# GSTO2

> Gene · canonical: https://sugi.bio/atlas/gene/GSTO2/
> Atlas v1.12.2 · generated 2026-10-13T13:32:47+00:00

## Summary

**GSTO2** (glutathione S-transferase omega 2, HGNC:23064) is a protein-coding gene on chromosome 10q25.1, encoding **Glutathione S-transferase omega-2** (Q9H4Y5). Exhibits glutathione-dependent thiol transferase activity.

The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.

*Source: [NCBI Gene 119391](https://www.ncbi.nlm.nih.gov/gene/119391) — RefSeq curated summary.*

**At a glance**

- **GWAS associations:** 1
- **Clinical variants (ClinVar):** 37 total
- **GTEx eGene:** eQTL in 45 tissues, sQTL in 35 (q < 0.05)
- **Constraint (gnomAD):** pLI 0.00 (LoF-tolerant), LOEUF 1.24 (unconstrained)
- **MANE Select transcript:** `NM_183239`




## Identifiers

### Gene identifiers

| Field | Value |
| --- | --- |
| HGNC ID | HGNC:23064 |
| Approved symbol | GSTO2 |
| Name | glutathione S-transferase omega 2 |
| Location | 10q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000065621 |
| Ensembl biotype | protein_coding |
| OMIM | 612314 |
| Entrez | 119391 |

## Gene structure

### Transcript identifiers

**Ensembl transcripts: 13** — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

**MANE Select:** `ENST00000338595`

**Transcript support level (Ensembl TSL; 1 = fully mRNA-supported):** TSL 1: 2, TSL 2: 1, TSL 3: 3, TSL 5: 1

`ENST00000338595`, `ENST00000369707`, `ENST00000450629`, `ENST00000467629`, `ENST00000473401`, `ENST00000477078`, `ENST00000498052`, `ENST00000912037`, `ENST00000912038`, `ENST00000912039`, `ENST00001119643`, `ENST00001129040`, `ENST00001136395`

**RefSeq mRNA: 4** — MANE Select: `NM_183239`
`NM_001191013`, `NM_001191014`, `NM_001191015`, `NM_183239`

**CCDS:** `CCDS53574`, `CCDS53575`, `CCDS7556`

#### Canonical transcript exons

`ENST00000338595` — 7 exons

| Exon | Start | End |
| --- | --- | --- |
| ENSE00001388955 | 104274685 | 104274949 |
| ENSE00001601180 | 104275226 | 104275334 |
| ENSE00003327182 | 104269184 | 104269269 |
| ENSE00003632446 | 104299128 | 104304950 |
| ENSE00003654920 | 104297578 | 104297684 |
| ENSE00003666141 | 104277894 | 104278116 |
| ENSE00003674529 | 104279370 | 104279471 |

### Expression profiles

**Bgee:** expression breadth **ubiquitous**, 215 present calls, max score 93.05.

**FANTOM5 (CAGE):** breadth **ubiquitous**, TPM avg 11.8268 / max 136.3565, expressed in 1278 samples.

**Highest expression (Bgee):** body of pancreas, upper arm skin, pancreas, islet of Langerhans, skin of abdomen.

#### Genetic regulation across tissues (GTEx eQTL / sQTL)

GSTO2 is an **eGene** in GTEx v10 — its expression is genetically regulated (eQTL) in **45** tissues and its splicing (sQTL) in **35** (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant's alternative allele.

showing 20 of 80 significant tissue × QTL associations:

| Tissue | QTL | q-value | Slope | Lead variant |
| --- | --- | --- | --- | --- |
| Skin Sun Exposed Lower leg | sqtl | 4.8e-114 | -0.99 | 10:104279427:A:G |
| Skin Sun Exposed Lower leg | eqtl | 2.1e-110 | +0.52 | 10:104275555:C:G |
| Skin Not Sun Exposed Suprapubic | sqtl | 6.6e-100 | -1.06 | 10:104279427:A:G |
| Skin Not Sun Exposed Suprapubic | eqtl | 2.8e-96 | +0.60 | 10:104273681:T:C |
| Thyroid | sqtl | 6.4e-73 | -1.00 | 10:104275555:C:G |
| Esophagus Mucosa | sqtl | 9.5e-72 | -1.03 | 10:104279427:A:G |
| Testis | sqtl | 2.7e-59 | -0.77 | 10:104273681:T:C |
| Pancreas | sqtl | 3.4e-57 | -1.14 | 10:104279427:A:G |
| Pituitary | sqtl | 7.0e-54 | -1.17 | 10:104273681:T:C |
| Brain Cerebellar Hemisphere | eqtl | 1.2e-47 | -0.95 | 10:104275555:C:G |
| Brain Cerebellum | eqtl | 5.9e-47 | -0.98 | 10:104275555:C:G |
| Brain Anterior cingulate cortex BA24 | eqtl | 9.6e-38 | -0.79 | 10:104273681:T:C |
| Brain Frontal Cortex BA9 | eqtl | 8.3e-37 | -0.85 | 10:104275555:C:G |
| Artery Aorta | sqtl | 4.2e-36 | -0.90 | 10:104275555:C:G |
| Nerve Tibial | eqtl | 7.5e-36 | -0.44 | 10:104275555:C:G |
| Brain Caudate basal ganglia | sqtl | 2.9e-35 | -1.11 | 10:104273681:T:C |
| Brain Nucleus accumbens basal ganglia | sqtl | 7.9e-35 | -1.08 | 10:104275555:C:G |
| Brain Cortex | eqtl | 4.2e-33 | -0.83 | 10:104275555:C:G |
| Cells Cultured fibroblasts | eqtl | 1.8e-29 | +1.64 | 10:104267428:A:T |
| Brain Caudate basal ganglia | eqtl | 9.5e-29 | -0.42 | 10:104275555:C:G |

#### FANTOM5 promoters

6 alternative TSS:

| Promoter ID | TPM avg | Samples expressed |
| --- | --- | --- |
| 106883 | 6.5846 | 1005 |
| 106882 | 3.9498 | 766 |
| 106880 | 1.1455 | 711 |
| 106881 | 0.0781 | 21 |
| 106879 | 0.0446 | 3 |
| 106878 | 0.0242 | 9 |

#### Top tissues by expression

showing 100 of 247 tissues by Bgee expression score (0-100, higher = more expressed):

| Tissue | Anatomy ID | Expression score | Quality |
| --- | --- | --- | --- |
| body of pancreas | UBERON:0001150 | 93.05 | gold quality |
| upper arm skin | UBERON:0004263 | 92.41 | gold quality |
| pancreas | UBERON:0001264 | 91.37 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.29 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.26 | gold quality |
| right testis | UBERON:0004534 | 91.22 | gold quality |
| right uterine tube | UBERON:0001302 | 91.11 | gold quality |
| left testis | UBERON:0004533 | 91.04 | gold quality |
| skin of leg | UBERON:0001511 | 90.59 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.49 | gold quality |
| pituitary gland | UBERON:0000007 | 90.18 | gold quality |
| zone of skin | UBERON:0000014 | 89.98 | gold quality |
| testis | UBERON:0000473 | 88.69 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.20 | silver quality |
| ileal mucosa | UBERON:0000331 | 87.91 | gold quality |
| upper leg skin | UBERON:0004262 | 87.44 | gold quality |
| sperm | CL:0000019 | 87.33 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.98 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.27 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 85.99 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 85.73 | gold quality |
| thyroid gland | UBERON:0002046 | 85.54 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.17 | gold quality |
| prostate gland | UBERON:0002367 | 85.00 | gold quality |
| minor salivary gland | UBERON:0001830 | 84.95 | gold quality |
| adult organism | UBERON:0007023 | 84.85 | gold quality |
| rectum | UBERON:0001052 | 84.57 | gold quality |
| mouth mucosa | UBERON:0003729 | 84.26 | gold quality |
| skin of hip | UBERON:0001554 | 84.14 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.91 | gold quality |
| body of stomach | UBERON:0001161 | 83.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 83.81 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 83.63 | gold quality |
| oviduct epithelium | UBERON:0004804 | 83.60 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 83.44 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 83.21 | gold quality |
| cortex of kidney | UBERON:0001225 | 82.45 | gold quality |
| nucleus accumbens | UBERON:0001882 | 82.44 | gold quality |
| stomach | UBERON:0000945 | 82.34 | gold quality |
| duodenum | UBERON:0002114 | 82.18 | gold quality |
| metanephros | UBERON:0000081 | 81.94 | gold quality |
| vagina | UBERON:0000996 | 81.76 | gold quality |
| kidney | UBERON:0002113 | 81.76 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 81.64 | gold quality |
| gingival epithelium | UBERON:0001949 | 81.60 | gold quality |
| left ovary | UBERON:0002119 | 81.56 | gold quality |
| bronchial epithelial cell | CL:0002328 | 81.46 | gold quality |
| seminal vesicle | UBERON:0000998 | 81.27 | gold quality |
| caudate nucleus | UBERON:0001873 | 81.22 | gold quality |
| gingiva | UBERON:0001828 | 81.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.70 | gold quality |
| putamen | UBERON:0001874 | 80.65 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 80.60 | gold quality |
| bronchus | UBERON:0002185 | 80.52 | gold quality |
| fallopian tube | UBERON:0003889 | 80.20 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.83 | gold quality |
| ventricular zone | UBERON:0003053 | 79.13 | gold quality |
| endometrium | UBERON:0001295 | 79.10 | gold quality |
| ovary | UBERON:0000992 | 79.03 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.02 | gold quality |
| transverse colon | UBERON:0001157 | 78.62 | gold quality |
| oral cavity | UBERON:0000167 | 78.53 | gold quality |
| kidney epithelium | UBERON:0004819 | 78.32 | silver quality |
| mammalian vulva | UBERON:0000997 | 78.15 | gold quality |
| hypothalamus | UBERON:0001898 | 78.08 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.92 | gold quality |
| amygdala | UBERON:0001876 | 77.72 | gold quality |
| forebrain | UBERON:0001890 | 77.51 | gold quality |
| right frontal lobe | UBERON:0002810 | 77.48 | gold quality |
| caput epididymis | UBERON:0004358 | 77.42 | gold quality |
| jejunal mucosa | UBERON:0000399 | 77.40 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 77.34 | gold quality |
| colonic mucosa | UBERON:0000317 | 77.03 | gold quality |
| cauda epididymis | UBERON:0004360 | 76.91 | gold quality |
| right ovary | UBERON:0002118 | 76.90 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 76.89 | gold quality |
| neocortex | UBERON:0001950 | 76.80 | gold quality |
| frontal cortex | UBERON:0001870 | 76.71 | gold quality |
| right adrenal gland | UBERON:0001233 | 76.56 | gold quality |
| small intestine Peyer's patch | UBERON:0003454 | 76.33 | gold quality |
| small intestine | UBERON:0002108 | 76.14 | gold quality |
| adrenal tissue | UBERON:0018303 | 76.14 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.05 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.95 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 75.95 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 75.87 | gold quality |
| nipple | UBERON:0002030 | 75.78 | gold quality |
| brain | UBERON:0000955 | 75.75 | gold quality |
| amniotic fluid | UBERON:0000173 | 75.69 | gold quality |
| esophagus | UBERON:0001043 | 75.64 | gold quality |
| female reproductive system | UBERON:0000474 | 75.35 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 75.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.29 | gold quality |
| cerebral cortex | UBERON:0000956 | 75.15 | gold quality |
| adrenal cortex | UBERON:0001235 | 74.76 | gold quality |
| adrenal gland | UBERON:0002369 | 74.75 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 74.68 | gold quality |
| tonsil | UBERON:0002372 | 74.56 | gold quality |
| mammary duct | UBERON:0001765 | 74.52 | gold quality |

#### Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

| Experiment | Marker? | Max mean expression |
| --- | --- | --- |
| [E-ANND-3](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-3) | yes | 8.36 |

#### HPA expression

RNA tissue specificity: **Tissue enhanced**

showing 60 of 79 HPA tissues / cells by nTPM:

| Tissue / cell | Axis | nTPM | Protein (IHC) |
| --- | --- | --- | --- |
| Nucleus accumbens | tissue | 20.8 |  |
| Postcentral gyrus | tissue | 17.5 |  |
| Hippocampus | tissue | 14.2 | low |
| Locus coeruleus | tissue | 13.4 |  |
| Pituitary gland | tissue | 9.8 |  |
| Choroid plexus | tissue | 9.6 |  |
| Testis | tissue | 9.3 | medium |
| Skin 1 | tissue | 6.2 | low |
| Retina | tissue | 5.6 |  |
| Pancreas | tissue | 5.3 | medium |
| Breast | tissue | 4.9 | medium |
| Stomach 1 | tissue | 4.9 | medium |
| Parathyroid gland | tissue | 4.7 | medium |
| Epididymis | tissue | 4.6 | high |
| Fallopian tube | tissue | 4.1 | high |
| Prostate | tissue | 4.0 | high |
| Kidney | tissue | 3.9 | medium |
| Thyroid gland | tissue | 3.8 | medium |
| Vagina | tissue | 3.3 | medium |
| Seminal vesicle | tissue | 3.0 | medium |
| Rectum | tissue | 2.9 | medium |
| Cerebellum | tissue | 2.8 | not detected |
| Cervix | tissue | 2.7 | high |
| Colon | tissue | 2.7 | medium |
| Small intestine | tissue | 2.7 | medium |
| Duodenum | tissue | 2.7 | medium |
| Ovary | tissue | 2.6 | not detected |
| Salivary gland | tissue | 2.5 | medium |
| Esophagus | tissue | 2.3 | low |
| Endometrium 1 | tissue | 2.1 | high |
| Thymus | tissue | 2.0 |  |
| Bone marrow | tissue | 1.9 | medium |
| Olfactory bulb | tissue | 1.7 |  |
| Adrenal gland | tissue | 1.6 | medium |
| Prefrontal cortex | tissue | 1.5 |  |
| Cerebral cortex | tissue | 1.5 | low |
| Urinary bladder | tissue | 1.5 | medium |
| Retrosplenial and cingulate cortex | tissue | 1.5 |  |
| Insular cortex | tissue | 1.5 |  |
| Amygdala | tissue | 1.4 |  |
| Skeletal muscle | tissue | 1.3 | not detected |
| Motor cortex | tissue | 1.3 |  |
| Lung | tissue | 1.3 | medium |
| Liver | tissue | 1.3 | medium |
| Hippocampal formation | tissue | 1.3 |  |
| Retrosplenial cortex | tissue | 1.3 |  |
| Tongue | tissue | 1.2 |  |
| Frontal cortex | tissue | 1.2 |  |
| Gallbladder | tissue | 1.2 | high |
| Spinal cord | tissue | 1.2 |  |
| Corpus callosum | tissue | 1.2 |  |
| Entorhinal cortex | tissue | 1.2 |  |
| Caudate putamen | tissue | 1.2 |  |
| Somatosensory cortex | tissue | 1.2 |  |
| Temporal cortex | tissue | 1.2 |  |
| Smooth muscle | tissue | 1.1 | medium |
| Basal ganglia | tissue | 1.1 | low |
| Putamen | tissue | 1.1 |  |
| Medulla oblongata | tissue | 1.1 |  |
| Superior colliculi | tissue | 1.1 |  |

**Brain sub-regions (HPA Brain Atlas):** detected in 192; highest nTPM — Posterior insular cortex (19.5), Parieto-temporal junction (white matter) (19.4), Stria terminalis, bed nucleus (19.3), Caudate nucleus (19.2), Transversal temporal gyrus, posterior (19.2).

### Regulation

**Is transcription factor: no**

#### miRNA regulators (miRDB)

Targeting GSTO2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

12 miRNAs:

| miRNA | Max score | Avg score | miRNA target_count |
| --- | --- | --- | --- |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-218-1-3P | 98.63 | 67.97 | 832 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-4471 | 95.11 | 66.84 | 755 |
| HSA-MIR-8059 | 95.11 | 66.30 | 646 |
| HSA-MIR-2277-3P | 91.94 | 62.27 | 299 |

### Functional genomics

**gnomAD constraint:** pLI 1.03e-05, LOEUF 1.24, missense Z 0.236 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). [gnomAD](https://gnomad.broadinstitute.org/)

**Regional missense constraint (gnomAD RMC):** no regional variation along `ENST00000338595` — one region, missense o/e 1.00.

### Literature-anchored findings (GeneRIF, showing 40)

- Our results do not confirm an association between PD and frequency of the polymorphisms investigated: hGSTO1\*A140D, & hGSTO1\*E155del. (PMID:15159516)
- no association either with age-at-onset in AD cases or with disease risk in the case-control cohort but haplotype analysis revealed a modest association of one haplotype with AD risk (p = 0.04) (PMID:15917099)
- molecular cloning; GSTO2 was ubiquitously expressed at a low level, with a higher expression in pancreas and prostate (PMID:15942673)
- a glutathione S-transferase omega 2 gene polymorphism may havea role in ovarian cancer (PMID:16761626)
- Differences in expression at the protein level of the major splice variant of GSTO2 suggests that this enzyme is less active in human cells compared with chimpanzee cells. (PMID:17978102)
- GSTO2 DD genotype was associated with decreased risk as compared to GSTO2 NN genotype (OR = 0.21, 95% CI: 0.05-0.92, P = 0.038) (PMID:18398695)
- These results suggest a possible effect of the GSTO1 and 2 locus on age of onset of FALS. (PMID:18427999)
- GSTO1\*A140D polymorphism is significantly associated with susceptibility to childhood acute lymphoblastic leukemia. (PMID:18941778)
- Report GSTO2 gene polymorphisms in worldwide populations. (PMID:18986335)
- The genetic polymorphism of GSTT1, GSTM1 and GSTO2 N412D in three Iranian populations was detected. (PMID:19430957)
- The Asn142Asp polymorphism in GSTO2 and the GSTO1-140Asp/GSTO2-142Asp haplotype were associated with increased risk of COPD. GSTO2 is a candidate gene for COPD, but is not associated with FEV(1). (PMID:19513904)
- polymorphisms in GSTO1 or GSTO2 do not appear to contribute to the large individual variability in arsenic metabolism or susceptibility to arsenicosis. (PMID:19635583)
- Our findings suggest that a significantly joint effect of cigarette smoking, alcohol consumption, arsenic and occupational exposures and risk genotypes/diplotypes of CYP2E1, GSTO1 and GSTO2 on risk of urothelial carcinoma was found. (PMID:19686770)
- Genetic polymorphisms in GSTM1, GSTO2, XRCC1 at codons 194 and 399 may act additively for developing breast cancer (PMID:19731014)
- it is unlikely that glutathione S-transferases GSTA2, GSTM2, GSTO1, GSTO2, and GSTZ1 participate in breast cancer susceptibility. (PMID:19859803)
- 142Asp allozyme could modulate arsenic biotransformation and thereby arsenic toxicity (PMID:20045512)
- This study provides the allele frequencies of GSTO polymorphism in a sample consisting of 116 apparently healthy individuals of both sexes from Rome (Central Italy). (PMID:20113212)
- the frequencies of GSTA1 (glutathione S-transferase alpha 1), GSTM1(GST mu 1 ), GSTO2(GST omega 2) and GSTT1(GST theta 1) genotypes found in asthmatic patients differ from those of controls (PMID:20367187)
- Subjects who had the GSTO2 homozygous D142 genotype were found to have an increased risk of asthma (PMID:20374258)
- Has a role in the risk of Urothelial carcinogenesis (PMID:21094982)
- GSTO2 NN genotype increase the risk of colorectal cancer in persons with positive family history for cancer in the first degree relatives. (PMID:21113667)
- CYP2D6 (rs16947) and GSTO2 (rs156697) polymorphisms are independent factors influencing complete remission rates of the first induction chemotherapy in de novo AML patients. (PMID:21518482)
- GSTA1 and the GSTO2 are asthma susceptible genes involved in increasing the risk of asthma development in the Italian population (PMID:22040239)
- Found that rs156697 minor allele of GSTO2 associates with increased risk in the older ADs with age-at-diagnosis > 80 years. The minor alleles of GSTO1 rs4925 and GSTO2 rs156697 associate with lower brain levels of GSTO2, but not GSTO1. (PMID:22494505)
- crystal structures of human GSTO2-2, stabilized through site-directed mutagenesis and determined at 1.9 A resolution in the presence and absence of glutathione (PMID:22522127)
- The polymorphisms of GSTM1 and GSTO2 along with the work place influence may act additively for developing cataract. (PMID:22876127)
- Variants in human GSTO2 could increase disease risk susceptibility and could act as a risk factor for hypothyroidism in Italian patients. (PMID:23079717)
- The frequencies of GSTO1 and GSTO2 genotypes were not significantly different between head and neck squamous cell carcinoma cases and controls. (PMID:23086268)
- No significant association between GSTO2 polymorphism and acute renal graft rejection. (PMID:23649768)
- The results indicate that mutant GSTO2\*Asp genotype is associated with increased risk of age-related cataract in smokers and ultraviolet-exposed subjects, suggesting a role of inefficient ascorbate regeneration in cataract development. (PMID:23927022)
- GSTT1 active genotype and GSTO1 Asp140Asp and GSTO2 Asp142Asp genotypes may have a prognostic/pharmacogenomic role in patients with muscle invasive bladder cancer. (PMID:24040330)
- The GSTA1\*-69T and GSTO2\*D142 variants are both associated with a significantly increased risk of asthma. (PMID:24471578)
- The present study found that rs3740400 in As3MT and rs156697 in GSTO2 were strongly associated with the arsenic species (%iAs, %MMA and MMA/iAs and DMA/MMA ratios) in urine of the occupationally exposed workers and they may influence methylation capacity. (PMID:25491248)
- Our results indicate that GSTO1\*C/GSTO2\*G haplotype is associated with increased risk of TCC. The modifying effect of GSTO2\*G/G genotype on individual susceptibility to TCC is more pronounced, when associated with smoking. (PMID:25716313)
- No significant association has been found between childhood Pre-B acute lymphoblastic leukemia and GSTO1 A140D and GSTO2 N142D polymorphisms. (PMID:25726706)
- we for the first time provided evidence supporting the prognostic role of GSTO2 in the progression of TACE-treated hepatocellular carcinoma (PMID:25835968)
- GSTO2 and GSTP1 gene polymorphisms may serve as independent prognostic markers for hepatocellular carcinoma patients. (PMID:25892883)
- GSTO2 genetic polymorphisms are not associated with the development of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation. (PMID:26103006)
- GSTO2 genetic polymorphisms are associated with the progression of HBV infection. (PMID:27221910)
- The GSTO2 rs2297235 "AG" genotype is associated to SCA2 but failed to show any association with clinical markers, with the exception of a potential association with the age at disease onset. (PMID:28017238)

### Cross-species orthologs

**42 orthologs**

| Organism | Symbol | Gene ID |
| --- | --- | --- |
| danio_rerio | gstr | ENSDARG00000042620 |
| danio_rerio | gstt2 | ENSDARG00000095464 |
| mus_musculus | Gsto2 | ENSMUSG00000025069 |
| rattus_norvegicus | Gsto2 | ENSRNOG00000069697 |
| drosophila_melanogaster | GstD1 | FBGN0001149 |
| drosophila_melanogaster | GstD2 | FBGN0010038 |
| drosophila_melanogaster | GstD3 | FBGN0010039 |
| drosophila_melanogaster | GstD4 | FBGN0010040 |
| drosophila_melanogaster | GstD5 | FBGN0010041 |
| drosophila_melanogaster | GstD6 | FBGN0010042 |
| drosophila_melanogaster | GstD7 | FBGN0010043 |
| drosophila_melanogaster | GstD8 | FBGN0010044 |
| drosophila_melanogaster | GstE12 | FBGN0027590 |
| drosophila_melanogaster | Clic | FBGN0030529 |
| drosophila_melanogaster | GstT3 | FBGN0031117 |
| drosophila_melanogaster | GstE13 | FBGN0033381 |
| drosophila_melanogaster | GstE1 | FBGN0034335 |
| drosophila_melanogaster | GstE11 | FBGN0034354 |
| drosophila_melanogaster | GstO3 | FBGN0035904 |
| drosophila_melanogaster | GstO2 | FBGN0035906 |
| drosophila_melanogaster | GstO1 | FBGN0035907 |
| drosophila_melanogaster | GstD9 | FBGN0038020 |
| drosophila_melanogaster | GstD10 | FBGN0042206 |
| drosophila_melanogaster | GstT1 | FBGN0050000 |
| drosophila_melanogaster | GstT2 | FBGN0050005 |
| drosophila_melanogaster | GstE9 | FBGN0063491 |
| drosophila_melanogaster | GstE8 | FBGN0063492 |
| drosophila_melanogaster | GstE7 | FBGN0063493 |
| drosophila_melanogaster | GstE6 | FBGN0063494 |
| drosophila_melanogaster | GstE5 | FBGN0063495 |
| drosophila_melanogaster | GstE4 | FBGN0063496 |
| drosophila_melanogaster | GstE3 | FBGN0063497 |
| drosophila_melanogaster | GstE2 | FBGN0063498 |
| drosophila_melanogaster | GstE10 | FBGN0063499 |
| drosophila_melanogaster | se | FBGN0086348 |
| caenorhabditis_elegans | exc-4 | WBGENE00001365 |
| caenorhabditis_elegans |  | WBGENE00001371 |
| caenorhabditis_elegans | gst-43 | WBGENE00001791 |
| caenorhabditis_elegans |  | WBGENE00001792 |
| caenorhabditis_elegans |  | WBGENE00015337 |
| caenorhabditis_elegans |  | WBGENE00021817 |
| caenorhabditis_elegans |  | WBGENE00043097 |

**Paralogs (14):** GSTT2 (ENSG00000099984), GSTZ1 (ENSG00000100577), GDAP1 (ENSG00000104381), CLIC5 (ENSG00000112782), GDAP1L1 (ENSG00000124194), GSTT2B (ENSG00000133433), GSTO1 (ENSG00000148834), CLIC2 (ENSG00000155962), CLIC6 (ENSG00000159212), CLIC4 (ENSG00000169504), CLIC3 (ENSG00000169583), CLIC1 (ENSG00000213719), EEF1G (ENSG00000254772), GSTT4 (ENSG00000276950)

#### Mouse-model phenotypes

Observed phenotypes of the mouse ortholog ([MGI:1915464](https://www.informatics.jax.org/marker/MGI:1915464)) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

| Mouse phenotype (MP) | Records |
| --- | --- |
| increased bone mineral density | 1 |
| abnormal vibrissa morphology | 1 |
| increased heart weight | 1 |
| increased bone mineral content | 1 |

#### Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara's model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions' gene symbols aren't in biobtree yet, so each row shows the UniProt accession.

| Organism | UniProt | Identity | Method |
| --- | --- | --- | --- |
| Nicotiana tabacum | [Q03663](https://www.uniprot.org/uniprotkb/Q03663/entry) | 94.2% | Diamond |
| Sus scrofa | [Q9N1F5](https://www.uniprot.org/uniprotkb/Q9N1F5/entry) | 81.7% | Diamond |
| Solanum tuberosum | [P32111](https://www.uniprot.org/uniprotkb/P32111/entry) | 75.2% | Diamond |
| Caenorhabditis briggsae | [A8XT16](https://www.uniprot.org/uniprotkb/A8XT16/entry) | 65.4% | Diamond |
| Glycine max | [P32110](https://www.uniprot.org/uniprotkb/P32110/entry) | 56.0% | Diamond |
| Aplysia californica | [P81124](https://www.uniprot.org/uniprotkb/P81124/entry) | 41.9% | Diamond |

### Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

| Symbol | Type | Entrez |
| --- | --- | --- |
| [ITPRIP-AS1](/atlas/gene/ITPRIP-AS1/) | ncRNA | 101927472 |
| [LINC02620](/atlas/gene/LINC02620/) | ncRNA | 101927523 |
| [CFAP58](/atlas/gene/CFAP58/) | protein-coding | 159686 |
| [ITPRIP](/atlas/gene/ITPRIP/) | protein-coding | 85450 |
| [MIR609](/atlas/gene/MIR609/) | ncRNA | 693194 |
| [CFAP43](/atlas/gene/CFAP43/) | protein-coding | 80217 |
| [GSTO1](/atlas/gene/GSTO1/) | protein-coding | 9446 |
| [CFAP58-DT](/atlas/gene/CFAP58-DT/) | ncRNA | 100505869 |
| [MIR4482](/atlas/gene/MIR4482/) | ncRNA | 100616323 |

<a id="protein-Q9H4Y5"></a>

## Protein

### Protein identifiers

**Glutathione S-transferase omega-2** — `Q9H4Y5` (reviewed: Q9H4Y5)

**Alternative names:** Glutathione S-transferase omega 2-2, Glutathione-dependent dehydroascorbate reductase, Monomethylarsonic acid reductase

**All UniProt accessions (1):** `Q9H4Y5`

#### UniProt curated annotations — [full annotation on UniProt →](https://www.uniprot.org/uniprotkb/Q9H4Y5/entry)

**Function.** Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA).

**Tissue specificity.** Expressed in a range of tissues, including the liver, kidney, skeletal muscle and prostate. Strongest expression in the testis.

**Similarity.** Belongs to the GST superfamily. Omega family.

#### Isoforms (3)

| UniProt ID | Names | Canonical? |
| --- | --- | --- |
| Q9H4Y5-1 | 1 | yes |
| Q9H4Y5-2 | 2 |  |
| Q9H4Y5-3 | 3 |  |

**RefSeq proteins (4):** `NP_001177942`, `NP_001177943`, `NP_001177944`, `NP_899062`*  (*=MANE)

#### Domains & families (InterPro)

| ID | Name | Type |
| --- | --- | --- |
| IPR004045 | Glutathione_S-Trfase_N | Domain |
| IPR005442 | GST_omega | Family |
| 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 |
| IPR050983 | GST_Omega/HSP26 | Family |

**Pfam:** `PF13417`

#### Enzyme classification (BRENDA)

- EC 1.8.5.1 — glutathione dehydrogenase (ascorbate) *(BRENDA: 48 organisms, 27 substrates, 37 inhibitors, 140 Km, 68 kcat entries)*
- EC 2.5.1.18 — glutathione transferase *(BRENDA: 178 organisms, 548 substrates, 680 inhibitors, 878 Km, 525 kcat entries)*

#### Substrate kinetics (BRENDA)

82 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 |
| DEHYDROASCORBATE | 0.019–2.5 | 73 |
| GSH | 0.0003–37.4 | 62 |
| GLUTATHIONE | 0.04–12.71 | 42 |
| REDUCED GLUTATHIONE | 0.017–11.4 | 24 |
| ETHACRYNIC ACID | 0.0001–2.43 | 19 |
| GSH | 0.69–5.2 | 17 |
| 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 |

#### Catalyzed reactions (Rhea)

- methylarsonate + 2 glutathione + H(+) = methylarsonous acid + glutathione disulfide + H2O *(RHEA:15969)*
- RX + glutathione = an S-substituted glutathione + a halide anion + H(+) *(RHEA:16437)*
- L-dehydroascorbate + 2 glutathione = glutathione disulfide + L-ascorbate *(RHEA:24424)*

**UniProt features (36 total):** helix 16, strand 6, binding site 3, domain 2, sequence variant 2, splice variant 2, chain 1, mutagenesis site 1, sequence conflict 1, turn 1, active site 1

### Structure

#### Experimental structures (PDB)

3 structures by resolution:

| PDB | Title | Method | Resolution (Å) |
| --- | --- | --- | --- |
| 3Q18 | Human Glutathione Transferase O2 | X-RAY DIFFRACTION | 1.7 |
| 3Q19 | Human Glutathione Transferase O2 | X-RAY DIFFRACTION | 1.9 |
| 3QAG | Human Glutathione Transferase O2 with glutathione -new crystal form | X-RAY DIFFRACTION | 2 |

#### Predicted structure (AlphaFold)

| Model | pLDDT | Fraction very-high |
| --- | --- | --- |
| AF-Q9H4Y5-F1 | 97.33 | 0.98 |

### Human Protein Atlas

**Protein class:** Enzymes, ENZYME proteins, Oxidoreductases, Transferases, Metabolic proteins, Predicted intracellular proteins

**Protein evidence:** Evidence at protein level

**Subcellular location (HPA, imaging):** nucleoli; nucleoplasm

**Antibody reliability (HPA):** IH approved · IF approved

### Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. *Source: UniProtKB sequence features.*

#### Catalytic / active sites (1)

| Position | Role |
| --- | --- |
| 32 | nucleophile |

#### Ligand- & substrate-binding residues (3)

| Position | Role |
| --- | --- |
| 59 | glutathione |
| 72 | glutathione |
| 85–86 | glutathione |

#### Mutagenesis-validated functional residues (1)

| Position | Phenotype |
| --- | --- |
| 34 | abolishes dhar activity. |

## Function

### Pathways and Gene Ontology

#### Reactome pathways

**0 curated (TAS)** of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

7 pathways:

| ID | Pathway | Evidence |
| --- | --- | --- |
| R-HSA-211859 | Biological oxidations | — |
| R-HSA-156590 | Glutathione conjugation | — |
| R-HSA-1430728 | Metabolism | — |
| R-HSA-196854 | Metabolism of vitamins and cofactors | — |
| R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors | — |
| R-HSA-156580 | Phase II - Conjugation of compounds | — |
| R-HSA-196836 | Vitamin C (ascorbate) metabolism | — |

**MSigDB gene sets: 95** (showing top):
`REACTOME_BIOLOGICAL_OXIDATIONS`, `TGACCTY_ERR1_Q2`, `CHANDRAN_METASTASIS_DN`, `GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY`, `SENESE_HDAC1_AND_HDAC2_TARGETS_DN`, `YGACNNYACAR_UNKNOWN`, `GOBP_L_ASCORBIC_ACID_METABOLIC_PROCESS`, `GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE`, `GOBP_AMIDE_METABOLIC_PROCESS`, `GOBP_CELLULAR_RESPONSE_TO_ARSENIC_CONTAINING_SUBSTANCE`, `GOBP_DETOXIFICATION`, `GOBP_CARBOHYDRATE_METABOLIC_PROCESS`, `GOBP_ORGANIC_ACID_METABOLIC_PROCESS`, `REACTOME_GLUTATHIONE_CONJUGATION`, `GOBP_GLUTATHIONE_METABOLIC_PROCESS`

**GO Biological Process (5):**
glutathione metabolic process (GO:0006749), xenobiotic metabolic process (GO:0006805), L-ascorbic acid metabolic process (GO:0019852), cellular response to arsenic-containing substance (GO:0071243), cellular oxidant detoxification (GO:0098869)

**GO Molecular Function (7):**
glutathione transferase activity (GO:0004364), oxidoreductase activity (GO:0016491), identical protein binding (GO:0042802), glutathione dehydrogenase (ascorbate) activity (GO:0045174), methylarsonate reductase activity (GO:0050610), protein binding (GO:0005515), transferase activity (GO:0016740)

**GO Cellular Component (3):**
cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)

#### Reactome top-level categories

5 top-level categories:

| Category | Pathways |
| --- | --- |
| Metabolism | 2 |
| Phase II - Conjugation of compounds | 1 |
| Metabolism of water-soluble vitamins and cofactors | 1 |
| Biological oxidations | 1 |
| Metabolism of vitamins and cofactors | 1 |

#### GO top-level categories

22 GO namespaces:

| Category | Terms |
| --- | --- |
| catalytic activity | 2 |
| cellular anatomical structure | 2 |
| modified amino acid metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| monosaccharide metabolic process | 1 |
| carboxylic acid metabolic process | 1 |
| lactone metabolic process | 1 |
| response to arsenic-containing substance | 1 |
| cellular response to chemical stimulus | 1 |
| cellular detoxification | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| protein binding | 1 |
| glutathione disulfide oxidoreductase activity | 1 |
| antioxidant activity | 1 |
| oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor | 1 |
| oxidoreductase activity, acting on phosphorus or arsenic in donors, disulfide as acceptor | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |

#### Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 15 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

| GO term | NS | Evidence |
| --- | --- | --- |
| [L-ascorbic acid metabolic process](https://amigo.geneontology.org/amigo/term/GO:0019852) | BP | direct assay |
| [cellular response to arsenic-containing substance](https://amigo.geneontology.org/amigo/term/GO:0071243) | BP | direct assay |
| [xenobiotic metabolic process](https://amigo.geneontology.org/amigo/term/GO:0006805) | BP | direct assay |
| [extracellular exosome](https://amigo.geneontology.org/amigo/term/GO:0070062) | CC | high-throughput assay |
| [glutathione dehydrogenase (ascorbate) activity](https://amigo.geneontology.org/amigo/term/GO:0045174) | MF | direct assay |
| [identical protein binding](https://amigo.geneontology.org/amigo/term/GO:0042802) | MF | physical interaction |
| [oxidoreductase activity](https://amigo.geneontology.org/amigo/term/GO:0016491) | MF | direct assay |

### Protein interactions and networks

#### STRING

showing 15 of 1,410 interactions by confidence (×1000):

| Protein A | Protein B | Partner UniProt | Score |
| --- | --- | --- | --- |
| GSTO2 | HPGDS | O60760 | 793 |
| GSTO2 | GLRX | P35754 | 681 |
| GSTO2 | GSTP1 | P09211 | 660 |
| GSTO2 | GSTM1 | P09488 | 647 |
| GSTO2 | SLCO6A1 | Q86UG4 | 639 |
| GSTO2 | GSTA1 | P08263 | 628 |
| GSTO2 | AS3MT | Q9HBK9 | 593 |
| GSTO2 | GSTT2B | P0CG30 | 572 |
| GSTO2 | MGST1 | P10620 | 570 |
| GSTO2 | GSTK1 | Q9Y2Q3 | 567 |
| GSTO2 | GSTM5 | P46439 | 562 |
| GSTO2 | GSTM2 | P28161 | 542 |
| GSTO2 | GSTA3 | Q16772 | 537 |
| GSTO2 | GSTM3 | P21266 | 529 |
| GSTO2 | CYP46A1 | Q9Y6A2 | 488 |

#### IntAct

Human interaction partners of GSTO2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

13 partners by confidence:

| Partner | Interaction type | MIscore | Records |
| --- | --- | --- | --- |
| TFAP2A | physical association | 0.720 | 10 |
| GCA | physical association | 0.560 | 3 |
| HOXC8 | physical association | 0.560 | 3 |
| INCA1 | physical association | 0.560 | 3 |
| KLHL10 | physical association | 0.560 | 3 |
| MUM1 | physical association | 0.560 | 3 |
| NTAQ1 | physical association | 0.560 | 3 |
| PFDN5 | physical association | 0.560 | 3 |
| POLR1C | physical association | 0.560 | 3 |
| SMARCC1 | physical association | 0.560 | 3 |
| SAV1 | physical association | 0.370 | 1 |
| GPX4 | association | 0.350 | 1 |
| GSTO1 | association | 0.350 | 1 |

**BioGRID (35 interactions; top human partners by supporting records):** TFAP2A (Two-hybrid; 3 records), C10orf88 (Affinity Capture-MS; 2 records), EDRF1 (Affinity Capture-MS; 2 records), RBM12 (Affinity Capture-MS; 2 records), AGO2 (Affinity Capture-RNA), CNDP2 (Co-fractionation), CREBBP (Two-hybrid), FKBP1A (Co-fractionation), GCA (Two-hybrid), GPX4 (Affinity Capture-MS), GSTO1 (Affinity Capture-MS), HINT1 (Co-fractionation), HOXC8 (Two-hybrid), INCA1 (Two-hybrid), IQCF5 (Cross-Linking-MS (XL-MS))

## Disease & clinical

### Genetic variants

**Variant evidence for GSTO2:** [37 ClinVar records](#clinvar) (0 pathogenic / likely pathogenic); [1 GWAS association](#gwas-assoc).

#### ClinVar

37 variants total. Per-class counts are floors (≥ shown; pagination cap):

| Classification | Count (floor) |
| --- | --- |
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 1 |
| Benign | 0 |

#### SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 736):

| Position(s) | Effect | Δscore | Sites |
| --- | --- | --- | --- |
| 10:104269303 | donor_gain | 1.0000 |  |
| 10:104275212–104275213 | acceptor_gain | 1.0000 | 2 |
| 10:104277883 | acceptor_gain | 1.0000 |  |
| 10:104277892 | acceptor_gain | 1.0000 |  |
| 10:104275216 | acceptor_gain | 0.9900 |  |
| 10:104275224–104275225 | acceptor_loss | 0.9900 | 6 |
| 10:104275335–104275336 | donor_loss | 0.9900 | 5 |
| 10:104277892–104277893 | acceptor_loss | 0.9900 | 4 |
| 10:104269270–104269271 | donor_loss | 0.9800 | 5 |
| 10:104277893 | acceptor_loss | 0.9800 |  |

#### AlphaMissense

460 missense substitutions predicted likely pathogenic (of 1,601 scored), across 133 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
| --- | --- | --- | --- |
| D175 | 8 | 0.929 | 0.956 |
| W62 | 7 | 0.942 | 0.989 |
| F31 | 7 | 0.924 | 0.984 |
| F226 | 7 | 0.887 | 0.983 |
| W203 | 7 | 0.882 | 0.954 |
| W179 | 7 | 0.873 | 0.976 |
| R37 | 7 | 0.863 | 0.966 |
| W181 | 7 | 0.839 | 0.970 |
| F165 | 7 | 0.815 | 0.969 |
| C32 | 7 | 0.814 | 0.956 |
| D239 | 7 | 0.786 | 0.850 |
| K45 | 6 | 0.934 | 0.979 |
| E76 | 6 | 0.885 | 0.941 |
| P180 | 6 | 0.841 | 0.935 |
| P73 | 6 | 0.832 | 0.931 |
| P60 | 6 | 0.826 | 0.941 |
| M207 | 6 | 0.816 | 0.866 |
| E183 | 6 | 0.790 | 0.861 |
| M29 | 6 | 0.779 | 0.933 |
| K59 | 6 | 0.777 | 0.954 |

### HPA cancer prognostics

**RNA cancer specificity:** Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

| Cancer | Prognostic | p-value |
| --- | --- | --- |
| Kidney Renal Papillary Cell Carcinoma (TCGA) | favorable | 9.01e-05 |

### Disease associations

**OMIM:** gene `MIM:612314` | disease phenotypes: 

#### GWAS associations

1 associations:

| Study | Trait | p-value |
| --- | --- | --- |
| GCST012489_83 | Heel bone mineral density x serum urate levels interaction | 4e-8 |

#### EFO canonical traits (from GWAS)

2 canonical traits:

| EFO ID | Trait name |
| --- | --- |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |

## Drugs & pharmacology

### Drug and pharmacology data

**Is drug target: yes**

**ChEMBL targets (1):** CHEMBL2161 (SINGLE PROTEIN)

**PharmGKB:** 1 entry (CPIC guideline: no)

#### CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

| Chemical | Actions (top 5) | PubMed papers |
| --- | --- | --- |
| Arsenic | increases expression, affects metabolic processing, affects reaction, affects response to substance, increases metabolic processing (+3 more) | 8 |
| sodium arsenite | increases abundance, increases expression, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| fluorene-9-bisphenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | increases expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| flutriafol | decreases reaction, increases expression | 1 |
| jinfukang | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic Trioxide | increases abundance, increases expression | 1 |
| Acetylcysteine | increases expression, decreases reaction | 1 |
| Amiodarone | increases expression | 1 |
| Cacodylic Acid | affects abundance, affects metabolic processing | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Environmental Pollutants | affects response to substance | 1 |
| Estradiol | affects 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 |
| --- | --- | --- | --- |
| CHEMBL1743233 | ADMET | Substrates for human cytosolic glutathione transferase GSTO2 | Casarett and Doull's Toxicology The Basic Science of Poisons, 7th edition |

#### Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

## Related Atlas pages

*No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.*