GPX3

Summary

GPX3 (glutathione peroxidase 3, HGNC:4555) is a protein-coding gene on chromosome 5q33.1, encoding Glutathione peroxidase 3 (P22352). Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione.

The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3’ UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 2878 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_002084

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4555
Approved symbol	GPX3
Name	glutathione peroxidase 3
Location	5q33.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000211445
Ensembl biotype	protein_coding
OMIM	138321
Entrez	2878

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined, 1 TEC

ENST00000388825, ENST00000517973, ENST00000519214, ENST00000520059, ENST00000520597, ENST00000521632, ENST00000521650, ENST00000521722, ENST00000625178

RefSeq mRNA: 2 — MANE Select: NM_002084 NM_001329790, NM_002084

CCDS: CCDS43389

Canonical transcript exons

ENST00000388825 — 5 exons

Exon	Start	End
ENSE00001504048	151027909	151028988
ENSE00002107942	151020591	151020741
ENSE00003651491	151026900	151027017
ENSE00003670314	151027432	151027531
ENSE00003675685	151025340	151025493

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 99.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 92.8142 / max 12283.6297, expressed in 1415 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59529	92.1006	1415
59533	0.2845	108
59531	0.1289	63
59534	0.0881	39
59535	0.0548	29
59539	0.0477	22
59530	0.0365	16
203745	0.0259	11
59532	0.0250	9
59538	0.0222	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.99	gold quality
right lobe of thyroid gland	UBERON:0001119	99.96	gold quality
left lobe of thyroid gland	UBERON:0001120	99.96	gold quality
right lung	UBERON:0002167	99.96	gold quality
mucosa of stomach	UBERON:0001199	99.95	gold quality
adult mammalian kidney	UBERON:0000082	99.93	gold quality
lower lobe of lung	UBERON:0008949	99.93	gold quality
thyroid gland	UBERON:0002046	99.92	gold quality
pericardium	UBERON:0002407	99.92	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.89	gold quality
upper lobe of lung	UBERON:0008948	99.89	gold quality
upper lobe of left lung	UBERON:0008952	99.89	gold quality
omental fat pad	UBERON:0010414	99.89	gold quality
peritoneum	UBERON:0002358	99.88	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.88	gold quality
cardiac atrium	UBERON:0002081	99.87	gold quality
right atrium auricular region	UBERON:0006631	99.87	gold quality
tibial nerve	UBERON:0001323	99.80	gold quality
right coronary artery	UBERON:0001625	99.80	gold quality
left coronary artery	UBERON:0001626	99.80	gold quality
metanephric glomerulus	UBERON:0004736	99.80	gold quality
coronary artery	UBERON:0001621	99.79	gold quality
left ventricle myocardium	UBERON:0006566	99.79	gold quality
renal glomerulus	UBERON:0000074	99.77	gold quality
synovial joint	UBERON:0002217	99.77	gold quality
kidney epithelium	UBERON:0004819	99.77	gold quality
renal medulla	UBERON:0000362	99.75	gold quality
left uterine tube	UBERON:0001303	99.75	gold quality
popliteal artery	UBERON:0002250	99.73	gold quality
tibial artery	UBERON:0007610	99.73	gold quality

Single-cell (SCXA)

Detected in 35 experiment(s), a significant marker in 34.

Experiment	Marker?	Max mean expression
E-HCAD-24	yes	19943.96
E-MTAB-7316	yes	15172.43
E-GEOD-98556	yes	9835.93
E-CURD-126	yes	9379.85
E-GEOD-137537	yes	8881.26
E-MTAB-6678	yes	8603.86
E-MTAB-6701	yes	8319.31
E-MTAB-9543	yes	7461.34
E-HCAD-23	yes	5275.46
E-MTAB-8495	yes	3694.08
E-CURD-114	yes	3251.46
E-GEOD-131882	yes	2884.03
E-HCAD-15	yes	2874.98
E-HCAD-10	yes	2527.37
E-ENAD-27	yes	2501.05

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR2, HIF1A, PPARG, SREBF1

Literature-anchored findings (GeneRIF, showing 40)

• REVIEW: The role of low levels of the serum glutathione-dependent peroxidase and glutathione and high levels of serum homocysteine in the development of cardiovascular disease. (PMID:11934214)
• Increased erythrocyte glutathione peroxidase activity and serum TNFalpha in HIV-infected patients is related to pathogenesis of HIV infection and the hypercoagulable condition during HIV infection. (PMID:11983108)
• in healthy subjects the seminal plasma activity is about 10 times greater than in infertile males (PMID:12553559)
• a pilot study by analyzing 8 exudative ARMD patients for allelic variations in the GPX gene and three statistically significant mutations in the ABCR gene (R943Q, G1961E and D2177N) (PMID:15375613)
• The high frequency of promoter hypermethylation and progressive loss of GPx3 expression in Barrett’s adenocarcinomas suggest that epigenetic inactivation may be critical in the development and progression of Barrett’s esophagus. (PMID:16229808)
• There was no correlation between plasma GSH-Px and hair Se levels in the patient and control groups. These results revealed a decreased hair Se level and impaired antioxidative capacity in children with CRI on CAPD and HD (PMID:16937131)
• A novel GPx-3 promoter haplotype is an independent risk factor for AIS in children and young adults. This haplotype reduces the gene’s transcriptional activity, thereby compromising gene expression and plasma antioxidant and antithrombotic activities. (PMID:17122425)
• GPx3 is a novel tumor suppressor gene. (PMID:17804715)
• GPx3 mRNA was exclusively localized to the thyrocytes, showed the highest expression levels and was down-regulated in 5 of 6 thyroid cancer samples as compared to matched normal controls (PMID:17937619)
• novel GPx-3 promoter haplotype is a strong, independent risk factor for cerebral venous thrombosis (PMID:18096833)
• No significant risk for GPX3 in colorectal adenoma. (PMID:18483336)
• The antioxidant effect of PPARgamma is exclusively mediated by GPx3 and further imply that GPx3 may be a therapeutic target for insulin resistance and diabetes mellitus. (PMID:18936159)
• GPX3 may be a candidate gene associated with the low cisplatin sensitivity of clear cell adenocarcinoma (PMID:19020706)
• G allele of rs3805435 or the T allele of rs3828599 of GPX3 may exert a protective effect, whereas the C allele of rs8177412 confers an increased risk effect for DTC (PMID:19375609)
• upregulated in vascular endothelial cells by proteasome inhibitors (PMID:19766714)
• down-regulated KLF4, CHGA,GPX3, SST and LIPF, together with up-regulated SERPINH1, THY1 and INHBA is an 8-gene signature for gastric cancer (PMID:20043075)
• We have shown highly significant reductions in expression of all three major classes of GPx in placentae from women with preeclampsia. (PMID:20303587)
• The intronic SNPs at GPX3 can influence gene expression leading to an alteration of gastric cancer risk. (PMID:20576521)
• GPX3 protein expression was significantly lower in esophageal squamous cell carcinoma than in adjacent nontumor tissues. In esophageal squamous cell carcinoma, GPX3 was downregulated through promoter hypermethylation. (PMID:20725785)
• GPX3 overexpression was found in clear cell type ovarian adenocarcinoma compared with normal ovary and 3 other subtypes of epithelial ovarian cancer at mRNA level. (PMID:20730571)
• Genetic variants of GPX3 are risk factors for arterial stroke, but not for thromboembolic arterial ischemic stroke or cerebral sinovenous thrombosis in children. (PMID:20946167)
• GPx3 may have a possible role in modulating prostate carcinogenesis. (PMID:21374652)
• GPx3 methylation may have implications in chemotherapy response and clinical outcome of head and neck cancer patients (PMID:21684681)
• The polymorphism of rs3828599 of GPx-3 gene might be associated with hypertension in rural Han Chinese from Fuxin, Liaoning. (PMID:21933611)
• a novel signaling pathway of GPx3-PIG3 in the regulation of cell death in prostate cancer. (PMID:22461624)
• In human primary acute myeloid leukemia samples, GPX3 expression level directly correlated with adverse prognostic outcome and positively correlated with the frequency of leukemia stem cells (LSCs). (PMID:22508837)
• Selenium, selenoenzymes, oxidative stress and risk of neoplastic progression from Barrett’s esophagus: results from biomarkers and genetic variants. (PMID:22715394)
• determination of GPx3 levels in overweight and obese subjects from central Mexico (PMID:22981671)
• dysfunction of GPX3 in gastric cancer is mediated by genetic and epigenetic alterations, suggesting impairment of mechanisms that regulate ROS and its possible involvement in gastric tumorigenesis and metastasis (PMID:23071548)
• Knockdown of Gpx3 using short interfering RNA induced elevation in reactive oxygen species and cell death. (PMID:23132926)
• The Gpx3 protein levels were lower in the sera of the patients with amyotrophic lateral sclerosis than in other diseases. (PMID:23436019)
• GPX1 and GPX3 differences may be associated with alterations in antioxidant capacity and redox regulation (PMID:23837478)
• Exposure to follicular fluid transiently increased the transcript levels of IL8 and PTGS2, and decreased the expression of SOD2, GPX3, DAB2, and NR3C1. TNF and IL6 levels were also decreased while those of NAMPT were unaffected. (PMID:24186266)
• RUNX2 and GPX3 are candidate genetic markers in the monitoring of embryo quality for PCOS patients. (PMID:24279306)
• Myomectomy increases endometrial GPX3 expression after 3 months in women with myoma and infertility. (PMID:24518545)
• Our results indicate that promoter methylation is one of the major causes of GPX3 downregulation in cervical cancer and GPX3 could serve as a predictive biomarker for lymph node metastasis and prognosis of cervical cancer. (PMID:24788695)
• Serum levels of GPx3 are increased in subjects with metabolic syndrome and that rs8177409 SNP was associated with cardiovascular risk in a Mexican population. (PMID:24819036)
• APOA1 and GPX3 mRNA levels on qRT-PCR effectively differentiate ovarian from breast carcinoma. (PMID:24926085)
• The T allele of -861A/T in GPX3 gene is a risk allele for the ischemic stroke phenotype. (PMID:25126700)
• GPx3 is a tumor suppressor gene in HCC. (PMID:25333265)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpx1b	ENSDARG00000006207
danio_rerio	gpx1a	ENSDARG00000018146
danio_rerio	gpx3	ENSDARG00000043342
danio_rerio	gpx4a	ENSDARG00000068478
mus_musculus	Gpx3	ENSMUSG00000018339
rattus_norvegicus	Gpx3	ENSRNOG00000052564
caenorhabditis_elegans		WBGENE00007516
caenorhabditis_elegans		WBGENE00007517
caenorhabditis_elegans		WBGENE00011045
caenorhabditis_elegans	gpx-8	WBGENE00018850
caenorhabditis_elegans		WBGENE00022377

Paralogs (7): GPX7 (ENSG00000116157), GPX8 (ENSG00000164294), GPX4 (ENSG00000167468), GPX2 (ENSG00000176153), GPX6 (ENSG00000198704), GPX5 (ENSG00000224586), GPX1 (ENSG00000233276)

Protein

Protein identifiers

Glutathione peroxidase 3 — P22352 (reviewed: P22352)

Alternative names: Extracellular glutathione peroxidase, Plasma glutathione peroxidase

All UniProt accessions (6): A0A182DWH9, A0A182DWI0, P22352, E5RG32, H0YBE4, H0YC19

UniProt curated annotations — full annotation on UniProt →

Function. Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione.

Subunit / interactions. Homotetramer.

Subcellular location. Secreted.

Tissue specificity. Secreted in plasma.

Post-translational modifications. The N-terminus is blocked.

Similarity. Belongs to the glutathione peroxidase family.

RefSeq proteins (2): NP_001316719, NP_002075* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000889	Glutathione_peroxidase	Family
IPR029759	GPX_AS	Active_site
IPR029760	GPX_CS	Conserved_site
IPR036249	Thioredoxin-like_sf	Homologous_superfamily

Pfam: PF00255

Enzyme classification (BRENDA):

• EC 1.11.1.9 — glutathione peroxidase (BRENDA: 58 organisms, 96 substrates, 65 inhibitors, 63 Km, 23 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
H2O2	0.0023–19.08	19
GSH	0.033–11.1	18
CUMENE HYDROPEROXIDE	0.006–7.8	6
TERT-BUTYL HYDROPEROXIDE	0.059–7.9	6
GLUTATHIONE	0.022–1.73	4
CUMENE PEROXIDE	0.09–0.42	2
L-ALPHA-PHOSPHATIDYLCHOLINE HYDROPEROXIDE	0.026–9.7	2
LINOLENIC ACID HYDROPEROXIDE	0.007–3.8	2
CHOLESTEROL 5ALPHA-HYDROPEROXIDE	0.004	1
CHOLESTEROL 7ALPHA-HYDROPEROXIDE	0.011	1
CHOLESTEROL 7BETA-HYDROPEROXIDE	0.003	1
TERT-BUTYLHYDROPEROXIDE	0.024	1

Catalyzed reactions (Rhea), 2 shown:

• 2 glutathione + H2O2 = glutathione disulfide + 2 H2O (RHEA:16833)
• tert-butyl hydroperoxide + 2 glutathione = tert-butanol + glutathione disulfide + H2O (RHEA:69412)

UniProt features (24 total): strand 9, helix 9, signal peptide 1, chain 1, turn 1, active site 1, non-standard amino acid 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2R37	X-RAY DIFFRACTION	1.85

Predicted structure (AlphaFold)

No AlphaFold model available for P22352 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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): 73

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-3299685	Detoxification of Reactive Oxygen Species

MSigDB gene sets: 296 (showing top): MODULE_93, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GRUETZMANN_PANCREATIC_CANCER_DN, BROWNE_HCMV_INFECTION_8HR_UP, GOBP_HYDROGEN_PEROXIDE_CATABOLIC_PROCESS, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, BROWNE_HCMV_INFECTION_16HR_UP, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, MODULE_66, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, KOKKINAKIS_METHIONINE_DEPRIVATION_96HR_UP, MODULE_75, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, HOSHIDA_LIVER_CANCER_SUBCLASS_S3

GO Biological Process (4): response to lipid hydroperoxide (GO:0006982), hydrogen peroxide catabolic process (GO:0042744), response to oxidative stress (GO:0006979), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (6): glutathione peroxidase activity (GO:0004602), selenium binding (GO:0008430), identical protein binding (GO:0042802), peroxidase activity (GO:0004601), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cellular response to chemical stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to hydroperoxide	1
response to lipid	1
catabolic process	1
hydrogen peroxide metabolic process	1
response to stress	1
cellular detoxification	1
peroxidase activity	1
small molecule binding	1
protein binding	1
antioxidant activity	1
oxidoreductase activity, acting on peroxide as acceptor	1
binding	1
catalytic activity	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

4058 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPX3	GSR	P00390	955
GPX3	TXN	P10599	914
GPX3	SELENOP	P49908	892
GPX3	XDH	P47989	881
GPX3	TXNRD1	Q16881	859
GPX3	F5H3C5	F5H3C5	854
GPX3	SOD2	P04179	854
GPX3	GLRX	P35754	847
GPX3	HMOX1	P09601	837
GPX3	SOD1	P00441	822
GPX3	MSRB1	Q9NZV6	810
GPX3	TXNRD3	Q86VQ6	809
GPX3	H6PD	O95479	802
GPX3	G6PD	P11413	796
GPX3	NFE2L2	Q16236	795

IntAct

14 interactions, top by confidence:

A	B	Type	Score
UBQLN1	GPX3	psi-mi:“MI:0915”(physical association)	0.560
GPX3	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
NOXO1	SOD1	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
GPX3		psi-mi:“MI:0915”(physical association)	0.000
trmFO	GPX3	psi-mi:“MI:0915”(physical association)	0.000
GPX3	ftsY	psi-mi:“MI:0915”(physical association)	0.000
GPX3	livM2	psi-mi:“MI:0915”(physical association)	0.000
fadH	GPX3	psi-mi:“MI:0915”(physical association)	0.000
	GPX3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): UBQLN1 (Two-hybrid), TP53I3 (Two-hybrid), TP53I3 (Affinity Capture-Western), GPX3 (Affinity Capture-Western), GPX3 (Reconstituted Complex), GPX3 (Affinity Capture-MS), GPX3 (Affinity Capture-MS), GPX3 (Co-purification)

ESM2 similar proteins: A5PK19, A6QLU8, D3Z6P0, D3ZAA9, P00435, P04041, P09102, P11352, P11909, P21195, P22352, P23764, P37141, P38660, P46412, P47823, P97346, Q08602, Q13087, Q13144, Q14168, Q148E0, Q15084, Q4AEH3, Q4AEH4, Q4AEH5, Q503L9, Q58E26, Q5CZL1, Q5R6T1, Q5RCH2, Q5RFG3, Q5RGJ5, Q5VZ03, Q63081, Q64350, Q6DKJ4, Q6GM16, Q6IQS6, Q8CHW4

Diamond homologs: A1KV41, A6QLY2, G9JJU2, O02621, O04922, O08368, O18994, O22448, O22850, O23814, O23968, O23970, O24031, O24296, O32770, O46607, O48646, O49069, O59858, O62327, O70325, O75715, P00435, P04041, P06610, P07203, P0A0T4, P0A0T5, P0C2T0, P11352, P11909, P18283, P21765, P22352, P28714, P30708, P30710, P35666, P36014, P36968

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

669 predictions. Top by Δscore:

Variant	Effect	Δscore
5:151020738:GAAG:G	donor_gain	1.0000
5:151020740:AG:A	donor_gain	1.0000
5:151020740:AGG:A	donor_loss	1.0000
5:151020741:GG:G	donor_gain	1.0000
5:151020742:G:GA	donor_loss	1.0000
5:151020742:G:GG	donor_gain	1.0000
5:151025332:T:TA	acceptor_gain	1.0000
5:151025335:TCCA:T	acceptor_loss	1.0000
5:151025337:CAG:C	acceptor_loss	1.0000
5:151025338:A:AG	acceptor_gain	1.0000
5:151025338:AGAT:A	acceptor_gain	1.0000
5:151025338:AGATG:A	acceptor_gain	1.0000
5:151025339:G:GA	acceptor_gain	1.0000
5:151025339:GA:G	acceptor_gain	1.0000
5:151025339:GAT:G	acceptor_gain	1.0000
5:151025339:GATG:G	acceptor_gain	1.0000
5:151025339:GATGG:G	acceptor_gain	1.0000
5:151025490:ATTG:A	donor_gain	1.0000
5:151025491:TTG:T	donor_gain	1.0000
5:151025492:TG:T	donor_gain	1.0000
5:151025493:GG:G	donor_gain	1.0000
5:151025494:G:GA	donor_loss	1.0000
5:151025494:G:GG	donor_gain	1.0000
5:151026892:T:A	acceptor_gain	1.0000
5:151026893:G:A	acceptor_gain	1.0000
5:151026895:CCCA:C	acceptor_loss	1.0000
5:151026898:A:AG	acceptor_gain	1.0000
5:151026898:AGAA:A	acceptor_loss	1.0000
5:151026899:G:GG	acceptor_gain	1.0000
5:151026899:GA:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000129515 (5:151028141 T>A,C), RS1000469429 (5:151019031 A>G), RS1000521136 (5:151019437 C>T), RS1000743591 (5:151021971 G>A), RS1000985869 (5:151025828 A>G), RS1001360670 (5:151022751 G>A), RS1001468619 (5:151029455 A>G), RS1001813255 (5:151022959 A>G), RS1002255760 (5:151024376 C>G,T), RS1002768820 (5:151024046 A>G), RS1003083319 (5:151021593 G>C), RS1003358124 (5:151028407 G>A), RS1003872944 (5:151028082 C>T), RS1005365880 (5:151028959 C>T), RS1005483068 (5:151028776 G>C)

Disease associations

OMIM: gene MIM:138321 | 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
GCST004131_47	Inflammatory bowel disease	3.000000e-15
GCST004132_24	Crohn’s disease	2.000000e-19

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2233302	GPX3, TNIP1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	9
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	8
bisphenol A	affects expression, decreases methylation, increases expression, decreases reaction, increases abundance (+1 more)	5
Aerosols	increases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression	3
Cisplatin	affects response to substance, increases expression, decreases response to substance	3
Dexamethasone	increases expression, affects cotreatment	3
Tetrachlorodibenzodioxin	affects expression, increases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression, affects cotreatment	3
perfluorooctane sulfonic acid	decreases expression, increases expression	2
Decitabine	affects expression, affects methylation, increases expression, increases reaction	2
Acetaminophen	increases reaction, decreases reaction, decreases activity, increases expression	2
Ethanol	affects cotreatment, increases abundance, increases expression, increases reaction	2
Paraquat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Sodium Selenite	decreases reaction, increases activity, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression, affects cotreatment	1
ginger extract	increases abundance, increases expression, decreases reaction	1
bismuth tripotassium dicitrate	decreases expression	1
methylmercuric chloride	increases expression	1
naringenin	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bis(tri-n-butyltin)oxide	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	affects expression, affects methylation, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1

Clinical trials (associated diseases)

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