Early Detection Research Network

GNAS

Aliases:
This biomarker is also known as:
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide 1,
  • GSP,
  • Neuroendocrine Secretory Protein 55,
  • NESP,
  • Extra Large Alphas Protein,
  • Protein ALEX,
  • XLalphas,
  • Guanine Nucleotide Regulatory Protein,
  • Neuroendocrine Secretory Protein,
  • SCG6,
  • NESP55,
  • Alternative Gene Product Encoded By XL-Exon,
  • GNAS Complex Locus,
  • GSA,
  • Protein SCG6 (Secretogranin VI),
  • GNAS1,
  • SgVI,
  • GPSA,
  • Adenylate Cyclase-Stimulating G Alpha Protein,
  • PITA3,
  • GNAS,
  • POH,
  • Secretogranin VI,
  • Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms Short,
  • Protein GNAS,
  • C20orf45,
  • G Protein Subunit Alpha S,
  • AHO,
  • Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas,

Description…

From NCBI Gene: 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]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Proteomic
HGNC Name: GNAS

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

Version 5.0.2