MBD5-ACVR2A Fusion FISH Probe
The MBD5-ACVR2A Fusion FISH Probe is used to confirm a fusion of the MBD5 and ACVR2A genes. The fusion of the MBD5 and ACVR2A genes has been associated with Head And Neck Squamous Cell Carcinoma . These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.
** This product is for in vitro and research use only. This product is not intended for diagnostic use. Please note that both genes fall on the same chromosome and inter-chromosomal detection may be difficult to detect depending on the genes proximity to one another. Please consult our support staff before ordering this product to ensure that the probe can be designed to meet your specific needs.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| MBD5-ACVR2A-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-RERE | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-REOR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-REGO | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-REGR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-REAQ | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-ORRE | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-OROR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-ORGO | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-ORAQ | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GORE | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GOOR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GOGO | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GOGR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GOAQ | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GRRE | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GROR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GRGO | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GRGR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-GRAQ | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-AQRE | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-AQOR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-AQGO | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-AQGR | 20 (40 μL) | 200 μL |
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| MBD5-ACVR2A-20-AQAQ | 20 (40 μL) | 200 μL |
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ACVR2A Gene Summary
This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
Gene Name: Activin A Receptor Type 2A
Chromosome: CHR2: 148602569 -148688393
Locus: 2q22.3-q23.1
MBD5 Gene Summary
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]
Gene Name: Methyl-CpG Binding Domain Protein 5
Chromosome: CHR2: 148778579 -149271044
Locus: 2q23.1
Gene Diseases
The MBD5 ACVR2A Fusion has been associated with the following diseases:
| Disease Name |
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| Head And Neck Squamous Cell Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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