Author: Nat Pernick, M.D. (see Authors page)

Revised: 18 December 2015, last major update October 2013

Copyright: (c) 2003-2015,, Inc.

PubMed Search: GNAS[title]
Cite this page: GNAS. website. Accessed May 21st, 2018.
Definition / general
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity
  • Stimulatory G-protein alpha subunit, a key component of many signal transduction pathways (GeneCards, US National Library of Medicine)
  • Appendix: low-grade mucinous neoplasms (mutations in 50%, Br J Cancer 2013;108:951)
  • Colorectum - villous adenoma: activating GNAS mutations in 83% (J Pathol 2012;228:113)
  • McCune-Albright syndrome: caused by somatic activating GNAS mutations; mutant-specific enrichment procedures required to detect in peripheral blood (PLoS One 2013;8:e60525); in contrast, no mutations in Peutz-Jeghers syndrome (Fam Cancer 2013;12:581)
  • Bile duct - IPMN: frequently mutated in subset with intestinal differentiation, villous architecture, mucin hypersecretion and often KRAS mutation (Am J Surg Pathol 2013;37:1862)
  • Bone - fibrous dysplasia: mutations in 72-86%; usually missense mutations R201H (66%) and R201C (31%) (Hum Pathol 2012;43:1234); not found in other fibro-osseous lesions (Mod Pathol 2013;26:911)
  • Blood - regulates erythrocyte invasion by Plasmodium falciparum parasites and population specific polymorphisms may alter its risk of occurrence (Acta Trop 2013;128:571)
  • Parathyroid: inactivating mutations cause pseudohypoparathyroidism type Ia when maternally inherited and pseudopseudohypoparathyroidism / progressive osseous heteroplasia when paternally inherited (J Clin Endocrinol Metab 2013;98:E1549)
  • Pancreas - IPMN: mutations in 41-61% (intestinal-100 %, pancreaticobiliary-71%, gastric-51%, oncocytic-0%, Ann Surg Oncol 2013;20:3802, Sci Rep 2011;1:161); mutations also detected in duodenal collections of secretin-stimulated pancreatic juice (Gut 2013;62:1024)
  • Testis - Leydig cell tumor (rare, J Androl 2012;33:578)
Uses by pathologists
Microscopic (histologic) images

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Pancreas: islet cells

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Pancreas: IPMN (fig A-C)