PTOV1
gene geneOn this page
Summary
PTOV1 (PTOV1 extended AT-hook containing adaptor protein, HGNC:9632) is a protein-coding gene on chromosome 19q13.33, encoding Prostate tumor-overexpressed gene 1 protein (Q86YD1). May activate transcription.
This gene encodes a protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 53635 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 114 total
- MANE Select transcript:
NM_001394010
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9632 |
| Approved symbol | PTOV1 |
| Name | PTOV1 extended AT-hook containing adaptor protein |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000104960 |
| Ensembl biotype | protein_coding |
| OMIM | 610195 |
| Entrez | 53635 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 9 protein_coding, 6 retained_intron, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000391842, ENST00000594151, ENST00000594165, ENST00000594640, ENST00000595934, ENST00000596095, ENST00000596424, ENST00000597730, ENST00000597793, ENST00000598325, ENST00000598632, ENST00000599732, ENST00000600105, ENST00000600603, ENST00000600793, ENST00000601093, ENST00000601501, ENST00000601612, ENST00000601638, ENST00000601675, ENST00000602040
RefSeq mRNA: 9 — MANE Select: NM_001394010
NM_001305105, NM_001305108, NM_001364745, NM_001364747, NM_001364748, NM_001364749, NM_001364750, NM_001394010, NM_017432
CCDS: CCDS12782, CCDS82379, CCDS92668
Canonical transcript exons
ENST00000391842 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001509862 | 49851159 | 49851499 |
| ENSE00003460400 | 49860268 | 49860742 |
| ENSE00003475940 | 49854831 | 49854888 |
| ENSE00003495166 | 49857904 | 49857977 |
| ENSE00003526811 | 49856975 | 49857130 |
| ENSE00003627229 | 49859986 | 49860183 |
| ENSE00003647372 | 49854652 | 49854734 |
| ENSE00003650615 | 49854970 | 49855077 |
| ENSE00003668248 | 49858549 | 49858653 |
| ENSE00003683118 | 49858057 | 49858114 |
| ENSE00003689453 | 49854406 | 49854543 |
| ENSE00003785359 | 49857693 | 49857782 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 99.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 80.9311 / max 362.9212, expressed in 1819 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177077 | 31.9843 | 1811 |
| 177078 | 31.8962 | 1808 |
| 177076 | 5.1081 | 1733 |
| 177079 | 4.2124 | 1485 |
| 177075 | 3.6386 | 1462 |
| 177074 | 1.6920 | 928 |
| 177085 | 1.1074 | 479 |
| 177080 | 0.8808 | 379 |
| 177086 | 0.2005 | 91 |
| 177082 | 0.0817 | 12 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 99.31 | gold quality |
| ventricular zone | UBERON:0003053 | 99.30 | gold quality |
| cortical plate | UBERON:0005343 | 99.29 | gold quality |
| right uterine tube | UBERON:0001302 | 99.19 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.16 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.10 | gold quality |
| right testis | UBERON:0004534 | 99.10 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.06 | gold quality |
| left testis | UBERON:0004533 | 99.05 | gold quality |
| pituitary gland | UBERON:0000007 | 99.00 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.98 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.90 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.85 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.83 | gold quality |
| left ovary | UBERON:0002119 | 98.78 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.76 | gold quality |
| right ovary | UBERON:0002118 | 98.74 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.68 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.62 | gold quality |
| endocervix | UBERON:0000458 | 98.55 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.52 | gold quality |
| cerebellum | UBERON:0002037 | 98.48 | gold quality |
| adrenal gland | UBERON:0002369 | 98.39 | gold quality |
| body of uterus | UBERON:0009853 | 98.32 | gold quality |
| apex of heart | UBERON:0002098 | 98.29 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.24 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.23 | gold quality |
| left uterine tube | UBERON:0001303 | 98.18 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.97 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): JUN, RARA
miRNA regulators (miRDB)
14 targeting PTOV1, 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-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-6810-5P | 98.29 | 66.21 | 975 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-450A-2-3P | 97.91 | 67.56 | 1459 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
| HSA-MIR-6782-5P | 96.45 | 64.42 | 612 |
Literature-anchored findings (GeneRIF, showing 21)
- This protein, overexpressed in prostate cancer, shuttles between the cytoplasm and the nucleus and promotes entry into the S phase of the cell division cycle. (PMID:12598323)
- PTOV1 assists flotillin-1 in its translocation to the nucleus and both proteins are required for cell proliferation. (PMID:15713644)
- PTOV1 is overexpressed in high-grade prostatic intraepithelial neoplasia associated with cancer and is a potential marker for studying the carcinogenesis and progression of prostate cancer. (PMID:18451224)
- MED25 and PTOV1 differentially modulate retinoic acid sensitivity in cancer cells depending on their expression levels. (PMID:21110951)
- PTOV1 expression is associated to more aggressive human carcinomas and more significantly to bladder carcinomas suggesting that this protein is a potential new marker of aggressive disease in the latter tumors. (PMID:21181414)
- alpha-Methyl-CoA racemase can be considered a more accurate marker than PTOV1 in the identification of high-grade prostatic intraepithelial neoplasia (HGPIN) and of prostate cancer. (PMID:22507319)
- RA-induced cancer cell cytotoxicity was significantly impaired by Zyxin or PTOV1. Overall, our findings suggest that Zyxin and PTOV1 should be considered as critical determinants in cancer therapy with retinoids (PMID:23321499)
- In prostate tumors, the overexpression of PTOV1 was associated with decreased expression of HEY1 and HES1, and this correlation was significant in metastatic lesions. (PMID:24684754)
- The study showed that PTOV1 is upregulated in breast cancer cell lines and clinical samples, and its expression was positively associated with progression and aggressiveness of breast cancer, suggesting that PTOV1 could serve as an independent prognostic marker. (PMID:24947166)
- PTOV1 protein abnormal expression might contribute to the malignant progression of epithelial ovarian cancer. (PMID:25270739)
- Our study demonstrated that PTOV1 overexpression is correlated with increased aggressiveness of hepatocellular carcinoma and could be a prognostic biomarker for patients with HCC (PMID:25634174)
- PTOV1 overexpression is associated with poor survival outcomes of nasopharyngeal carcinoma patients. (PMID:26305455)
- High PTOV1 expression was associated with invasive urothelial carcinoma. (PMID:26746655)
- The combination of PTOV1 expression level and HPV status provides more prognostic information compared with HPV status alone in early-stage human laryngeal squamous cell carcinoma. (PMID:26992242)
- All the study samples showed a considerable decrease in PTOV1 expression in prostate cancer and HGPIN compared to morphologically normal glands. (PMID:27804940)
- Studies indicate that the number of binding partners and associated cellular functions has increased and helped to identify prostate-tumor-overexpressed-1 (PTOV1) as regulator of gene expression at transcription and translation levels. (PMID:28029646)
- this study takes the lead to demonstrate that the overexpressed PTOV1 plays a vital role in the tumorigenesis and progression of esophageal squamous cell carcinoma, and it is potentially a valuable prognostic predicator and new chemotherapeutic target for esophageal squamous cell carcinoma (PMID:28651486)
- PTOV1 interaction with translation complexes and its direct binding to ALDH1A1 and CCNG2 promoters found here reveal the PTOV1 capacity to modulate the expression of critical genes at multiple levels in aggressive cancers. (PMID:30922918)
- the acquisition of resistance in laryngeal cancer seems to be related to PTOV1 (PMID:31050705)
- PTOV1 and PIN1 interact and exert oncogenic role in MDA-MB-231 cells by sharing the similar expression profile at transcriptional and translational level which can be a promising hub for therapeutic target. (PMID:31083670)
- this study revealed PTOV1 as a poor prognosis factor for NSCLC patients, and targeting PTOV1 can be a strategy to increase chemosensitivity in NSCLC. (PMID:31387622)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med25 | ENSDARG00000038005 |
| mus_musculus | Ptov1 | ENSMUSG00000038502 |
| rattus_norvegicus | Ptov1 | ENSRNOG00000020358 |
| drosophila_melanogaster | MED25 | FBGN0038760 |
| drosophila_melanogaster | CG13609 | FBGN0039170 |
Paralogs (1): MED25 (ENSG00000104973)
Protein
Protein identifiers
Prostate tumor-overexpressed gene 1 protein — Q86YD1 (reviewed: Q86YD1)
Alternative names: Activator interaction domain-containing protein 2
All UniProt accessions (8): A0A0C4DGR2, Q86YD1, M0QX53, M0QY25, M0QYH6, M0QYH7, M0QYQ4, M0QZB9
UniProt curated annotations — full annotation on UniProt →
Function. May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation.
Subunit / interactions. May interact with CREBBP. Interacts with FLOT1.
Subcellular location. Cytoplasm. Nucleus. Cell membrane. Perinuclear region.
Tissue specificity. Expressed in brain, heart, kidney, liver, placenta, skeletal muscle and small intestine.
Post-translational modifications. Ubiquitinated by the CRL2(KLHDC2) complex, which recognizes the diglycine (Gly-Gly) at the C-terminus, leading to its degradation. Ubiquitinated by the CRL2(APPBP2) complex, which recognizes the Arg-Xaa-Xaa-Gly sequence at the C-terminus, leading to its degradation.
Induction. By testosterone.
Similarity. Belongs to the Mediator complex subunit 25 family. PTOV1 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86YD1-1 | 1 | yes |
| Q86YD1-2 | 2 | |
| Q86YD1-3 | 3 |
RefSeq proteins (9): NP_001292034, NP_001292037, NP_001351674, NP_001351676, NP_001351677, NP_001351678, NP_001351679, NP_001380939, NP_059128 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021394 | Med25_PTOV | Domain |
| IPR038196 | Med25_PTOV_sf | Homologous_superfamily |
Pfam: PF11232
UniProt features (10 total): splice variant 4, region of interest 2, compositionally biased region 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86YD1-F1 | 68.43 | 0.13 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 53
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
PAL_PRMT5_TARGETS_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ONKEN_UVEAL_MELANOMA_UP, TGCTGAY_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, E4F1_Q6, DANG_BOUND_BY_MYC, TTCNRGNNNNTTC_HSF_Q6, TGGAAA_NFAT_Q4_01, CP2_01, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, SANSOM_APC_TARGETS_REQUIRE_MYC, GARY_CD5_TARGETS_UP
GO Biological Process (1): positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (0):
GO Cellular Component (7): nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| nuclear lumen | 1 |
| protein-containing complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
676 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTOV1 | FLOT1 | O75955 | 891 |
| PTOV1 | FLOT2 | Q14254 | 768 |
| PTOV1 | MED6 | O75586 | 686 |
| PTOV1 | SYN3 | O14994 | 586 |
| PTOV1 | SYN2 | Q92777 | 554 |
| PTOV1 | CAMK2G | Q13555 | 524 |
| PTOV1 | SYN1 | P17600 | 490 |
| PTOV1 | ZNF395 | Q9H8N7 | 473 |
| PTOV1 | NCOR2 | Q9Y618 | 470 |
| PTOV1 | HDAC4 | P56524 | 459 |
| PTOV1 | HDAC6 | Q9UBN7 | 446 |
| PTOV1 | CAV1 | Q03135 | 430 |
| PTOV1 | VWF | P04275 | 425 |
| PTOV1 | CREBBP | Q92793 | 408 |
| PTOV1 | AHSA1 | O95433 | 400 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCM2 | KRIT1 | psi-mi:“MI:0914”(association) | 0.960 |
| MED10 | MED19 | psi-mi:“MI:0914”(association) | 0.910 |
| CDCA4 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.790 |
| BECN1 | ZWINT | psi-mi:“MI:0914”(association) | 0.750 |
| KLHDC2 | CUL2 | psi-mi:“MI:0914”(association) | 0.730 |
| YWHAH | FAM83G | psi-mi:“MI:0914”(association) | 0.710 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| DNAAF8 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC2 | PFDN1 | psi-mi:“MI:0914”(association) | 0.530 |
| PEX19 | FAM20B | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| PTGES3 | AIP | psi-mi:“MI:0914”(association) | 0.530 |
| FOXJ1 | PEX14 | psi-mi:“MI:0914”(association) | 0.530 |
| PEX19 | MYO1D | psi-mi:“MI:0914”(association) | 0.530 |
| NEFM | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| PTOV1 | SFN | psi-mi:“MI:0915”(physical association) | 0.400 |
| PTOV1 | CCR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK6 | psi-mi:“MI:0914”(association) | 0.350 | |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (100): PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-Western), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), XYLT2 (Affinity Capture-MS), RTCB (Affinity Capture-MS), MTA2 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS)
ESM2 similar proteins: A1L1K1, A2ARM1, A2AVJ5, A4IFC9, A7E305, G5EGQ2, O08653, O36006, O43435, O46080, O95343, P13481, P28702, P28704, P56423, P56424, P56645, P61260, P97499, Q02556, Q07820, Q2NL16, Q32N92, Q5E9R0, Q5REG4, Q5SQI0, Q5TJF7, Q5U2W6, Q5U2Y1, Q61010, Q62233, Q6MZQ0, Q80V91, Q86Y01, Q86YD1, Q8AW93, Q8BIG4, Q8HYS5, Q8N9I9, Q91VU8
Diamond homologs: A0A3Q7JC00, A2VE44, A4IFC9, A4IHD9, Q5U2W6, Q6GP15, Q6PEH8, Q71SY5, Q86YD1, Q8VCB2, Q91VU8, Q9VCB1, Q9VDR1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HUWE1 | “down-regulates quantity” | PTOV1 | ubiquitination |
| SGK3 | “down-regulates quantity by destabilization” | PTOV1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 84 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 89.6× | 5e-09 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 79.0× | 8e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 79.0× | 8e-09 |
| Activation of BH3-only proteins | 6 | 58.4× | 5e-08 |
| RHO GTPases activate PKNs | 6 | 37.3× | 5e-07 |
| Intrinsic Pathway for Apoptosis | 6 | 34.5× | 8e-07 |
| FOXO-mediated transcription | 5 | 32.9× | 1e-05 |
| Apoptosis | 8 | 26.3× | 5e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 25.4× | 8e-04 |
| intracellular protein localization | 7 | 10.2× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2543 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49854399:A:AG | acceptor_gain | 1.0000 |
| 19:49854399:ATT:A | acceptor_gain | 1.0000 |
| 19:49854400:T:G | acceptor_gain | 1.0000 |
| 19:49854401:TGCA:T | acceptor_loss | 1.0000 |
| 19:49854402:GCA:G | acceptor_loss | 1.0000 |
| 19:49854403:CA:C | acceptor_loss | 1.0000 |
| 19:49854404:AG:A | acceptor_gain | 1.0000 |
| 19:49854405:GG:G | acceptor_gain | 1.0000 |
| 19:49854405:GGA:G | acceptor_gain | 1.0000 |
| 19:49854405:GGAA:G | acceptor_gain | 1.0000 |
| 19:49854540:GGAG:G | donor_gain | 1.0000 |
| 19:49854541:GAG:G | donor_gain | 1.0000 |
| 19:49854541:GAGG:G | donor_gain | 1.0000 |
| 19:49854541:GAGGT:G | donor_loss | 1.0000 |
| 19:49854544:G:GG | donor_gain | 1.0000 |
| 19:49854544:GTGA:G | donor_loss | 1.0000 |
| 19:49854545:T:G | donor_loss | 1.0000 |
| 19:49854647:CACA:C | acceptor_loss | 1.0000 |
| 19:49854648:ACAG:A | acceptor_loss | 1.0000 |
| 19:49854650:A:AG | acceptor_gain | 1.0000 |
| 19:49854650:A:C | acceptor_loss | 1.0000 |
| 19:49854651:G:GG | acceptor_gain | 1.0000 |
| 19:49854651:GA:G | acceptor_gain | 1.0000 |
| 19:49854651:GAA:G | acceptor_gain | 1.0000 |
| 19:49854651:GAAGC:G | acceptor_gain | 1.0000 |
| 19:49854730:AACCT:A | donor_gain | 1.0000 |
| 19:49854731:ACCT:A | donor_gain | 1.0000 |
| 19:49854732:CCT:C | donor_gain | 1.0000 |
| 19:49854733:CT:C | donor_gain | 1.0000 |
| 19:49854733:CTGT:C | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000047569 (19:49856348 C>A), RS1000149564 (19:49848816 G>A), RS1000276473 (19:49852325 C>A,T), RS1000377580 (19:49853346 G>A), RS1000841885 (19:49858656 G>A,C,T), RS1000978229 (19:49852268 C>A,T), RS1001009670 (19:49850851 T>A,C), RS1001119999 (19:49855396 G>T), RS1001496833 (19:49858847 G>A,C), RS1001800924 (19:49852033 G>A), RS1001842698 (19:49858929 C>T), RS1001975253 (19:49858820 A>G), RS1002340336 (19:49854800 G>A), RS1002392275 (19:49851504 GC>G,GCC), RS1002399157 (19:49860990 C>T)
Disease associations
OMIM: gene MIM:610195 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): long QT syndrome (MONDO:0002442)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| salinomycin | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| MT19c compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Methotrexate | affects response to substance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Selenium | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Metribolone | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Palmitic Acid | decreases expression | 1 |
| Genistein | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
66 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT01648205 | PHASE2 | COMPLETED | Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients |
| NCT02412709 | PHASE2 | UNKNOWN | Long QT Syndrome Screening in Newborns |
| NCT04581408 | PHASE2 | COMPLETED | Mutation-specific Therapy for the Long QT Syndrome |
| NCT00316459 | PHASE1 | COMPLETED | Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects |
| NCT01849003 | PHASE1 | COMPLETED | Study of the Effect of GS-6615 in Subjects With LQT-3 |
| NCT02365532 | PHASE1 | COMPLETED | Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults |
| NCT02412098 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function |
| NCT02441829 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function |
| NCT05759962 | PHASE1 | COMPLETED | Phase 1 Study of LQT-1213 in Healthy Adults |
| NCT05906732 | PHASE1/PHASE2 | TERMINATED | Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2). |
| NCT00005176 | Not specified | COMPLETED | Long QT Syndrome-Population Genetics and Cardiac Studies |
| NCT00005250 | Not specified | COMPLETED | Linkage Study of Long QT Syndrome In An Amish Kindred |
| NCT00005367 | Not specified | COMPLETED | Epidemiology of Long QTand Asian Sudden Death in Sleep |
| NCT00221832 | Not specified | UNKNOWN | Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT00335036 | Not specified | TERMINATED | Pediatric Lead Extractability and Survival Evaluation (PLEASE) |
| NCT00399412 | Not specified | COMPLETED | ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients |
| NCT00488254 | Not specified | COMPLETED | The Long QT Syndrome in Pregnancy |
| NCT00588965 | Not specified | COMPLETED | Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects |
| NCT01705925 | Not specified | COMPLETED | Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome |
| NCT01903564 | Not specified | COMPLETED | Fetal and Neonatal Magnetophysiology |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02425189 | Not specified | COMPLETED | The Canadian National Long QT Syndrome Registry |
| NCT02439645 | Not specified | TERMINATED | A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes |
| NCT02439658 | Not specified | UNKNOWN | Genetics of QT Prolongation With Antiarrhythmics |
| NCT02549664 | Not specified | COMPLETED | Exercise in Genetic Cardiovascular Conditions |
| NCT02581241 | Not specified | COMPLETED | Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome |
| NCT02680080 | Not specified | COMPLETED | Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome |
| NCT02775513 | Not specified | UNKNOWN | Metabolism of Patients With Genetically Caused Cardiac Arrhythmia |
| NCT02814981 | Not specified | UNKNOWN | Hydroxyzine and Risk of Prolongation of QT Interval |
| NCT02876380 | Not specified | COMPLETED | Prospective Identification of Long QT Syndrome in Fetal Life |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03544918 | Not specified | COMPLETED | Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort |
| NCT03642405 | Not specified | UNKNOWN | Drug-induced Repolarization ECG Changes |
| NCT03678311 | Not specified | COMPLETED | Long QT Syndrome and Sleep Apnea |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.