GPX2

Summary

GPX2 (glutathione peroxidase 2, HGNC:4554) is a protein-coding gene on chromosome 14q23.3, encoding Glutathione peroxidase 2 (P18283). Catalyzes the reduction of hydroperoxides in a glutathione-dependent manner thus regulating cellular redox homeostasis.

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 predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. 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 2877 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_002083

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4554
Approved symbol	GPX2
Name	glutathione peroxidase 2
Location	14q23.3
Locus type	gene with protein product
Status	Approved
Aliases	GSHPX-GI
Ensembl gene	ENSG00000176153
Ensembl biotype	protein_coding
OMIM	138319
Entrez	2877

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 nonsense_mediated_decay

ENST00000389614, ENST00000553522, ENST00000557049, ENST00000557323

RefSeq mRNA: 1 — MANE Select: NM_002083 NM_002083

CCDS: CCDS41964

Canonical transcript exons

ENST00000389614 — 2 exons

Exon	Start	End
ENSE00002457899	64942505	64942745
ENSE00002511921	64939158	64939838

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 99.55.

FANTOM5 (CAGE): breadth broad, TPM avg 22.0227 / max 4000.0717, expressed in 329 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143677	21.0905	316
143678	0.5904	120
143679	0.3418	101

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gall bladder	UBERON:0002110	99.55	gold quality
rectum	UBERON:0001052	99.40	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.22	gold quality
mucosa of transverse colon	UBERON:0004991	99.16	gold quality
colonic mucosa	UBERON:0000317	99.08	gold quality
pancreatic ductal cell	CL:0002079	98.38	gold quality
lower esophagus mucosa	UBERON:0035834	98.36	gold quality
islet of Langerhans	UBERON:0000006	97.81	gold quality
ileal mucosa	UBERON:0000331	97.60	gold quality
nasal cavity epithelium	UBERON:0005384	97.21	gold quality
esophagus mucosa	UBERON:0002469	96.86	gold quality
right lobe of liver	UBERON:0001114	96.60	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.62	gold quality
vermiform appendix	UBERON:0001154	94.52	gold quality
caecum	UBERON:0001153	93.24	gold quality
tongue squamous epithelium	UBERON:0006919	93.21	gold quality
urinary bladder	UBERON:0001255	92.96	gold quality
liver	UBERON:0002107	92.68	gold quality
gingiva	UBERON:0001828	92.62	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.42	gold quality
nasal cavity mucosa	UBERON:0001826	92.26	gold quality
colonic epithelium	UBERON:0000397	92.22	gold quality
gingival epithelium	UBERON:0001949	92.14	gold quality
transverse colon	UBERON:0001157	91.97	gold quality
duodenum	UBERON:0002114	91.91	gold quality
small intestine	UBERON:0002108	91.59	gold quality
epithelium of esophagus	UBERON:0001976	91.36	gold quality
esophagus squamous epithelium	UBERON:0006920	91.06	gold quality
epithelial cell of pancreas	CL:0000083	90.69	gold quality
mucosa of urinary bladder	UBERON:0001259	90.66	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-8495	yes	4154.02
E-GEOD-130473	yes	3879.09
E-MTAB-8410	yes	1038.48
E-GEOD-125970	yes	847.15
E-MTAB-8060	yes	711.93
E-MTAB-6653	yes	621.96
E-CURD-114	yes	599.00
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, HNF4A, NFE2L2, TP53

miRNA regulators (miRDB)

26 targeting GPX2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-3611	98.76	68.76	1290
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-144-5P	97.66	69.90	531
HSA-MIR-6888-5P	95.89	63.78	831
HSA-MIR-4515	95.70	65.73	716

Literature-anchored findings (GeneRIF, showing 33)

• Cellular and subcellular localization of gastrointestinal glutathione peroxidase in normal and malignant human intestinal tissue (PMID:11811519)
• Knockout studies in mice suggest that Gpx2 mRNA and GPX-2 activity levels are induced by luminal microflora, consistent with a role in suppression of inflammation in the mucosal epithelium during weaning. (PMID:12751789)
• Data suggest that some antioxidants may exert their anti-inflammatory and anticarcinogenic effects not only by induction of phase 2 enzymes but also by the up-regulation of the selenoprotein GI-GPx by Nrf2 binding. (PMID:15923610)
• some isoforms of p63 serve as a pro-survival factor by up-regulating GPX2 to reduce the p53-dependent oxidative stress-induced apoptotic response (PMID:16446369)
• Glutathione peroxidase 2 (GPX2) is the major oxidative stress-inducible cellular GPX isoform in the lungs, and its basal as well as inducible expression is dependent on Nrf2. (PMID:16794261)
• SNPs involving the GSTP1, MnSOD and GPX2 genes were not associated with Barrett’s esophagus or esophageal adenocarcinoma (PMID:17277236)
• Activation of the glutathione peroxidase 2 (GPx2) promoter by beta-catenin. (PMID:17937616)
• Gpx2 is an overexpressed gene in human breast cancers (PMID:18056462)
• Results show that GPx2 by compartmentalized removal of hydroperoxides silences COX-2 activity and suppresses PGE(2)-dependent COX-2 and mPGES-1 expression. (PMID:18479189)
• No significant risk for GPX2 in colorectal adenoma. (PMID:18483336)
• Data show that GPx2 inhibits malignant characteristics of tumor cells, migration and invasion, obviously by counteracting COX-2 expression but is required for the growth of transformed intestinal cells and may, therefore, facilitate tumor cell growth. (PMID:19047153)
• A role of GPx2, TrxR2 and TrxR3 in proliferation, apoptosis and, therefore, also during cancer development. (PMID:22683372)
• A GPx2-independent decrease in tumor development by selenium (Se) and detrimental effects of the Nrf2-activator sulforaphane in moderate Se deficiency. (PMID:22758632)
• miR-185 plays a role in up-regulation of GPX2 and SEPHS2 expression. (PMID:23934683)
• Patients with high GPX2 expression in biopsy specimen had significantly lower prostate-specific antigen recurrence-free survival and overall survival than those with no GPX2 expression. (PMID:24562575)
• high GPx2 expression was associated with early tumor recurrence, particularly in the recently identified aggressive subtype of human colon cancer. (PMID:25261240)
• GPX2 underexpression is associated with advanced tumor status and implicated unfavorable clinical outcome of UCs, suggesting its role in tumor progression and may serve as a theranostic biomarker of UCs. (PMID:25813210)
• Cardamonin exposure and selenium availability regulate expression of HO-1, GPX2 and TrxR1 in human intestinal cells. (PMID:26698667)
• Results showed that the expression of GPX2 was significantly up-regulated within esophageal squamous cell carcinoma tissues. (PMID:27388201)
• GPx2 may play an important role in the development of nasopharyngeal carcinoma. Furthermore, GPx2 may serve as a prognostic biomarker for NPC patient. (PMID:28453466)
• Glutathione peroxidase 2 expression is a novel independent prognostic biomarker for gastric carcinoma that may be used to devise personalized therapeutic regimens and precision treatments for this disease (PMID:28631563)
• glutathione peroxidase 2 overexpression contributes to poor prognosis of hepatocellular carcinoma patients and helps to identify the high-risk hepatocellular carcinoma patients. (PMID:28635398)
• Yes associated protein 1 (YAP) activation led to excessive accumulation of reactive oxygen species (ROS) by downregulating the antioxidant enzyme glutathione peroxidase GPX2 in a manner related to tumor protein p63 blockade. (PMID:28916653)
• The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes. (PMID:30652380)
• Distinct and overlapping functions of glutathione peroxidases 1 and 2 in limiting NF-kappaB-driven inflammation through redox-active mechanisms. (PMID:31765890)
• GPX2 silencing relieves epithelial-mesenchymal transition, invasion, and metastasis in pancreatic cancer by downregulating Wnt pathway. (PMID:31774184)
• Reduced Expression Level of GPX2 in T1 Bladder Cancer and its Role in Early-phase Invasion of Bladder Cancer. (PMID:33622868)
• Iron-mediated epigenetic activation of NRF2 targets. (PMID:34954079)
• Redox signaling by glutathione peroxidase 2 links vascular modulation to metabolic plasticity of breast cancer. (PMID:35193955)
• Glutathione peroxidase 2: A key factor in the development of microsatellite instability in colon cancer. (PMID:36796200)
• Glutathione peroxidase 2 knockdown suppresses gastric cancer progression and metastasis via regulation of kynurenine metabolism. (PMID:37138031)
• ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors in colorectal cancer by promoting USP15-mediated GPX2 stabilization. (PMID:37743483)
• Long non-coding RNA NMRAL2P promotes glycolysis and reduces ROS in head and neck tumors by interacting with the ENO1 protein and promoting GPX2 transcription. (PMID:37810778)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gpx2	ENSMUSG00000042808
rattus_norvegicus	Gpx2	ENSRNOG00000055672
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), GPX6 (ENSG00000198704), GPX3 (ENSG00000211445), GPX5 (ENSG00000224586), GPX1 (ENSG00000233276)

Protein

Protein identifiers

Glutathione peroxidase 2 — P18283 (reviewed: P18283)

Alternative names: Gastrointestinal glutathione peroxidase, Glutathione peroxidase-gastrointestinal, Glutathione peroxidase-related protein 2, Phospholipid hydroperoxide glutathione peroxidase GPX2

All UniProt accessions (4): P18283, G3V323, G3V4J6, H0YJK8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reduction of hydroperoxides in a glutathione-dependent manner thus regulating cellular redox homeostasis. Can reduce small soluble hydroperoxides such as H2O2, cumene hydroperoxide and tert-butyl hydroperoxide, as well as several fatty acid-derived hydroperoxides. Cannot reduce phosphatidycholine hydroperoxide.

Subunit / interactions. Homotetramer.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Mostly in liver and gastrointestinal tract, not found in heart or kidney.

Similarity. Belongs to the glutathione peroxidase family.

RefSeq proteins (1): NP_002074* (*=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), 8 shown:

• 2 glutathione + H2O2 = glutathione disulfide + 2 H2O (RHEA:16833)
• a hydroperoxy polyunsaturated fatty acid + 2 glutathione = a hydroxy polyunsaturated fatty acid + glutathione disulfide + H2O (RHEA:19057)
• (5S)-hydroperoxy-(6E,8Z,11Z,14Z)-eicosatetraenoate + 2 glutathione = (5S)-hydroxy-(6E,8Z,11Z,14Z)-eicosatetraenoate + glutathione disulfide + H2O (RHEA:48620)
• (13S)-hydroperoxy-(9Z,11E)-octadecadienoate + 2 glutathione = (13S)-hydroxy-(9Z,11E)-octadecadienoate + glutathione disulfide + H2O (RHEA:48888)
• tert-butyl hydroperoxide + 2 glutathione = tert-butanol + glutathione disulfide + H2O (RHEA:69412)
• cumene hydroperoxide + 2 glutathione = 2-phenylpropan-2-ol + glutathione disulfide + H2O (RHEA:69651)
• (12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate + 2 glutathione = (12R)-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate + glutathione disulfide + H2O (RHEA:76691)
• (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + 2 glutathione = (15S)-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + glutathione disulfide + H2O (RHEA:76695)

UniProt features (27 total): helix 9, strand 8, sequence variant 4, sequence conflict 2, chain 1, active site 1, turn 1, non-standard amino acid 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2HE3	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

No AlphaFold model available for P18283 — 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): 40

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2142688	Synthesis of 5-eicosatetraenoic acids
R-HSA-2142712	Synthesis of 12-eicosatetraenoic acid derivatives
R-HSA-2142770	Synthesis of 15-eicosatetraenoic acid derivatives
R-HSA-3299685	Detoxification of Reactive Oxygen Species
R-HSA-5628897	TP53 Regulates Metabolic Genes

MSigDB gene sets: 197 (showing top): MODULE_93, JAEGER_METASTASIS_DN, GOZGIT_ESR1_TARGETS_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GGGTGGRR_PAX4_03, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, TCF4_Q5, MODULE_75, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, HUPER_BREAST_BASAL_VS_LUMINAL_UP, GOBP_DETOXIFICATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, MODULE_213

GO Biological Process (2): response to oxidative stress (GO:0006979), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (5): glutathione peroxidase activity (GO:0004602), electron transfer activity (GO:0009055), phospholipid-hydroperoxide glutathione peroxidase activity (GO:0047066), peroxidase activity (GO:0004601), oxidoreductase activity (GO:0016491)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), intercellular bridge (GO:0045171), mitotic spindle (GO:0072686)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Arachidonate metabolism	3
Cellular response to chemical stress	1
Transcriptional Regulation by TP53	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
peroxidase activity	2
response to stress	1
cellular detoxification	1
molecular_function	1
antioxidant activity	1
oxidoreductase activity, acting on peroxide as acceptor	1
catalytic activity	1
intracellular anatomical structure	1
cytoplasm	1
spindle	1

Protein interactions and networks

STRING

3688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPX2	GSR	P00390	970
GPX2	TXN	P10599	927
GPX2	XDH	P47989	883
GPX2	TXNRD1	Q16881	877
GPX2	SELENOP	P49908	859
GPX2	F5H3C5	F5H3C5	854
GPX2	SOD2	P04179	854
GPX2	GLRX	P35754	850
GPX2	HMOX1	P09601	847
GPX2	SOD1	P00441	819
GPX2	NFE2L2	Q16236	814
GPX2	MSRB1	Q9NZV6	810
GPX2	TXNRD3	Q86VQ6	810
GPX2	H6PD	O95479	803
GPX2	G6PD	P11413	803

IntAct

6 interactions, top by confidence:

A	B	Type	Score
GPX2	E6	psi-mi:“MI:0915”(physical association)	0.370
MYC	GPX2	psi-mi:“MI:0915”(physical association)	0.370
PSMB2	GPX2	psi-mi:“MI:0915”(physical association)	0.370
TP53	GPX2	psi-mi:“MI:0915”(physical association)	0.370
TMIGD1	DDX39A	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): GPX2 (Two-hybrid), GPX2 (Affinity Capture-MS), GPX2 (Affinity Capture-Western), ACVRL1 (Affinity Capture-Western), GPX2 (Affinity Capture-Western), USP15 (Affinity Capture-Western), PSMB2 (Two-hybrid), MYC (Two-hybrid), TP53 (Two-hybrid)

ESM2 similar proteins: A9PCL4, O02621, O04922, O22448, O22711, O22850, O23814, O23968, O23970, O24031, O32770, O49069, O59858, O62327, O75715, P04041, P11352, P11909, P18283, P28714, P30708, P36968, P36969, P38143, P40581, P52035, P64290, P64291, P73824, P74250, P99097, Q00277, Q0EF98, Q32QL6, Q4AEG9, Q4AEH0, Q4AEH1, Q4AEH2, Q4AEH9, Q4AEI0

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

263 predictions. Top by Δscore:

Variant	Effect	Δscore
14:64939834:TTCTC:T	acceptor_gain	1.0000
14:64939836:CTC:C	acceptor_gain	1.0000
14:64939838:CCTAG:C	acceptor_loss	1.0000
14:64939839:C:CC	acceptor_gain	1.0000
14:64939840:T:G	acceptor_loss	1.0000
14:64942499:CCTCA:C	donor_loss	1.0000
14:64942500:CTCA:C	donor_loss	1.0000
14:64942501:TCAC:T	donor_loss	1.0000
14:64942502:CA:C	donor_loss	1.0000
14:64942503:ACCTG:A	donor_loss	1.0000
14:64942504:CCTGA:C	donor_loss	1.0000
14:64939837:TC:T	acceptor_gain	0.9900
14:64939838:CC:C	acceptor_gain	0.9900
14:64940399:AGCT:A	donor_gain	0.9800
14:64939835:TCTCC:T	acceptor_gain	0.9600
14:64939836:CTCCT:C	acceptor_gain	0.9600
14:64939839:C:T	acceptor_gain	0.9600
14:64940400:G:C	donor_gain	0.9500
14:64942540:C:CT	donor_gain	0.9500
14:64939991:A:AC	donor_gain	0.9400
14:64939992:C:CC	donor_gain	0.9400
14:64941422:C:CA	donor_gain	0.9300
14:64942503:A:AC	donor_gain	0.9300
14:64942504:C:CC	donor_gain	0.9300
14:64941357:TG:T	donor_gain	0.9200
14:64942541:C:CT	donor_gain	0.9000
14:64940325:T:A	donor_gain	0.8500
14:64940215:C:CT	acceptor_gain	0.8300
14:64940632:A:G	donor_gain	0.8300
14:64942663:C:CT	donor_gain	0.8300

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000342706 (14:64939197 G>A), RS1000639104 (14:64943620 T>C), RS1001183963 (14:64938752 A>G), RS1001304354 (14:64941121 C>T), RS1003029884 (14:64939452 A>G), RS1003982236 (14:64942953 C>T), RS1004327706 (14:64940099 G>A,T), RS1004430069 (14:64940083 A>G,T), RS1005317102 (14:64943707 A>G), RS1005380894 (14:64944231 A>G), RS1005543763 (14:64941418 G>C,T), RS1005656730 (14:64941693 T>C,G), RS1007337136 (14:64940317 C>A,T), RS1007424148 (14:64944222 G>A), RS1008108153 (14:64941536 G>A,C)

Disease associations

OMIM: gene MIM:138319 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases expression	6
sodium arsenite	decreases expression, increases abundance, increases expression	5
Estradiol	increases expression, decreases expression, affects cotreatment	5
Acetaminophen	decreases expression, increases expression, affects cotreatment	4
Air Pollutants	increases expression, increases abundance	4
Benzo(a)pyrene	decreases reaction, increases expression, decreases expression, decreases methylation	4
Quercetin	decreases expression, affects cotreatment, increases expression	4
Cyclosporine	decreases expression, affects cotreatment	4
tert-Butylhydroperoxide	increases reduction, decreases expression, increases expression	4
Arsenic	increases abundance, affects cotreatment, increases expression	3
Ascorbic Acid	affects binding, affects cotreatment, increases expression	3
Hydrogen Peroxide	increases reduction, affects expression, increases expression	3
Tretinoin	affects cotreatment, increases expression, increases activity	3
sodium arsenate	increases abundance, increases expression	2
cobaltous chloride	affects cotreatment, increases expression, decreases expression	2
nefazodone	affects cotreatment, decreases expression	2
monomethylarsonous acid	increases expression	2
Atazanavir Sulfate	affects cotreatment, decreases expression	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Aerosols	increases expression	2
Chenodeoxycholic Acid	affects cotreatment, decreases expression	2
Deoxycholic Acid	affects cotreatment, decreases expression	2
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression	2
Glycocholic Acid	affects cotreatment, decreases expression	2
Glycodeoxycholic Acid	affects cotreatment, decreases expression	2
Gold	increases expression	2
Paraquat	affects cotreatment, increases expression	2
Plant Extracts	affects cotreatment, decreases expression, increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Smoke	increases abundance, increases expression	2

Clinical trials (associated diseases)

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