GSTO2

gene
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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 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 37 total
  • Druggable target: yes
  • MANE Select transcript: NM_183239

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23064
Approved symbolGSTO2
Nameglutathione S-transferase omega 2
Location10q25.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000065621
Ensembl biotypeprotein_coding
OMIM612314
Entrez119391

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000338595, ENST00000369707, ENST00000450629, ENST00000467629, ENST00000473401, ENST00000477078, ENST00000498052, ENST00000912037, ENST00000912038, ENST00000912039

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

ExonStartEnd
ENSE00001388955104274685104274949
ENSE00001601180104275226104275334
ENSE00003327182104269184104269269
ENSE00003632446104299128104304950
ENSE00003654920104297578104297684
ENSE00003666141104277894104278116
ENSE00003674529104279370104279471

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.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
1068836.58461005
1068823.9498766
1068801.1455711
1068810.078121
1068790.04463
1068780.02429

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
body of pancreasUBERON:000115093.05gold quality
upper arm skinUBERON:000426392.41gold quality
pancreasUBERON:000126491.37gold quality
islet of LangerhansUBERON:000000691.29gold quality
skin of abdomenUBERON:000141691.26gold quality
right testisUBERON:000453491.22gold quality
right uterine tubeUBERON:000130291.11gold quality
left testisUBERON:000453391.04gold quality
skin of legUBERON:000151190.59gold quality
adenohypophysisUBERON:000219690.49gold quality
pituitary glandUBERON:000000790.18gold quality
zone of skinUBERON:000001489.98gold quality
testisUBERON:000047388.69gold quality
pancreatic ductal cellCL:000207988.20silver quality
ileal mucosaUBERON:000033187.91gold quality
upper leg skinUBERON:000426287.44gold quality
spermCL:000001987.33gold quality
esophagus mucosaUBERON:000246986.98gold quality
metanephros cortexUBERON:001053386.27gold quality
corpus epididymisUBERON:000435986.11gold quality
right lobe of thyroid glandUBERON:000111985.99gold quality
left lobe of thyroid glandUBERON:000112085.73gold quality
thyroid glandUBERON:000204685.54gold quality
mucosa of transverse colonUBERON:000499185.17gold quality
prostate glandUBERON:000236785.00gold quality
minor salivary glandUBERON:000183084.95gold quality
adult organismUBERON:000702384.85gold quality
rectumUBERON:000105284.57gold quality
mouth mucosaUBERON:000372984.26gold quality
skin of hipUBERON:000155484.14gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes8.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting GSTO2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-335-3P99.9373.364958
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-7152-5P99.6069.332094
HSA-MIR-465199.0667.572002
HSA-MIR-60898.9367.832013
HSA-MIR-218-1-3P98.6367.97832
HSA-MIR-4700-5P98.6367.431915
HSA-MIR-808997.7466.211698
HSA-MIR-4667-5P97.6166.671683
HSA-MIR-447195.1166.84755
HSA-MIR-805995.1166.30646
HSA-MIR-2277-3P91.9462.27299

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

OrganismSymbolGene ID
danio_reriogstrENSDARG00000042620
danio_reriogstt2ENSDARG00000095464
mus_musculusGsto2ENSMUSG00000025069
rattus_norvegicusGsto2ENSRNOG00000069697
drosophila_melanogasterGstD1FBGN0001149
drosophila_melanogasterGstD2FBGN0010038
drosophila_melanogasterGstD3FBGN0010039
drosophila_melanogasterGstD4FBGN0010040
drosophila_melanogasterGstD5FBGN0010041
drosophila_melanogasterGstD6FBGN0010042
drosophila_melanogasterGstD7FBGN0010043
drosophila_melanogasterGstD8FBGN0010044
drosophila_melanogasterGstE12FBGN0027590
drosophila_melanogasterClicFBGN0030529
drosophila_melanogasterGstT3FBGN0031117
drosophila_melanogasterGstE13FBGN0033381
drosophila_melanogasterGstE1FBGN0034335
drosophila_melanogasterGstE11FBGN0034354
drosophila_melanogasterGstO3FBGN0035904
drosophila_melanogasterGstO2FBGN0035906
drosophila_melanogasterGstO1FBGN0035907
drosophila_melanogasterGstD9FBGN0038020
drosophila_melanogasterGstD10FBGN0042206
drosophila_melanogasterGstT1FBGN0050000
drosophila_melanogasterGstT2FBGN0050005
drosophila_melanogasterGstE9FBGN0063491
drosophila_melanogasterGstE8FBGN0063492
drosophila_melanogasterGstE7FBGN0063493
drosophila_melanogasterGstE6FBGN0063494
drosophila_melanogasterGstE5FBGN0063495
drosophila_melanogasterGstE4FBGN0063496
drosophila_melanogasterGstE3FBGN0063497
drosophila_melanogasterGstE2FBGN0063498
drosophila_melanogasterGstE10FBGN0063499
drosophila_melanogasterseFBGN0086348
caenorhabditis_elegansexc-4WBGENE00001365
caenorhabditis_elegansWBGENE00001371
caenorhabditis_elegansgst-43WBGENE00001791
caenorhabditis_elegansWBGENE00001792
caenorhabditis_elegansWBGENE00015337
caenorhabditis_elegansWBGENE00021817
caenorhabditis_elegansWBGENE00043097

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)

Protein

Protein identifiers

Glutathione S-transferase omega-2Q9H4Y5 (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 →

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 IDNamesCanonical?
Q9H4Y5-11yes
Q9H4Y5-22
Q9H4Y5-33

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

Domains & families (InterPro)

IDNameType
IPR004045Glutathione_S-Trfase_NDomain
IPR005442GST_omegaFamily
IPR010987Glutathione-S-Trfase_C-likeDomain
IPR036249Thioredoxin-like_sfHomologous_superfamily
IPR036282Glutathione-S-Trfase_C_sfHomologous_superfamily
IPR040079Glutathione_S-TrfaseFamily
IPR050983GST_Omega/HSP26Family

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.

SubstrateKm (mM)Measurements
1-CHLORO-2,4-DINITROBENZENE0.0003–223.6289
GLUTATHIONE0.0002–532.43253
DEHYDROASCORBATE0.019–2.573
GSH0.0003–37.462
GLUTATHIONE0.04–12.7142
REDUCED GLUTATHIONE0.017–11.424
ETHACRYNIC ACID0.0001–2.4319
GSH0.69–5.217
CUMENE HYDROPEROXIDE0.038–14.310
(+)-2-BROMO-3-(4-NITROPHENYL)PROPANOIC ACID0.023–0.4178
MONOCHLOROBIMANE0.004–0.258
4-CHLORO-7-NITROBENZO-2-OXA-1,3-DIAZOLE0.324–3.8667
1-IODOHEXANE0.009–0.0596
ALACHLOR0.042–7.236
PHENETHYL ISOTHIOCYANATE0.0065–0.146

Catalyzed reactions (Rhea), 3 shown:

  • 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 (33 total): helix 13, 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.

PDBMethodResolution (Å)
3Q18X-RAY DIFFRACTION1.7
3Q19X-RAY DIFFRACTION1.9
3QAGX-RAY DIFFRACTION2

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9H4Y5-F197.330.98

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): 32 (nucleophile)

Ligand- & substrate-binding residues (3): 59; 72; 85–86

Mutagenesis-validated functional residues (1):

PositionPhenotype
34abolishes dhar activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-156590Glutathione conjugation
R-HSA-196836Vitamin 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

Rollup of top-2 pathways:

CategoryPathways
Phase II - Conjugation of compounds1
Metabolism of water-soluble vitamins and cofactors1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
catalytic activity2
cellular anatomical structure2
modified amino acid metabolic process1
sulfur compound metabolic process1
metabolic process1
cellular response to xenobiotic stimulus1
monosaccharide metabolic process1
carboxylic acid metabolic process1
lactone metabolic process1
response to arsenic-containing substance1
cellular response to chemical stimulus1
cellular detoxification1
transferase activity, transferring alkyl or aryl (other than methyl) groups1
protein binding1
glutathione disulfide oxidoreductase activity1
antioxidant activity1
oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor1
oxidoreductase activity, acting on phosphorus or arsenic in donors, disulfide as acceptor1
binding1
intracellular anatomical structure1
cytoplasm1
extracellular vesicle1

Protein interactions and networks

STRING

1438 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GSTO2HPGDSO60760812
GSTO2GSTP1P09211786
GSTO2GSTK1Q9Y2Q3752
GSTO2GSTT2BP0CG30741
GSTO2GLRXP35754741
GSTO2GSTM1P09488669
GSTO2SLCO6A1Q86UG4663
GSTO2GSTA1P08263622
GSTO2AS3MTQ9HBK9620
GSTO2GSRP00390583
GSTO2GSTM2P28161566
GSTO2GSTA3Q16772530
GSTO2GSTM3P21266530
GSTO2GSTM5P46439507
GSTO2GAKO14976503

IntAct

49 interactions, top by confidence:

ABTypeScore
TFAP2AGSTO2psi-mi:“MI:0915”(physical association)0.720
GSTO2TFAP2Apsi-mi:“MI:0915”(physical association)0.670
GSTO2GSTO2psi-mi:“MI:0915”(physical association)0.670
TFAP2AGSTO2psi-mi:“MI:0915”(physical association)0.670
GSTO2MUM1psi-mi:“MI:0915”(physical association)0.560
MUM1GSTO2psi-mi:“MI:0915”(physical association)0.560
KLHL10GSTO2psi-mi:“MI:0915”(physical association)0.560
POLR1CGSTO2psi-mi:“MI:0915”(physical association)0.560
INCA1GSTO2psi-mi:“MI:0915”(physical association)0.560
PFDN5GSTO2psi-mi:“MI:0915”(physical association)0.560
NTAQ1GSTO2psi-mi:“MI:0915”(physical association)0.560
GCAGSTO2psi-mi:“MI:0915”(physical association)0.560
HOXC8GSTO2psi-mi:“MI:0915”(physical association)0.560
SMARCC1GSTO2psi-mi:“MI:0915”(physical association)0.560
SAV1GSTO2psi-mi:“MI:0915”(physical association)0.370
GSTO2GPX4psi-mi:“MI:0914”(association)0.350
GSTO2GSTO1psi-mi:“MI:0914”(association)0.350
TFAP2AGSTO2psi-mi:“MI:0915”(physical association)0.000
KLHL10GSTO2psi-mi:“MI:0915”(physical association)0.000
GSTO2GSTO2psi-mi:“MI:0915”(physical association)0.000

BioGRID (34): GSTO2 (Two-hybrid), GSTO2 (Two-hybrid), GSTO2 (Two-hybrid), CNDP2 (Co-fractionation), FKBP1A (Co-fractionation), GSTO2 (Co-fractionation), TAGLN2 (Co-fractionation), TXN (Co-fractionation), WDR1 (Co-fractionation), GSTO2 (Two-hybrid), EDRF1 (Affinity Capture-MS), RBM12 (Affinity Capture-MS), C10orf88 (Affinity Capture-MS), GPX4 (Affinity Capture-MS), GSTO2 (Two-hybrid)

ESM2 similar proteins: A4FUF0, A5HK05, B0K012, O43324, O43929, O75431, O94955, O95453, P20135, P42694, P47802, P69341, P70102, P78417, Q2L969, Q3U2J5, Q3UFS0, Q49A26, Q4R8V9, Q562D5, Q5R6Z7, Q5R7T2, Q5RC51, Q5RDU9, Q5RKH0, Q5ZIA0, Q5ZLS2, Q5ZLS7, Q6AXV9, Q6DC64, Q6DFV5, Q6GR37, Q6NYU2, Q7SXV1, Q7Z624, Q8IX04, Q8K2D3, Q8K2Q2, Q8R5L3, Q8VE33

Diamond homologs: A8XT16, O09131, P30347, P34277, P34345, P49248, P78417, P81124, Q10N44, Q6AXV9, Q8K2Q2, Q9H4Y5, Q9N1F5, Q9VSL3, Q9Z339, A2XMN2, O43708, P0ACA1, P0ACA2, P28342, P32111, P45207, P46421, Q10CE7, Q65XA0, Q7VLK4, Q8L7C9, Q8LE52, Q9CA57, Q9FWR4, Q9LZ06, Q9WVL0, Q9ZW27, Q9ZW28, Q9ZW29, Q9ZW30, F4IA73, O04437, O86043, P25317

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance31
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1243 predictions. Top by Δscore:

VariantEffectΔscore
10:104269303:G:Tdonor_gain1.0000
10:104275211:A:AGacceptor_gain1.0000
10:104275211:ATC:Aacceptor_gain1.0000
10:104275212:T:Gacceptor_gain1.0000
10:104275213:C:CAacceptor_gain1.0000
10:104277883:T:TAacceptor_gain1.0000
10:104277889:TTAAG:Tacceptor_loss1.0000
10:104277891:A:AGacceptor_gain1.0000
10:104277892:A:Gacceptor_gain1.0000
10:104277893:G:GAacceptor_gain1.0000
10:104277893:GA:Gacceptor_gain1.0000
10:104277893:GAC:Gacceptor_gain1.0000
10:104277893:GACAT:Gacceptor_gain1.0000
10:104297682:G:GTdonor_gain1.0000
10:104297682:GGA:Gdonor_gain1.0000
10:104297683:GAG:Gdonor_gain1.0000
10:104297685:G:GGdonor_gain1.0000
10:104269236:G:GTdonor_gain0.9900
10:104269309:GGGTT:Gdonor_gain0.9900
10:104275216:T:TAacceptor_gain0.9900
10:104275221:T:TAacceptor_gain0.9900
10:104275222:GCAG:Gacceptor_loss0.9900
10:104275224:A:ACacceptor_loss0.9900
10:104275224:A:AGacceptor_gain0.9900
10:104275224:AG:Aacceptor_gain0.9900
10:104275225:G:Aacceptor_loss0.9900
10:104275225:G:GAacceptor_gain0.9900
10:104275225:GG:Gacceptor_gain0.9900
10:104275225:GGA:Gacceptor_gain0.9900
10:104275225:GGAA:Gacceptor_gain0.9900

AlphaMissense

1601 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:104277934:T:AW62R0.989
10:104277934:T:CW62R0.989
10:104275282:T:CF31L0.984
10:104275284:C:AF31L0.984
10:104275284:C:GF31L0.984
10:104299228:T:CF226L0.983
10:104299230:C:AF226L0.983
10:104299230:C:GF226L0.983
10:104275273:A:CS28R0.979
10:104275275:C:AS28R0.979
10:104275275:C:GS28R0.979
10:104275325:A:TK45I0.979
10:104275326:A:CK45N0.976
10:104275326:A:TK45N0.976
10:104297644:T:AW179R0.976
10:104297644:T:CW179R0.976
10:104277936:G:CW62C0.971
10:104277936:G:TW62C0.971
10:104277971:T:AV74D0.970
10:104297650:T:AW181R0.970
10:104297650:T:CW181R0.970
10:104275313:T:AV41D0.969
10:104275316:T:AL42H0.969
10:104297602:T:CF165L0.969
10:104297604:C:AF165L0.969
10:104297604:C:GF165L0.969
10:104275302:G:CR37S0.966
10:104275302:G:TR37S0.966
10:104278024:T:GY92D0.966
10:104275265:G:CR25P0.965

dbSNP variants (sampled 300 via entrez): RS1000046388 (10:104300331 C>T), RS1000148362 (10:104275765 C>G), RS1000161384 (10:104281877 C>A), RS1000304365 (10:104282566 AAAG>A,AAAGAAG), RS1000323864 (10:104275583 G>A,T), RS1000522953 (10:104296306 T>C), RS1000585710 (10:104295588 C>T), RS1000641132 (10:104282074 G>A,C), RS1000790466 (10:104288855 A>G), RS1000827858 (10:104289418 C>T), RS1000877182 (10:104269266 A>C), RS1000980430 (10:104271162 T>C), RS1001103412 (10:104302534 A>G), RS1001121247 (10:104283254 G>A), RS1001134046 (10:104302340 TAAA>T,TAAAA)

Disease associations

OMIM: gene MIM:612314 | 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):

StudyTraitp-value
GCST012489_155Heel bone mineral density x serum urate levels interaction4.000000e-08

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004531urate measurement
EFO:0009270heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2161 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Arsenicaffects reaction, affects response to substance, increases metabolic processing, increases expression, affects abundance (+3 more)8
sodium arsenitedecreases expression, increases abundance, increases expression2
Benzo(a)pyreneaffects methylation, decreases expression, increases methylation2
Tetrachlorodibenzodioxindecreases expression2
Valproic Acidaffects expression, increases expression2
fluorene-9-bisphenoldecreases expression1
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
pirinixic acidaffects binding, decreases expression, increases activity1
sodium arsenateincreases abundance, increases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
di-n-butylphosphoric acidaffects expression1
benzyloxycarbonylleucyl-leucyl-leucine aldehydeincreases expression1
entinostatincreases expression1
K 7174decreases expression1
ICG 001increases expression1
abrinedecreases expression1
flutriafoldecreases reaction, increases expression1
jinfukangincreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Decitabineaffects expression1
Arsenic Trioxideincreases abundance, increases expression1
Acetylcysteineincreases expression, decreases reaction1
Amiodaroneincreases expression1
Cacodylic Acidaffects abundance, affects metabolic processing1
Carbamazepineaffects expression1
Cisplatinaffects expression1
Diethylhexyl Phthalatedecreases expression1
Environmental Pollutantsaffects response to substance1
Estradiolaffects expression1

ChEMBL screening assays

1 unique, capped per target: 1 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1743233ADMETSubstrates for human cytosolic glutathione transferase GSTO2Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

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