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 540
Unique public DNA variants reported 355
Individuals with public variants 649
Hidden variants 158
Download all this gene's data Download all data
Date created July 18, 2008
Date last updated July 27, 2019
Version GNAS:190727

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
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))
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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024002 20 transcript variant 6 NM_001077488.2 NP_001070956.1 537
00024158 20 transcript variant 1 NM_000516.4 NP_000507.1 240
00024010 20 transcript variant 4 NM_016592.2 NP_057676.1 201
00025229 20 transcript variant 2 NM_080425.2 NP_536350.2 156
00025228 20 transcript variant 2 NM_001077490.1 NP_001070958.1 155


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