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 568
Unique public DNA variants reported 375
Individuals with public variants 764
Hidden variants 264
Download all this gene's data Download all data
Date created July 18, 2008
Date last updated August 06, 2020
Version GNAS:200806

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
External URL Orphanet
HGNC 4392
Entrez Gene 2778
PubMed articles GNAS
OMIM - Gene 139320
OMIM - Diseases AIMAH-1 (hyperplasia, adrenal, ACTH-independent, macronodular, type 1 (AIMAH-1))
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))
GeneCards GNAS
GeneTests GNAS

Active transcripts




NCBI ID     

NCBI Protein ID     

00024002 20 transcript variant 6 NM_001077488.2 NP_001070956.1 567
00024158 20 transcript variant 1 NM_000516.4 NP_000507.1 270
00024010 20 transcript variant 4 NM_016592.2 NP_057676.1 229
00025229 20 transcript variant 2 NM_080425.2 NP_536350.2 184
00025228 20 transcript variant 2 NM_001077490.1 NP_001070958.1 183

Copyright & disclaimer
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