MTBP
gene geneOn this page
Summary
MTBP (MDM2 binding protein, HGNC:7417) is a protein-coding gene on chromosome 8q24.12, encoding Mdm2-binding protein (Q96DY7). Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation.
Source: NCBI Gene 27085 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 127 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_022045
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7417 |
| Approved symbol | MTBP |
| Name | MDM2 binding protein |
| Location | 8q24.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000172167 |
| Ensembl biotype | protein_coding |
| OMIM | 605927 |
| Entrez | 27085 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 4 retained_intron, 3 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000305949, ENST00000456899, ENST00000519188, ENST00000519556, ENST00000519841, ENST00000522308, ENST00000522449, ENST00000523373, ENST00000936431, ENST00000936432
RefSeq mRNA: 1 — MANE Select: NM_022045
NM_022045
CCDS: CCDS6333
Canonical transcript exons
ENST00000305949 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001157795 | 120522654 | 120522719 |
| ENSE00001157803 | 120518704 | 120518817 |
| ENSE00001157809 | 120517851 | 120518100 |
| ENSE00001157816 | 120515925 | 120516191 |
| ENSE00001157822 | 120509934 | 120510029 |
| ENSE00001157828 | 120506706 | 120506861 |
| ENSE00001157832 | 120502492 | 120502609 |
| ENSE00001157838 | 120497393 | 120497554 |
| ENSE00001157843 | 120490463 | 120490570 |
| ENSE00001157850 | 120488159 | 120488332 |
| ENSE00001157865 | 120463692 | 120463761 |
| ENSE00001157877 | 120459215 | 120459349 |
| ENSE00001157885 | 120456553 | 120456670 |
| ENSE00001157892 | 120455435 | 120455579 |
| ENSE00001157903 | 120453847 | 120453905 |
| ENSE00001157912 | 120451171 | 120451322 |
| ENSE00001175780 | 120523298 | 120523636 |
| ENSE00001175789 | 120445419 | 120445588 |
| ENSE00003554500 | 120451003 | 120451076 |
| ENSE00003594089 | 120461161 | 120461255 |
| ENSE00003595841 | 120446433 | 120446513 |
| ENSE00003617751 | 120470820 | 120470937 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 82.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6548 / max 96.9110, expressed in 1350 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 90424 | 5.2821 | 1333 |
| 90425 | 0.3727 | 208 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.91 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.80 | gold quality |
| ventricular zone | UBERON:0003053 | 80.84 | gold quality |
| buccal mucosa cell | CL:0002336 | 79.14 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 79.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 79.10 | gold quality |
| calcaneal tendon | UBERON:0003701 | 78.88 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 78.25 | gold quality |
| cerebellum | UBERON:0002037 | 77.16 | gold quality |
| embryo | UBERON:0000922 | 76.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 76.99 | gold quality |
| adrenal tissue | UBERON:0018303 | 76.41 | gold quality |
| sural nerve | UBERON:0015488 | 75.00 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.89 | gold quality |
| secondary oocyte | CL:0000655 | 72.03 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 71.83 | gold quality |
| rectum | UBERON:0001052 | 71.78 | gold quality |
| bone marrow cell | CL:0002092 | 71.00 | gold quality |
| vermiform appendix | UBERON:0001154 | 70.64 | gold quality |
| monocyte | CL:0000576 | 70.16 | gold quality |
| leukocyte | CL:0000738 | 69.93 | gold quality |
| lymph node | UBERON:0000029 | 69.38 | gold quality |
| islet of Langerhans | UBERON:0000006 | 69.33 | gold quality |
| tibial nerve | UBERON:0001323 | 68.95 | gold quality |
| right testis | UBERON:0004534 | 68.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 68.60 | gold quality |
| right ovary | UBERON:0002118 | 68.34 | gold quality |
| body of uterus | UBERON:0009853 | 68.23 | gold quality |
| left ovary | UBERON:0002119 | 68.20 | gold quality |
| testis | UBERON:0000473 | 68.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.51 |
| E-MTAB-6379 | no | 192.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting MTBP, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-1284 | 99.67 | 73.56 | 1353 |
| HSA-MIR-26A-1-3P | 99.64 | 66.81 | 788 |
| HSA-MIR-26A-2-3P | 99.64 | 66.82 | 786 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-6073 | 99.60 | 70.36 | 793 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-550A-3P | 98.37 | 69.61 | 632 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 12)
- identification and characterization of mouse Mdm2 binding protein (PMID:10906133)
- Data suggest that MTBP differentially regulates the activity of MDM2 towards two of its most critical targets (itself and p53) and in doing so significantly contributes to MDM2-dependent p53 homeostasis in unstressed cells. (PMID:15632057)
- MTBP contributes to MDM2 activity and through this to negative regulation of p53 (PMID:15632057)
- MTBP has an important role in recruiting and/or retaining the Mad1/Mad2 complex at the kinetochores during prometaphase, but its degradation is required for silencing the mitotic checkpoint. (PMID:21274008)
- results represent the first examination of MTBP expression in human tissues and provide evidence for a p53 status-dependent role for MTBP in suppressing disease progression in squamous cell carcinoma of the head and neck patients (PMID:21692053)
- MTBP also inhibited ACTN4-mediated F-actin bundling. (PMID:22370640)
- MTBP acts with Treslin/TICRR to integrate signals from cell cycle and DNA damage response pathways to control the initiation of DNA replication in human cells. (PMID:23704573)
- MTBP associated with MYC at promoters and increased MYC-mediated transcription, proliferation, neoplastic transformation, and tumor development. (PMID:24786788)
- MTBP significantly contributes to breast cancer survival and is a potential novel therapeutic target in Triple-negative breast cancer . (PMID:24866769)
- Overexpression of MTBP resulted in the suppression of the migratory and metastatic potential of Hepatocellular carcinoma cells, while its downregulation increased the migration. (PMID:25759210)
- data show that MTBP aggravates the invasion and metastasis of HCC by promoting the MDM2-mediated degradation of E-cadherin. (PMID:26280083)
- Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication. (PMID:32966791)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mtbp | ENSDARG00000090447 |
| mus_musculus | Mtbp | ENSMUSG00000022369 |
| rattus_norvegicus | Mtbp | ENSRNOG00000004412 |
Protein
Protein identifiers
Mdm2-binding protein — Q96DY7 (reviewed: Q96DY7)
All UniProt accessions (2): Q96DY7, H0YB28
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells. May play a role in MDM2-dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation.
Subunit / interactions. Interacts with MDM2.
Similarity. Belongs to the MTBP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96DY7-1 | 1 | yes |
| Q96DY7-3 | 2 |
RefSeq proteins (1): NP_071328* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029418 | MTBP_C | Domain |
| IPR029420 | MTBP_central | Domain |
| IPR029421 | MTBP_N | Domain |
| IPR039061 | MTBP | Family |
Pfam: PF14918, PF14919, PF14920
UniProt features (12 total): region of interest 4, modified residue 4, splice variant 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DY7-F1 | 63.87 | 0.09 |
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 (4): 597, 639, 703, 707
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9766229 | Degradation of CDH1 |
MSigDB gene sets: 173 (showing top):
GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, AAAYRNCTG_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME_CENTROMERIC_REGION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_REGULATION_OF_CELL_CYCLE
GO Biological Process (6): traversing start control point of mitotic cell cycle (GO:0007089), negative regulation of cell population proliferation (GO:0008285), regulation of protein ubiquitination (GO:0031396), protein localization to kinetochore (GO:0034501), negative regulation of mitotic nuclear division (GO:0045839), regulation of cell cycle (GO:0051726)
GO Molecular Function (0):
GO Cellular Component (2): kinetochore (GO:0000776), chromatin (GO:0000785)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Regulation of CDH1 Function | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of G1/S transition of mitotic cell cycle | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| protein ubiquitination | 1 |
| regulation of protein modification by small protein conjugation or removal | 1 |
| protein localization to chromosome, centromeric region | 1 |
| protein localization to condensed chromosome | 1 |
| regulation of mitotic nuclear division | 1 |
| negative regulation of cell cycle process | 1 |
| negative regulation of mitotic cell cycle | 1 |
| negative regulation of nuclear division | 1 |
| mitotic nuclear division | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| condensed chromosome, centromeric region | 1 |
| intracellular membraneless organelle | 1 |
| supramolecular complex | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1338 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MTBP | TICRR | Q7Z2Z1 | 964 |
| MTBP | MDM2 | Q00987 | 880 |
| MTBP | RECQL4 | O94761 | 719 |
| MTBP | TOPBP1 | Q92547 | 676 |
| MTBP | TBP | P20226 | 593 |
| MTBP | CDC45 | O75419 | 573 |
| MTBP | DHCR24 | Q15392 | 560 |
| MTBP | TP53 | P04637 | 555 |
| MTBP | MYC | P01106 | 551 |
| MTBP | PSMA3 | P25788 | 548 |
| MTBP | MDM4 | O15151 | 520 |
| MTBP | TCHP | Q9BT92 | 518 |
| MTBP | DBF4 | Q9UBU7 | 517 |
| MTBP | AIRIM | Q9NX04 | 472 |
| MTBP | RPL11 | P25121 | 462 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| CDK19 | MED19 | psi-mi:“MI:0914”(association) | 0.770 |
| ZEB2 | MTA2 | psi-mi:“MI:0914”(association) | 0.580 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CDK8 | CCNC | psi-mi:“MI:0914”(association) | 0.350 |
| CCNA2 | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| FKBP5 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MIF | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAB | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAE | DEPDC5 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | BRAF | psi-mi:“MI:0914”(association) | 0.350 |
| S100A2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| MTBP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (60): MTBP (Affinity Capture-MS), MTBP (Biochemical Activity), MTBP (Affinity Capture-MS), MTBP (Affinity Capture-MS), MTBP (Affinity Capture-MS), MTBP (Positive Genetic), MTBP (Positive Genetic), MTBP (Negative Genetic), MTBP (Negative Genetic), MTBP (Negative Genetic), MTBP (Positive Genetic), MTBP (Negative Genetic), MTBP (Negative Genetic), MTBP (Positive Genetic), NDUFB1 (Negative Genetic)
ESM2 similar proteins: A0JMD2, A1L2H3, A2AKX3, A5WUT8, A5WWB6, A6NKB5, B0S6S9, D3Z987, E1BC15, F1MF21, O36397, O60673, O77797, P97412, Q0P4S0, Q15468, Q28DZ0, Q3MHH3, Q3MJ40, Q3V089, Q49AJ0, Q4V7H1, Q4V7J0, Q5CZC0, Q5DTT3, Q5SWW4, Q5VWN6, Q5ZKL9, Q60988, Q61493, Q641I1, Q66HB6, Q6IRT3, Q6NS59, Q6ZP01, Q7Z333, Q80TA9, Q80U59, Q8BJS8, Q92628
Diamond homologs: Q0P4G8, Q6NRW0, Q8BJS8, Q96DY7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 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 |
|---|---|---|---|
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 183.2× | 9e-11 |
| Activation of BAD and translocation to mitochondria | 5 | 173.0× | 5e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 152.7× | 8e-09 |
| Activation of BH3-only proteins | 5 | 112.8× | 3e-08 |
| RHO GTPases activate PKNs | 5 | 72.1× | 2e-07 |
| Intrinsic Pathway for Apoptosis | 5 | 66.5× | 3e-07 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 6 | 42.1× | 2e-07 |
| Transcriptional and post-translational regulation of MITF-M expression and activity | 5 | 40.5× | 2e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 5 | 20.1× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 5 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4543 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:120446428:TTCA:T | acceptor_loss | 1.0000 |
| 8:120446429:TCAG:T | acceptor_loss | 1.0000 |
| 8:120446430:CA:C | acceptor_loss | 1.0000 |
| 8:120446431:A:AG | acceptor_gain | 1.0000 |
| 8:120446432:G:GA | acceptor_gain | 1.0000 |
| 8:120446432:GA:G | acceptor_gain | 1.0000 |
| 8:120446432:GAC:G | acceptor_gain | 1.0000 |
| 8:120446432:GACT:G | acceptor_gain | 1.0000 |
| 8:120446432:GACTT:G | acceptor_gain | 1.0000 |
| 8:120446509:CCCTG:C | donor_gain | 1.0000 |
| 8:120446510:CCTG:C | donor_gain | 1.0000 |
| 8:120446511:CTG:C | donor_gain | 1.0000 |
| 8:120446511:CTGGT:C | donor_loss | 1.0000 |
| 8:120446512:TG:T | donor_gain | 1.0000 |
| 8:120446512:TGGTA:T | donor_loss | 1.0000 |
| 8:120446513:GG:G | donor_gain | 1.0000 |
| 8:120446513:GGTA:G | donor_loss | 1.0000 |
| 8:120446514:G:GG | donor_gain | 1.0000 |
| 8:120446514:GTA:G | donor_loss | 1.0000 |
| 8:120446515:TAAG:T | donor_loss | 1.0000 |
| 8:120451000:A:AG | acceptor_gain | 1.0000 |
| 8:120451001:A:G | acceptor_gain | 1.0000 |
| 8:120451002:G:GG | acceptor_gain | 1.0000 |
| 8:120451002:GCCT:G | acceptor_gain | 1.0000 |
| 8:120451169:A:AG | acceptor_gain | 1.0000 |
| 8:120451170:G:GG | acceptor_gain | 1.0000 |
| 8:120451170:GTTTT:G | acceptor_gain | 1.0000 |
| 8:120451288:GACA:G | donor_gain | 1.0000 |
| 8:120451292:G:GG | donor_gain | 1.0000 |
| 8:120451302:G:GT | donor_gain | 1.0000 |
AlphaMissense
5923 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:120518720:T:A | V838D | 0.995 |
| 8:120456638:T:A | W239R | 0.994 |
| 8:120456638:T:C | W239R | 0.994 |
| 8:120518813:T:C | L869P | 0.994 |
| 8:120522688:T:C | M882T | 0.994 |
| 8:120470898:T:A | W376R | 0.993 |
| 8:120470898:T:C | W376R | 0.993 |
| 8:120518789:T:C | L861P | 0.993 |
| 8:120506807:T:C | F610S | 0.992 |
| 8:120518708:T:C | L834P | 0.992 |
| 8:120518786:G:C | R860P | 0.991 |
| 8:120451186:T:A | W97R | 0.990 |
| 8:120451186:T:C | W97R | 0.990 |
| 8:120518732:T:C | L842P | 0.990 |
| 8:120518099:G:C | R832P | 0.989 |
| 8:120506806:T:C | F610L | 0.988 |
| 8:120506808:T:A | F610L | 0.988 |
| 8:120506808:T:G | F610L | 0.988 |
| 8:120522658:T:C | L872P | 0.988 |
| 8:120518092:C:G | H830D | 0.985 |
| 8:120518776:T:C | C857R | 0.985 |
| 8:120518789:T:A | L861H | 0.985 |
| 8:120518082:A:C | R826S | 0.983 |
| 8:120518082:A:T | R826S | 0.983 |
| 8:120518785:C:A | R860S | 0.983 |
| 8:120522688:T:G | M882R | 0.983 |
| 8:120522689:G:A | M882I | 0.983 |
| 8:120522689:G:C | M882I | 0.983 |
| 8:120522689:G:T | M882I | 0.983 |
| 8:120451048:C:A | A82E | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000057682 (8:120502398 C>A,G,T), RS1000082843 (8:120483270 C>G,T), RS1000109635 (8:120501800 A>T), RS1000133911 (8:120468312 C>T), RS1000193835 (8:120508623 A>G), RS1000264378 (8:120458356 T>C), RS1000274660 (8:120457597 A>G), RS1000303110 (8:120514959 G>A), RS1000332997 (8:120471326 A>G), RS1000364673 (8:120521385 C>T), RS1000382421 (8:120508916 C>A), RS1000513872 (8:120469025 T>G), RS1000538086 (8:120482988 C>T), RS1000581532 (8:120488001 C>A), RS1000609893 (8:120508215 C>G)
Disease associations
OMIM: gene MIM:605927 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004070_21 | Cerebrospinal P-tau181p levels | 7.000000e-06 |
| GCST004071_14 | Cerebrospinal T-tau levels | 4.000000e-06 |
| GCST009391_1798 | Metabolite levels | 8.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004763 | p-tau measurement |
| EFO:0004760 | t-tau measurement |
| EFO:0010449 | 3-methyladipic acid measurement |
| EFO:0010524 | pimelic acid measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 5 |
| bisphenol A | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | affects cotreatment, decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.