GPX8
geneOn this page
Also known as UNQ847EPLA847
Summary
GPX8 (glutathione peroxidase 8 (putative), HGNC:33100) is a protein-coding gene on chromosome 5q11.2, encoding Probable glutathione peroxidase 8 (Q8TED1). It is a selective cancer dependency (DepMap: 11.7% of cell lines).
Enables peroxidase activity. Predicted to be involved in cellular response to oxidative stress. Predicted to be located in endoplasmic reticulum lumen.
Source: NCBI Gene 493869 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 2 total
- Cancer dependency (DepMap): dependent in 11.7% of screened cell lines
- MANE Select transcript:
NM_001008397
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33100 |
| Approved symbol | GPX8 |
| Name | glutathione peroxidase 8 (putative) |
| Location | 5q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UNQ847, EPLA847 |
| Ensembl gene | ENSG00000164294 |
| Ensembl biotype | protein_coding |
| OMIM | 617172 |
| Entrez | 493869 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000296734, ENST00000502733, ENST00000503787, ENST00000505096, ENST00000506123, ENST00000511617, ENST00000514317, ENST00000515370, ENST00000851835
RefSeq mRNA: 4 — MANE Select: NM_001008397
NM_001008397, NM_001306197, NM_001306198, NM_001306201
CCDS: CCDS34156, CCDS78009, CCDS82997
Canonical transcript exons
ENST00000503787 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002046254 | 55164055 | 55167297 |
| ENSE00002078711 | 55160171 | 55160396 |
| ENSE00003498491 | 55160994 | 55161255 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 97.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.6671 / max 1263.1084, expressed in 1399 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 56461 | 76.6671 | 1399 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 97.41 | gold quality |
| oviduct epithelium | UBERON:0004804 | 95.03 | gold quality |
| tibia | UBERON:0000979 | 93.60 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.98 | gold quality |
| placenta | UBERON:0001987 | 92.65 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.60 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.35 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.05 | gold quality |
| parietal pleura | UBERON:0002400 | 91.92 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.68 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.22 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.16 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.10 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.10 | gold quality |
| pericardium | UBERON:0002407 | 90.82 | gold quality |
| endometrium | UBERON:0001295 | 90.79 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.57 | gold quality |
| ascending aorta | UBERON:0001496 | 90.54 | gold quality |
| tendon | UBERON:0000043 | 89.95 | gold quality |
| decidua | UBERON:0002450 | 89.86 | gold quality |
| right coronary artery | UBERON:0001625 | 89.74 | gold quality |
| synovial joint | UBERON:0002217 | 89.27 | gold quality |
| visceral pleura | UBERON:0002401 | 89.20 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 88.85 | gold quality |
| gall bladder | UBERON:0002110 | 88.73 | gold quality |
| fallopian tube | UBERON:0003889 | 88.61 | gold quality |
| uterus | UBERON:0000995 | 88.54 | gold quality |
| caput epididymis | UBERON:0004358 | 88.18 | gold quality |
| bronchial epithelial cell | CL:0002328 | 87.86 | gold quality |
| skin of hip | UBERON:0001554 | 87.72 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 56.64 |
| E-CURD-112 | yes | 16.73 |
| E-ANND-3 | yes | 16.22 |
| E-GEOD-83139 | yes | 7.69 |
| E-ENAD-27 | yes | 7.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
105 targeting GPX8, 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-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 15)
- GPx8 labeled as secreted glutathione peroxidase, is actually endoplasmic reticulum-resident protein disulfide isomerase peroxidase (PMID:21215271)
- Quantitative proteomics identifies the membrane-associated peroxidase GPx8 as a cellular substrate of the hepatitis C virus NS3-4A protease. (PMID:23929719)
- Along with the induction of GPX8 in ER-stressed cells, these findings question a ubiquitous role of Ero1alpha as a producer of cytoplasmic ROS under ER stress (PMID:24566470)
- GPX8 is transcriptionally regulated by HIFalpha and modulates growth factor signaling in HeLa cells. (PMID:25557012)
- Study provides evidence that the conserved N-terminal transmembrane domain of GPX8, in addition to its enzymatic activity, is essential for regulating Ca(2+) dynamics revealing a novel level of integration between redox-related proteins and Ca(2+) signaling/homeostasis. (PMID:28129698)
- Glutathione Peroxidase 8 as a Prognostic Biomarker of Gastric Cancer: An Analysis of The Cancer Genome Atlas (TCGA) Data. (PMID:32392186)
- Characterization of the endoplasmic reticulum-resident peroxidases GPx7 and GPx8 shows the higher oxidative activity of GPx7 and its linkage to oxidative protein folding. (PMID:32719007)
- The glutathione peroxidase 8 (GPX8)/IL-6/STAT3 axis is essential in maintaining an aggressive breast cancer phenotype. (PMID:32817494)
- GPX8 promotes migration and invasion by regulating epithelial characteristics in non-small cell lung cancer. (PMID:32975378)
- GPx8 regulates apoptosis and autophagy in esophageal squamous cell carcinoma through the IRE1/JNK pathway. (PMID:35288240)
- GPX8 as a Novel Prognostic Factor and Potential Therapeutic Target in Primary Glioma. (PMID:36052280)
- GPX8 deficiency-induced oxidative stress reprogrammed m6A epitranscriptome of oral cancer cells. (PMID:37170591)
- GPX8 regulates pan-apoptosis in gliomas to promote microglial migration and mediate immunotherapy responses. (PMID:37795080)
- GPX8[+] cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment. (PMID:38515109)
- Downregulation of GPX8 in hepatocellular carcinoma: impact on tumor stemness and migration. (PMID:38607517)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpx8 | ENSDARG00000013302 |
| mus_musculus | Gpx8 | ENSMUSG00000021760 |
| rattus_norvegicus | Gpx8 | ENSRNOG00000010461 |
| caenorhabditis_elegans | WBGENE00007516 | |
| caenorhabditis_elegans | WBGENE00007517 | |
| caenorhabditis_elegans | WBGENE00011045 | |
| caenorhabditis_elegans | gpx-8 | WBGENE00018850 |
| caenorhabditis_elegans | WBGENE00022377 |
Paralogs (7): GPX7 (ENSG00000116157), GPX4 (ENSG00000167468), GPX2 (ENSG00000176153), GPX6 (ENSG00000198704), GPX3 (ENSG00000211445), GPX5 (ENSG00000224586), GPX1 (ENSG00000233276)
Protein
Protein identifiers
Probable glutathione peroxidase 8 — Q8TED1 (reviewed: Q8TED1)
All UniProt accessions (3): E7ETY7, Q8TED1, J3KNB5
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Similarity. Belongs to the glutathione peroxidase family.
RefSeq proteins (4): NP_001008398, NP_001293126, NP_001293127, NP_001293130 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000889 | Glutathione_peroxidase | Family |
| IPR013376 | Glut_perox_Gpx7 | Family |
| 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), 1 shown:
- 2 glutathione + H2O2 = glutathione disulfide + 2 H2O (RHEA:16833)
UniProt features (20 total): strand 7, helix 7, chain 1, transmembrane region 1, turn 1, active site 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3KIJ | X-RAY DIFFRACTION | 1.8 |
| 3CYN | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TED1-F1 | 93.29 | 0.84 |
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): 79
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3299685 | Detoxification of Reactive Oxygen Species |
MSigDB gene sets: 135 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_UP, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_DETOXIFICATION, LIAO_METASTASIS, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOMF_ANTIOXIDANT_ACTIVITY, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, CERVERA_SDHB_TARGETS_1_UP
GO Biological Process (3): cellular response to oxidative stress (GO:0034599), response to oxidative stress (GO:0006979), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (4): peroxidase activity (GO:0004601), glutathione peroxidase activity (GO:0004602), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (2): endoplasmic reticulum lumen (GO:0005788), membrane (GO:0016020)
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 oxidative stress | 1 |
| cellular response to chemical stress | 1 |
| response to stress | 1 |
| cellular detoxification | 1 |
| antioxidant activity | 1 |
| oxidoreductase activity, acting on peroxide as acceptor | 1 |
| peroxidase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPX8 | GSR | P00390 | 970 |
| GPX8 | TXN | P10599 | 900 |
| GPX8 | XDH | P47989 | 884 |
| GPX8 | SOD2 | P04179 | 858 |
| GPX8 | F5H3C5 | F5H3C5 | 857 |
| GPX8 | GLRX | P35754 | 841 |
| GPX8 | HMOX1 | P09601 | 838 |
| GPX8 | TXNRD1 | Q16881 | 828 |
| GPX8 | SOD1 | P00441 | 826 |
| GPX8 | GPT | P24298 | 814 |
| GPX8 | G6PD | P11413 | 804 |
| GPX8 | H6PD | O95479 | 804 |
| GPX8 | NFE2L2 | Q16236 | 800 |
| GPX8 | CASP3 | P42574 | 771 |
| GPX8 | CYCS | P00001 | 760 |
IntAct
559 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPX8 | GAPDHS | psi-mi:“MI:0915”(physical association) | 0.590 |
| UNC50 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VTI1B | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RTP2 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAEP | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLRG1 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST2 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNORC | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHST6 | CANX | psi-mi:“MI:0914”(association) | 0.530 |
| GPR101 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DNAJB6 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| LMP2 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF74 | MGAT5 | psi-mi:“MI:0914”(association) | 0.350 |
| MAD2L2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC39A12 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| HTR3A | GPAA1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM107 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP2 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLN | GPX8 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (314): GAPDHS (Affinity Capture-MS), GPX8 (PCA), GPX8 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), GPX8 (Affinity Capture-MS)
ESM2 similar proteins: E7E2N8, G9JJU2, O18994, O22850, O46607, O75715, P00435, P04041, P11352, P11909, P18283, P21765, P22352, P23764, P28714, P30710, P35666, P36014, P36968, P37141, P46412, P52033, P54996, P59796, P67877, P67878, P83645, Q0EF98, Q2NL01, Q4AEH0, Q4AEH1, Q4AEH3, Q4AEH4, Q4AEH5, Q4AEH7, Q4AEH8, Q4AEH9, Q4AEI0, Q59WD3, Q5RFG3
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.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 141 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Asparagine N-linked glycosylation | 8 | 6.1× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
523 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:55160397:G:GG | donor_gain | 1.0000 |
| 5:55160392:GCAAA:G | donor_gain | 0.9900 |
| 5:55160966:C:A | acceptor_gain | 0.9900 |
| 5:55160988:C:A | acceptor_gain | 0.9900 |
| 5:55160989:G:A | acceptor_gain | 0.9900 |
| 5:55161114:A:AG | acceptor_gain | 0.9900 |
| 5:55161150:G:GT | donor_gain | 0.9900 |
| 5:55160396:AG:A | donor_loss | 0.9800 |
| 5:55160397:GTA:G | donor_loss | 0.9800 |
| 5:55160398:TAAGT:T | donor_loss | 0.9800 |
| 5:55161180:G:GT | donor_gain | 0.9800 |
| 5:55160393:C:T | donor_gain | 0.9700 |
| 5:55160393:CAAA:C | donor_gain | 0.9700 |
| 5:55160399:AAGTT:A | donor_loss | 0.9700 |
| 5:55164049:TTTTA:T | acceptor_loss | 0.9700 |
| 5:55164050:TTTAG:T | acceptor_loss | 0.9700 |
| 5:55164051:TTA:T | acceptor_loss | 0.9700 |
| 5:55164052:TA:T | acceptor_loss | 0.9700 |
| 5:55164053:A:AG | acceptor_gain | 0.9700 |
| 5:55164054:G:GG | acceptor_gain | 0.9700 |
| 5:55161252:GTTG:G | donor_gain | 0.9600 |
| 5:55162752:A:G | donor_gain | 0.9600 |
| 5:55164048:ATTTT:A | acceptor_loss | 0.9600 |
| 5:55160394:AAA:A | donor_gain | 0.9500 |
| 5:55160395:AA:A | donor_gain | 0.9500 |
| 5:55161118:A:AG | acceptor_gain | 0.9300 |
| 5:55161119:G:GG | acceptor_gain | 0.9300 |
| 5:55161187:C:G | donor_gain | 0.9300 |
| 5:55161251:TGTTG:T | donor_loss | 0.9000 |
| 5:55161252:GTTGG:G | donor_loss | 0.9000 |
AlphaMissense
1360 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:55164100:T:A | V171D | 0.994 |
| 5:55164084:T:C | F166L | 0.993 |
| 5:55164086:T:A | F166L | 0.993 |
| 5:55164086:T:G | F166L | 0.993 |
| 5:55161105:T:C | F106L | 0.992 |
| 5:55161107:T:A | F106L | 0.992 |
| 5:55161107:T:G | F106L | 0.992 |
| 5:55161011:C:A | N74K | 0.991 |
| 5:55161011:C:G | N74K | 0.991 |
| 5:55161004:T:A | V72D | 0.990 |
| 5:55161091:T:C | F101S | 0.990 |
| 5:55161106:T:C | F106S | 0.989 |
| 5:55161120:T:C | F111L | 0.989 |
| 5:55161122:T:A | F111L | 0.989 |
| 5:55161122:T:G | F111L | 0.989 |
| 5:55161189:T:C | F134L | 0.989 |
| 5:55161191:C:A | F134L | 0.989 |
| 5:55161191:C:G | F134L | 0.989 |
| 5:55161001:T:C | L71P | 0.988 |
| 5:55161064:T:C | L92P | 0.988 |
| 5:55161097:T:A | V103E | 0.985 |
| 5:55161250:T:A | L154H | 0.985 |
| 5:55161055:T:C | L89P | 0.984 |
| 5:55164092:G:C | K168N | 0.984 |
| 5:55164092:G:T | K168N | 0.984 |
| 5:55164097:T:C | L170P | 0.984 |
| 5:55161113:C:G | C108W | 0.982 |
| 5:55161240:T:C | F151L | 0.982 |
| 5:55161242:T:A | F151L | 0.982 |
| 5:55161242:T:G | F151L | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000064221 (5:55161974 G>A,T), RS1000204806 (5:55163201 T>C), RS1000459556 (5:55163629 C>T), RS1000543736 (5:55161750 A>G), RS1000654791 (5:55161307 A>G,T), RS1001055749 (5:55163314 G>A), RS1001109569 (5:55163040 A>G), RS1002058121 (5:55165122 C>T), RS1002110756 (5:55164636 C>T), RS1002636930 (5:55159293 A>C,G), RS1003004147 (5:55161264 C>T), RS1003860806 (5:55159384 T>A,C), RS1004038814 (5:55161092 C>G,T), RS1004627991 (5:55158960 T>G), RS1004639177 (5:55165891 G>T)
Disease associations
OMIM: gene MIM:617172 | 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):
| Study | Trait | p-value |
|---|---|---|
| GCST008399_7 | Cocaine dependence | 8.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| monomethylarsonous acid | affects expression, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | affects expression, increases expression | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| Particulate Matter | decreases reaction, increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| bismuth tripotassium dicitrate | increases expression | 1 |
| bufotalin | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| cylindrospermopsin | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1Q7 | HyCyte Hep-G2 KO-hGPX8 | Cancer cell line | Male |
| CVCL_KT60 | HeLa SilenciX GPX8 | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cocaine dependence