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GNAS-ARFGEF2 Fusion FISH Probe

The GNAS-ARFGEF2 Fusion FISH Probe is used to confirm a fusion of the GNAS and ARFGEF2 genes. The fusion of the GNAS and ARFGEF2 genes has been associated with Kidney Chromophobe. 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.

Turnaround Time: 7-10 Business Days    Shipping Time: 1-2 Day Expedited Shipping

SKU Test Kits Buffer Dye Color Order Now
GNAS-ARFGEF2-20-ORGR  (Standard Design) 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-RERE 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-REOR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-REGO 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-REGR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-REAQ 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-ORRE 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-OROR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-ORGO 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-ORAQ 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GORE 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GOOR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GOGO 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GOGR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GOAQ 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GRRE 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GROR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GRGO 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GRGR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-GRAQ 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-AQRE 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-AQOR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-AQGO 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-AQGR 20 (40 μL) 200 μL
GNAS-ARFGEF2-20-AQAQ 20 (40 μL) 200 μL

GNAS Gene Summary

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

Gene Name: GNAS Complex Locus

Chromosome: CHR20: 57414794 -57486250

Locus: 20q13.32

ARFGEF2 Gene Summary

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

Gene Name: ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2

Chromosome: CHR20: 47538274 -47653230

Locus: 20q13.13

Gene Diseases

The GNAS ARFGEF2 Fusion has been associated with the following diseases:

Disease Name
Kidney Chromophobe

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Customer Publications

There are currently no FISH related publications for this probe.