GPX7
gene geneOn this page
Also known as FLJ14777GPX6NPGPx
Summary
GPX7 (glutathione peroxidase 7, HGNC:4559) is a protein-coding gene on chromosome 1p32.3, encoding Glutathione peroxidase 7 (Q96SL4). It protects esophageal epithelia from hydrogen peroxide-induced oxidative stress.
Enables catalase activity. Predicted to be involved in cellular response to oxidative stress. Located in endoplasmic reticulum. Implicated in Barrett’s adenocarcinoma and Barrett’s esophagus.
Source: NCBI Gene 2882 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 27 total
- MANE Select transcript:
NM_015696
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4559 |
| Approved symbol | GPX7 |
| Name | glutathione peroxidase 7 |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14777, GPX6, NPGPx |
| Ensembl gene | ENSG00000116157 |
| Ensembl biotype | protein_coding |
| OMIM | 615784 |
| Entrez | 2882 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000361314, ENST00000459779
RefSeq mRNA: 1 — MANE Select: NM_015696
NM_015696
CCDS: CCDS569
Canonical transcript exons
ENST00000361314 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000835736 | 52606684 | 52606945 |
| ENSE00001434677 | 52602371 | 52602547 |
| ENSE00001435777 | 52608262 | 52609051 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 90.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8313 / max 121.1757, expressed in 1350 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2878 | 13.8313 | 1350 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 90.07 | gold quality |
| ventricular zone | UBERON:0003053 | 88.49 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.22 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.70 | gold quality |
| periodontal ligament | UBERON:0008266 | 84.50 | silver quality |
| gall bladder | UBERON:0002110 | 84.28 | gold quality |
| granulocyte | CL:0000094 | 83.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.70 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.50 | gold quality |
| adenohypophysis | UBERON:0002196 | 82.71 | gold quality |
| thyroid gland | UBERON:0002046 | 82.56 | gold quality |
| embryo | UBERON:0000922 | 82.28 | gold quality |
| left uterine tube | UBERON:0001303 | 82.19 | gold quality |
| endocervix | UBERON:0000458 | 82.15 | gold quality |
| ascending aorta | UBERON:0001496 | 81.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.87 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 81.87 | gold quality |
| thoracic aorta | UBERON:0001515 | 81.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.80 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.60 | gold quality |
| pituitary gland | UBERON:0000007 | 81.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.46 | gold quality |
| bone marrow | UBERON:0002371 | 81.17 | gold quality |
| tibia | UBERON:0000979 | 81.06 | gold quality |
| endometrium | UBERON:0001295 | 81.02 | gold quality |
| left coronary artery | UBERON:0001626 | 81.01 | gold quality |
| body of pancreas | UBERON:0001150 | 80.88 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.83 | gold quality |
| cortical plate | UBERON:0005343 | 80.80 | gold quality |
| body of uterus | UBERON:0009853 | 80.79 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.99 |
| E-MTAB-6379 | no | 211.89 |
| E-MTAB-9543 | no | 1.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting GPX7, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Literature-anchored findings (GeneRIF, showing 15)
- NPGPx plays an essential role in breast cancer cells in alleviating oxidative stress generated from polyunsaturated fatty acid metabolism (PMID:15294905)
- GPx7 labeled as secreted glutathione peroxidase, is actually endoplasmic reticulum-resident protein disulfide isomerase peroxidase (PMID:21215271)
- NPGPx is essential for releasing excessive ER stress by enhancing GRP78 chaperone activity to maintain physiological homeostasis. (PMID:23123197)
- GPx7 is an unusual CysGPx catalyzing the peroxidatic cycle by a one Cys mechanism in which GSH and PDI are alternative substrates. (PMID:23454490)
- tumour suppressor functions in esophageal adenocarcinomas and silenced by location-specific promoter DNA methylation (PMID:23580780)
- NPGPx protects against fat accumulation in mice and human via modulating ROS (PMID:23828861)
- GPx7 promotes oxidative protein folding, directly utilizing Ero1alpha-generated hydrogen peroxide in the early secretory compartment. (PMID:23919619)
- Loss of glutathione peroxidase 7 promotes TNF-alpha-induced NF-kappaB activation in Barrett’s carcinogenesis. (PMID:24692067)
- SNPs most associated with Chemotherapy-induced peripheral neuropathy were in ATP-binding cassette sub-family C member 4 (ABCC4) gene. (PMID:25586538)
- use GPX4 and GPX7 as possible markers for improving HCC diagnosis/prognosis. (PMID:26708178)
- 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)
- MicroRNAs mediated regulation of glutathione peroxidase 7 expression and its changes during adipogenesis. (PMID:34339889)
- GPX7 Facilitates BMSCs Osteoblastogenesis via ER Stress and mTOR Pathway. (PMID:34626080)
- Comprehensive analysis of epigenetics regulation, prognostic and the correlation with immune infiltrates of GPX7 in adult gliomas. (PMID:35440701)
- GPX7 reduces chondrocyte inflammation and extracellular matrix degradation triggered by IL-1beta, via a mechanism mediated by ferroptosis. (PMID:38757339)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpx7 | ENSDARG00000091511 |
| mus_musculus | Gpx7 | ENSMUSG00000028597 |
| rattus_norvegicus | Gpx7 | ENSRNOG00000009751 |
| caenorhabditis_elegans | WBGENE00007516 | |
| caenorhabditis_elegans | WBGENE00007517 | |
| caenorhabditis_elegans | WBGENE00011045 | |
| caenorhabditis_elegans | gpx-8 | WBGENE00018850 |
| caenorhabditis_elegans | WBGENE00022377 |
Paralogs (7): GPX8 (ENSG00000164294), GPX4 (ENSG00000167468), GPX2 (ENSG00000176153), GPX6 (ENSG00000198704), GPX3 (ENSG00000211445), GPX5 (ENSG00000224586), GPX1 (ENSG00000233276)
Protein
Protein identifiers
Glutathione peroxidase 7 — Q96SL4 (reviewed: Q96SL4)
Alternative names: CL683
All UniProt accessions (1): Q96SL4
UniProt curated annotations — full annotation on UniProt →
Function. It protects esophageal epithelia from hydrogen peroxide-induced oxidative stress. It suppresses acidic bile acid-induced reactive oxygen species (ROS) and protects against oxidative DNA damage and double-strand breaks.
Subcellular location. Secreted.
Tissue specificity. Expressed in esophageal epithelial cells; expression is up-regulated after exposure to acidic bile acids.
Disease relevance. Barrett esophagus (BE) [MIM:614266] A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. The disease is caused by variants affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells.
Similarity. Belongs to the glutathione peroxidase family.
RefSeq proteins (1): NP_056511* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000889 | Glutathione_peroxidase | Family |
| IPR013376 | Glut_perox_Gpx7 | 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), 1 shown:
- 2 glutathione + H2O2 = glutathione disulfide + 2 H2O (RHEA:16833)
UniProt features (18 total): helix 7, strand 7, signal peptide 1, chain 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2P31 | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96SL4-F1 | 93.24 | 0.86 |
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): 57
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3299685 | Detoxification of Reactive Oxygen Species |
MSigDB gene sets: 176 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, CHANDRAN_METASTASIS_DN, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOBP_DETOXIFICATION, GGCAGTG_MIR3243P, GOMF_ANTIOXIDANT_ACTIVITY, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_UP, ACEVEDO_LIVER_CANCER_UP, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, SCHUETZ_BREAST_CANCER_DUCTAL_INVASIVE_UP, GOMF_GLUTATHIONE_PEROXIDASE_ACTIVITY, KEGG_GLUTATHIONE_METABOLISM
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 (5): catalase activity (GO:0004096), peroxidase activity (GO:0004601), glutathione peroxidase activity (GO:0004602), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): extracellular region (GO:0005576), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788)
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 |
|---|---|
| peroxidase activity | 2 |
| 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 |
| binding | 1 |
| catalytic activity | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
3544 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPX7 | GSR | P00390 | 968 |
| GPX7 | TXN | P10599 | 902 |
| GPX7 | XDH | P47989 | 884 |
| GPX7 | F5H3C5 | F5H3C5 | 858 |
| GPX7 | SOD2 | P04179 | 858 |
| GPX7 | TXNRD1 | Q16881 | 844 |
| GPX7 | GLRX | P35754 | 842 |
| GPX7 | HMOX1 | P09601 | 837 |
| GPX7 | SOD1 | P00441 | 828 |
| GPX7 | GPT | P24298 | 813 |
| GPX7 | H6PD | O95479 | 803 |
| GPX7 | G6PD | P11413 | 802 |
| GPX7 | NFE2L2 | Q16236 | 800 |
| GPX7 | TXNRD3 | Q86VQ6 | 790 |
| GPX7 | MSRB1 | Q9NZV6 | 780 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GPX7 | GET3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GET3 | GPX7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SGTA | GPX7 | psi-mi:“MI:0915”(physical association) | 0.700 |
| GPX7 | SGTA | psi-mi:“MI:0915”(physical association) | 0.700 |
| GPX7 | GAK | psi-mi:“MI:0914”(association) | 0.640 |
| TGIF2LY | PGP | psi-mi:“MI:0914”(association) | 0.640 |
| CEP70 | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX7 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX7 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX7 | CPNE7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NTAQ1 | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX7 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NCALD | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGTB | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASPH | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DMWD | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX7 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | GPX7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (94): HSPA5 (Affinity Capture-MS), HSPA9 (Affinity Capture-MS), PDIA4 (Affinity Capture-MS), EEF1A1 (Affinity Capture-MS), DNAJB11 (Affinity Capture-MS), HIST1H1B (Affinity Capture-MS), HSPA5 (Affinity Capture-Western), GPX7 (Affinity Capture-Western), GPX7 (Two-hybrid), CEP70 (Two-hybrid), SGTA (Two-hybrid), GPX7 (PCA), P4HB (Affinity Capture-Western), UTP6 (Affinity Capture-MS), GAK (Affinity Capture-MS)
ESM2 similar proteins: A4FV98, A6NKP2, A6QLY2, O18735, O43488, O75382, O75648, O77485, O77486, O88676, P04626, P23764, P25325, P34059, P52848, Q02353, Q0VD18, Q10836, Q10981, Q10982, Q28113, Q32KH5, Q32KJ6, Q3U129, Q3UHN9, Q4R766, Q571E4, Q5I0D5, Q5RB73, Q5RJL2, Q6AYT7, Q6P988, Q7RTV5, Q7Z4H8, Q8CIW5, Q8K093, Q8N2K0, Q8WNQ7, Q96AZ1, Q96SL4
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
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
628 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:52602543:GATCG:G | donor_gain | 1.0000 |
| 1:52602548:G:GA | donor_loss | 1.0000 |
| 1:52602548:G:GG | donor_gain | 1.0000 |
| 1:52602549:T:A | donor_loss | 1.0000 |
| 1:52606681:CAGGT:C | acceptor_loss | 1.0000 |
| 1:52606682:A:AG | acceptor_gain | 1.0000 |
| 1:52606683:G:GC | acceptor_gain | 1.0000 |
| 1:52606683:GGT:G | acceptor_gain | 1.0000 |
| 1:52606840:GAGAT:G | donor_gain | 1.0000 |
| 1:52606941:GGCCC:G | donor_gain | 1.0000 |
| 1:52606942:GCCC:G | donor_gain | 1.0000 |
| 1:52606942:GCCCG:G | donor_gain | 1.0000 |
| 1:52606946:G:GG | donor_gain | 1.0000 |
| 1:52602532:G:GT | donor_gain | 0.9900 |
| 1:52602545:TCG:T | donor_gain | 0.9900 |
| 1:52602550:GAGT:G | donor_loss | 0.9900 |
| 1:52606674:T:TA | acceptor_gain | 0.9900 |
| 1:52606679:T:G | acceptor_gain | 0.9900 |
| 1:52606680:ACAG:A | acceptor_gain | 0.9900 |
| 1:52606681:C:G | acceptor_gain | 0.9900 |
| 1:52606682:AG:A | acceptor_gain | 0.9900 |
| 1:52606682:AGGT:A | acceptor_gain | 0.9900 |
| 1:52606683:GG:G | acceptor_gain | 0.9900 |
| 1:52606683:GGTG:G | acceptor_gain | 0.9900 |
| 1:52606683:GGTGT:G | acceptor_gain | 0.9900 |
| 1:52606943:CCC:C | donor_gain | 0.9900 |
| 1:52606944:CC:C | donor_gain | 0.9900 |
| 1:52606945:CGTAA:C | donor_loss | 0.9900 |
| 1:52606946:G:GC | donor_loss | 0.9900 |
| 1:52606947:T:G | donor_loss | 0.9900 |
AlphaMissense
1206 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:52608290:C:A | N143K | 0.997 |
| 1:52608290:C:G | N143K | 0.997 |
| 1:52606701:T:A | N52K | 0.996 |
| 1:52606701:T:G | N52K | 0.996 |
| 1:52606795:T:C | F84L | 0.996 |
| 1:52606797:C:A | F84L | 0.996 |
| 1:52606797:C:G | F84L | 0.996 |
| 1:52606810:T:C | F89L | 0.996 |
| 1:52606812:T:A | F89L | 0.996 |
| 1:52606812:T:G | F89L | 0.996 |
| 1:52608319:G:T | G153V | 0.996 |
| 1:52608291:T:C | F144L | 0.995 |
| 1:52608293:C:A | F144L | 0.995 |
| 1:52608293:C:G | F144L | 0.995 |
| 1:52606781:T:C | F79S | 0.994 |
| 1:52606803:C:G | C86W | 0.994 |
| 1:52606754:T:C | L70P | 0.993 |
| 1:52606796:T:C | F84S | 0.993 |
| 1:52606879:T:C | F112L | 0.993 |
| 1:52606881:C:A | F112L | 0.993 |
| 1:52606881:C:G | F112L | 0.993 |
| 1:52606802:G:A | C86Y | 0.992 |
| 1:52606930:T:C | F129L | 0.991 |
| 1:52606932:C:A | F129L | 0.991 |
| 1:52606932:C:G | F129L | 0.991 |
| 1:52608299:G:C | K146N | 0.991 |
| 1:52608299:G:T | K146N | 0.991 |
| 1:52608307:T:A | V149E | 0.991 |
| 1:52606787:T:A | V81E | 0.989 |
| 1:52606811:T:G | F89C | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000019423 (1:52603197 C>G), RS1000477403 (1:52609050 C>T), RS1000517957 (1:52609296 T>C,G), RS1000621703 (1:52601897 A>G), RS1000993913 (1:52601465 T>C), RS1001520140 (1:52607966 G>C), RS1002083918 (1:52600455 C>T), RS1002380673 (1:52604908 G>A), RS1002490190 (1:52605797 C>T), RS1002966280 (1:52609093 G>C), RS1003095540 (1:52601321 T>G), RS1003192175 (1:52603060 A>G), RS1003344038 (1:52608745 G>A), RS1006041121 (1:52609130 A>G), RS1006187606 (1:52604172 A>C)
Disease associations
OMIM: gene MIM:615784 | 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 |
|---|---|---|
| GCST003998_18 | Joint mobility (Beighton score) | 2.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007905 | joint hypermobility measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 9 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| tungsten carbide | affects binding, decreases expression | 1 |
| naringenin | increases expression, affects cotreatment | 1 |
| bis(tri-n-butyltin)oxide | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | increases methylation | 1 |
| trichostatin A | increases reaction, affects expression, affects methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| cerous chloride | decreases expression, affects cotreatment | 1 |
| lanthanum chloride | affects cotreatment, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| belinostat | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Decitabine | affects methylation, increases reaction, affects expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.