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_001077488.2, NM_001077490.1, NM_016592.2, NM_080425.2
Exon/intron information NM_001077488.2 exon/intron table
Associated with diseases AIMAH-1, ID, MAS, PAGH-1, PHP-1A, PHP-1B, PHP-1C, 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 647
Unique public DNA variants reported 425
Individuals with public variants 771
Hidden variants 290
Download all this gene's data Download all data
Date created July 18, 2008
Date last updated September 17, 2021
Version GNAS:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001077488.2.
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 http://www.LOVD.nl/GNAS
HGNC 4392
Entrez Gene 2778
PubMed articles GNAS
OMIM - Gene 139320
OMIM - Diseases AIMAH-1 (hyperplasia, adrenal, ACTH-independent, macronodular, type 1 (AIMAH-1))
MAS (POFD)
PAGH-1 (adenoma, pituitary, growth hormone-secreting, type 1 (PAGH-1, acromegaly))
PHP-1A (pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO)))
PHP-1B (pseudohypoparathyroidism, type Ib (PHP-1B))
PHP-1C (pseudohypoparathyroidism, type Ic (PHP-1C))
POH (heteroplasia, osseous, progressive (POH))
PPHP (pseudopseudohypoparathyroidism (PPHP))
HGMD GNAS
GeneCards GNAS
GeneTests GNAS
Orphanet GNAS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024002 20 transcript variant 6 NM_001077488.2 NP_001070956.1 643
00024158 20 transcript variant 1 NM_000516.4 NP_000507.1 345
00024010 20 transcript variant 4 NM_016592.2 NP_057676.1 303
00025229 20 transcript variant 2 NM_080425.2 NP_536350.2 260
00025228 20 transcript variant 2 NM_001077490.1 NP_001070958.1 257


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.