The GNAS gene homepage

General information
Gene symbol GNAS
Gene name GNAS complex locus
Chromosome 20
Chromosomal band q13.2-q13.3
Imprinted Unknown
Genomic reference NG_016194.1
Transcript reference NM_000516.4, NM_016592.2, NM_080425.2
Associated with diseases AIMAH1, ID, MAS, PAGH1, PHP1A, PHP1B, PHP1C, PITA3, POH, PPHP, bleeding time, prolonged, brachydactyly and mental retardation
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (3) Francesca Marta Elli, Giovanna Mantovani, and Guiomar Perez de Nanclares
Total number of public variants reported 412
Unique public DNA variants reported 285
Individuals with public variants 240
Hidden variants 162
Download all this gene's data Download all data
Date created July 18, 2008
Date last updated April 16, 2023
Version GNAS:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 4392
Entrez Gene 2778
PubMed articles GNAS
OMIM - Gene 139320
OMIM - Diseases AIMAH1 (hyperplasia, adrenal, ACTH-independent, macronodular, type 1 (AIMAH-1))
PAGH1 (pituitary adenoma, type 1, multiple types (PITA1))
PHP1A (pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO)))
PHP1B (pseudohypoparathyroidism, type Ib (PHP-1B))
PHP1C (pseudohypoparathyroidism, type Ic (PHP-1C))
PITA3 (Pituitary adenoma 3, multiple types, somatic)
POH (heteroplasia, osseous, progressive (POH))
PPHP (pseudopseudohypoparathyroidism (PPHP))
GeneCards GNAS
GeneTests GNAS
Orphanet GNAS

Active transcripts




NCBI ID     

NCBI Protein ID     

00024158 20 transcript variant 1 NM_000516.4 NP_000507.1 402
00024010 20 transcript variant 4 NM_016592.2 NP_057676.1 352
00025229 20 transcript variant 2 NM_080425.2 NP_536350.2 311

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