| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:P2RX4_CAMKK2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: P2RX4_CAMKK2 | KinaseFusionDB ID: KFG4383 | FusionGDB2.0 ID: KFG4383 | Hgene | Tgene | Gene symbol | P2RX4 | CAMKK2 | Gene ID | 5025 | 10645 | |
| Gene name | purinergic receptor P2X 4 | calcium/calmodulin dependent protein kinase kinase 2 | ||||||||||
| Synonyms | P2X4|P2X4R | CAMKK|CAMKKB | ||||||||||
| Cytomap | 12q24.31 | 12q24.31 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | P2X purinoceptor 4ATP receptorATP-gated cation channel proteinP2X receptor, subunit 4purinergic receptor P2X, ligand gated ion channel, 4purinergic receptor P2X4purinoceptor P2X4 | calcium/calmodulin-dependent protein kinase kinase 2CAMKK beta proteincaM-KK 2caM-KK betacaM-kinase kinase 2caM-kinase kinase betacalcium/calmodulin-dependent protein kinase betacalcium/calmodulin-dependent protein kinase kinase 2, beta | ||||||||||
| Modification date | 20240305 | 20240403 | ||||||||||
| UniProtAcc | Q99571 | Q96RR4 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000540930, ENST00000337233, ENST00000359949, ENST00000541532, ENST00000543171, | ENST00000324774, ENST00000337174, ENST00000347034, ENST00000392473, ENST00000402834, ENST00000404169, ENST00000412367, ENST00000446440, ENST00000535524, ENST00000538733, ENST00000392474, ENST00000545538, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: P2RX4 [Title/Abstract] AND CAMKK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | P2RX4(121648101)-CAMKK2(121712388), # samples:1 | |||||||||||
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | P2RX4 | GO:0007165 | signal transduction | 9016352 |
| Hgene | P2RX4 | GO:0010524 | positive regulation of calcium ion transport into cytosol | 10969036 |
| Hgene | P2RX4 | GO:0033198 | response to ATP | 9016352 |
| Hgene | P2RX4 | GO:0034220 | monoatomic ion transmembrane transport | 10515189 |
| Hgene | P2RX4 | GO:0034405 | response to fluid shear stress | 10969036 |
| Hgene | P2RX4 | GO:0050850 | positive regulation of calcium-mediated signaling | 10969036 |
| Hgene | P2RX4 | GO:0051899 | membrane depolarization | 9016352 |
| Hgene | P2RX4 | GO:0070588 | calcium ion transmembrane transport | 9016352 |
| Hgene | P2RX4 | GO:0071318 | cellular response to ATP | 10515189 |
| Hgene | P2RX4 | GO:0097190 | apoptotic signaling pathway | 17264311 |
| Tgene | CAMKK2 | GO:0006468 | protein phosphorylation | 11395482 |
| Tgene | CAMKK2 | GO:0046777 | protein autophosphorylation | 11395482 |
| Kinase Fusion gene breakpoints across P2RX4 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across CAMKK2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-FA-A7Q1 | P2RX4 | chr12 | 121648101 | CAMKK2 | chr12 | 121712388 |
Top |
Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
Top |
Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
Top |
Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:121648101/:121712388) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| P2RX4 | CAMKK2 |
| FUNCTION: ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:9016352). Activated by extracellularly released ATP, it plays multiple role in immunity and central nervous system physiology (PubMed:35165166). Plays a key role in initial steps of T-cell activation and Ca(2+) microdomain formation (By similarity). Participates also in basal T-cell activity without TCR/CD3 stimulation (By similarity). Promotes the differentiation and activation of Th17 cells via expression of retinoic acid-related orphan receptor C/RORC (PubMed:35165166). Upon activation, drives microglia motility via the PI3K/Akt pathway (By similarity). Could also function as an ATP-gated cation channel of lysosomal membranes (By similarity). {ECO:0000250|UniProtKB:P51577, ECO:0000250|UniProtKB:Q9JJX6, ECO:0000269|PubMed:35165166, ECO:0000269|PubMed:9016352}. | FUNCTION: Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin-binding domain are inactive. Efficiently phosphorylates 5'-AMP-activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals (By similarity). Seems to be involved in hippocampal activation of CREB1 (By similarity). May play a role in neurite growth. Isoform 3 may promote neurite elongation, while isoform 1 may promoter neurite branching. {ECO:0000250, ECO:0000269|PubMed:11395482, ECO:0000269|PubMed:12935886, ECO:0000269|PubMed:21957496, ECO:0000269|PubMed:9662074}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
Top |
Kinase-Substrate Information of P2RX4_CAMKK2 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| CAMKK2 | Q96RR4 | human | SIRT1 | Q96EB6 | S47 | DGPGLERsPGEPGGA | |
| CAMKK2 | Q96RR4 | human | PRKAA1 | Q13131 | T183 | sDGEFLRtsCGsPNy | Pkinase |
| CAMKK2 | Q96RR4 | human | SIRT1 | Q96EB6 | S27 | ADREAAssPAGEPLR | |
| CAMKK2 | Q96RR4 | human | CAMKK2 | Q96RR4 | T85 | GQEVPLDtSGSQARP | |
| CAMKK2 | Q96RR4 | human | PRKAA2 | P54646 | T172 | sDGEFLRtsCGsPNy | Pkinase |
| CAMKK2 | Q96RR4 | human | AKT1 | P31749 | T308 | kDGAtMKtFCGtPEy | Pkinase |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| CAMKK2 | ID | Description | 0.00e+00 |
| CAMKK2 | GO:0034599 | cellular response to oxidative stress | 3.92e-07 |
| CAMKK2 | GO:0062197 | cellular response to chemical stress | 4.74e-07 |
| CAMKK2 | GO:0045913 | positive regulation of carbohydrate metabolic process | 4.74e-07 |
| CAMKK2 | GO:0010506 | regulation of autophagy | 5.19e-07 |
| CAMKK2 | GO:1901655 | cellular response to ketone | 6.30e-07 |
| CAMKK2 | GO:0006979 | response to oxidative stress | 6.30e-07 |
| CAMKK2 | GO:0071380 | cellular response to prostaglandin E stimulus | 6.46e-07 |
| CAMKK2 | GO:0055089 | fatty acid homeostasis | 6.86e-07 |
| CAMKK2 | GO:0071379 | cellular response to prostaglandin stimulus | 1.19e-06 |
| CAMKK2 | GO:0032006 | regulation of TOR signaling | 1.33e-06 |
| CAMKK2 | GO:0062013 | positive regulation of small molecule metabolic process | 1.33e-06 |
| CAMKK2 | GO:0034695 | response to prostaglandin E | 1.33e-06 |
| CAMKK2 | GO:0010508 | positive regulation of autophagy | 1.33e-06 |
| CAMKK2 | GO:0034614 | cellular response to reactive oxygen species | 1.37e-06 |
| CAMKK2 | GO:2000756 | regulation of peptidyl-lysine acetylation | 1.66e-06 |
| CAMKK2 | GO:0031929 | TOR signaling | 1.66e-06 |
| CAMKK2 | GO:0034694 | response to prostaglandin | 2.35e-06 |
| CAMKK2 | GO:0006109 | regulation of carbohydrate metabolic process | 2.38e-06 |
| CAMKK2 | GO:0090311 | regulation of protein deacetylation | 2.78e-06 |
| CAMKK2 | GO:0000302 | response to reactive oxygen species | 3.03e-06 |
| CAMKK2 | GO:1901654 | response to ketone | 3.06e-06 |
| CAMKK2 | GO:1901983 | regulation of protein acetylation | 4.20e-06 |
| CAMKK2 | GO:0042593 | glucose homeostasis | 5.80e-06 |
| CAMKK2 | GO:0033500 | carbohydrate homeostasis | 5.80e-06 |
| CAMKK2 | GO:0042149 | cellular response to glucose starvation | 6.31e-06 |
| CAMKK2 | GO:0006476 | protein deacetylation | 9.55e-06 |
| CAMKK2 | GO:0035601 | protein deacylation | 1.43e-05 |
| CAMKK2 | GO:0018394 | peptidyl-lysine acetylation | 1.44e-05 |
| CAMKK2 | GO:0098732 | macromolecule deacylation | 1.49e-05 |
| CAMKK2 | GO:0062012 | regulation of small molecule metabolic process | 1.49e-05 |
| CAMKK2 | GO:0032007 | negative regulation of TOR signaling | 1.68e-05 |
| CAMKK2 | GO:0097009 | energy homeostasis | 1.91e-05 |
| CAMKK2 | GO:0031331 | positive regulation of cellular catabolic process | 2.58e-05 |
| CAMKK2 | GO:0006631 | fatty acid metabolic process | 2.63e-05 |
| CAMKK2 | GO:1903432 | regulation of TORC1 signaling | 2.98e-05 |
| CAMKK2 | GO:0038202 | TORC1 signaling | 3.41e-05 |
| CAMKK2 | GO:0031400 | negative regulation of protein modification process | 3.41e-05 |
| CAMKK2 | GO:0097306 | cellular response to alcohol | 3.73e-05 |
| CAMKK2 | GO:0006473 | protein acetylation | 3.97e-05 |
| CAMKK2 | GO:0045833 | negative regulation of lipid metabolic process | 4.57e-05 |
| CAMKK2 | GO:0031667 | response to nutrient levels | 5.06e-05 |
| CAMKK2 | GO:0032070 | regulation of deoxyribonuclease activity | 5.19e-05 |
| CAMKK2 | GO:1903943 | regulation of hepatocyte apoptotic process | 5.19e-05 |
| CAMKK2 | GO:1904179 | positive regulation of adipose tissue development | 5.19e-05 |
| CAMKK2 | GO:0008286 | insulin receptor signaling pathway | 5.65e-05 |
| CAMKK2 | GO:0099004 | calmodulin dependent kinase signaling pathway | 6.07e-05 |
| CAMKK2 | GO:0043467 | regulation of generation of precursor metabolites and energy | 7.45e-05 |
| CAMKK2 | GO:1903008 | organelle disassembly | 8.46e-05 |
| CAMKK2 | GO:0043543 | protein acylation | 8.46e-05 |
Top |
Related Drugs to P2RX4_CAMKK2 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning P2RX4-CAMKK2 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
Top |
Related Diseases to P2RX4_CAMKK2 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Top |
Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |