109714000:GTTT:G | donor_gain | 1.0000 |
| 1:109714004:G:GG | donor_gain | 1.0000 |
| 1:109737564:TGAG:T | acceptor_gain | 1.0000 |
| 1:109737568:C:CC | acceptor_gain | 1.0000 |
| 1:109737650:TCCTA:T | donor_loss | 1.0000 |
| 1:109737653:TA:T | donor_loss | 1.0000 |
| 1:109737654:A:AG | donor_loss | 1.0000 |
| 1:109737655:CC:C | donor_loss | 1.0000 |
| 1:109737748:TTTC:T | acceptor_gain | 1.0000 |
| 1:109737749:TTCCT:T | acceptor_loss | 1.0000 |
| 1:109737750:TCCTG:T | acceptor_loss | 1.0000 |
| 1:109737751:CCTG:C | acceptor_loss | 1.0000 |
AlphaMissense
1445 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:109713142:T:A | W46R | 0.988 |
| 1:109713142:T:C | W46R | 0.988 |
| 1:109715145:T:C | F158L | 0.978 |
| 1:109715147:C:A | F158L | 0.978 |
| 1:109715147:C:G | F158L | 0.978 |
| 1:109712336:G:C | W8C | 0.977 |
| 1:109712336:G:T | W8C | 0.977 |
| 1:109712334:T:A | W8R | 0.976 |
| 1:109712334:T:C | W8R | 0.976 |
| 1:109715142:G:C | D157H | 0.973 |
| 1:109713175:T:C | F57L | 0.972 |
| 1:109713177:T:A | F57L | 0.972 |
| 1:109713177:T:G | F57L | 0.972 |
| 1:109713548:C:A | A81D | 0.972 |
| 1:109713144:G:C | W46C | 0.971 |
| 1:109713144:G:T | W46C | 0.971 |
| 1:109713551:G:C | R82P | 0.970 |
| 1:109712331:T:C | Y7H | 0.968 |
| 1:109713143:G:C | W46S | 0.967 |
| 1:109713485:T:C | L60P | 0.967 |
| 1:109713487:C:T | P61S | 0.967 |
| 1:109713523:A:C | S73R | 0.966 |
| 1:109713525:C:A | S73R | 0.966 |
| 1:109713525:C:G | S73R | 0.966 |
| 1:109715007:T:C | F141L | 0.966 |
| 1:109715009:T:A | F141L | 0.966 |
| 1:109715009:T:G | F141L | 0.966 |
| 1:109713539:G:C | R78P | 0.965 |
| 1:109713494:T:C | L63S | 0.963 |
| 1:109713485:T:A | L60Q | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000705435 (1:109712157 C>A,G,T), RS1001380103 (1:109714062 C>CA), RS1001897857 (1:109718080 C>T), RS1002383375 (1:109717588 T>A), RS1002786945 (1:109712969 T>A,C), RS1002882407 (1:109710345 A>G), RS1004790101 (1:109713737 C>A,T), RS1005200422 (1:109716074 G>A), RS1005461736 (1:109715917 C>T), RS1006327908 (1:109710296 A>C,G), RS1006716736 (1:109709918 T>C), RS1007000872 (1:109712804 G>A,C), RS1008032605 (1:109714886 G>A), RS1008127952 (1:109709792 G>A), RS1008651871 (1:109716683 C>A)
Disease associations
OMIM: gene MIM:138385 | 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 |
|---|---|---|
| GCST010241_395 | Apolipoprotein A1 levels | 9.000000e-11 |
| GCST010242_455 | HDL cholesterol levels | 7.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2819 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3754446 | GSTM1, GSTM5 | 3 | 0.00 | 1 | busulfan |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| apocarotenal | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| licochalcone B | increases expression | 1 |
| Dasatinib | increases expression | 1 |
| Decitabine | affects expression, affects methylation | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | decreases expression | 1 |
| Catechin | increases expression, affects cotreatment | 1 |
| Fonofos | increases methylation | 1 |
| Nickel | decreases expression | 1 |
| Parathion | increases methylation | 1 |
| Quercetin | increases expression | 1 |
| Sarin | increases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Vitamin E | increases expression | 1 |
| Paclitaxel | decreases response to substance | 1 |
| beta Carotene | 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 |
|---|---|---|---|
| CHEMBL1743231 | ADMET | Substrates for human cytosolic glutathione transferase GSTM5 | 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.