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Most cancer tissues showed weak to moderate cytoplasmic positivity, with additional membranous or nuclear staining in several cases. Strong membranous and cytoplasmic immunoreactivity was observed in several cases of cholangiocarcinomas, colorectal, stomach and pancreatic cancers.
Most cancer tissues showed weak cytoplasmic positivity. Malignant gliomas and renal cancers showed moderate to strong positivity. Melanoma thyroid, breast, ovarian and urothelial cancers were moderately stained in several cases.
GENE INFORMATION
Gene name
GNAS (HGNC Symbol)
Synonyms
GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI
Description
GNAS complex locus (HGNC Symbol)
Entrez 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]
O95467 (UniProt - Evidence at transcript level), P63092 (UniProt - Evidence at protein level), P84996 (UniProt - Evidence at protein level), Q5JWF2 (UniProt - Evidence at protein level)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Ezkurdia et al 2014)
P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
A2A2R6 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
A2A2S1 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
H0Y7Z6 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
P63092 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
H0Y7F4 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
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Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Q5JWE9 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Q5JWD1 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
H0Y7E8 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Ezkurdia et al 2014)
X6R7U9 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
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Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
S4R3V9 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
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Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
S4R3E3 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
A0A0A0MR13 [Direct mapping] Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Show all
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)