Gene table of GNAS : GNAS complex locus

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GNAS	OMIM link	Number of associated genes	genes
166350	OSSEOUS HETEROPLASIA, PROGRESSIVE	OMIM, HUMSAVAR	link to OMIM	1	GNAS
103580	PSEUDOHYPOPARATHYROIDISM, TYPE IA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNAS
612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	ClinVar, OMIM	link to OMIM	1	GNAS
612462	PSEUDOHYPOPARATHYROIDISM, TYPE IC	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNAS
174800	MCCUNE-ALBRIGHT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNAS
603233	PSEUDOHYPOPARATHYROIDISM, TYPE IB	ClinVar, OMIM	link to OMIM	3	STX16, GNAS, GNAS-AS1
219090	PITUITARY ADENOMA, ACTH-SECRETING	ClinVar	link to OMIM	4	USP8, AIP, GNAS, GNAI2
219080	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNAS
102200	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1	ClinVar, OMIM	link to OMIM	2	GNAS, AIP

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Annotation of the gene GNAS

Associated genes in ENSEMBL

ENSG00000087460

Associated proteins - SwissProt Accession ID

Associated PDB IDs

5g53

Cytogenetic Band

20q13.32

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

GATA1

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Platelet activation	hsa04611	5.66
Calcium signaling pathway	hsa04020	5.22
Estrogen signaling pathway	hsa04915	6.11
cAMP signaling pathway	hsa04024	5.05
Taste transduction	hsa04742	6.99
Serotonergic synapse	hsa04726	5.84
Dopaminergic synapse	hsa04728	5.69
Dilated cardiomyopathy	hsa05414	6.08
Oxytocin signaling pathway	hsa04921	5.4
Vasopressin-regulated water reabsorption	hsa04962	7.18
Endocrine and other factor-regulated calcium reabsorption	hsa04961	7.12
Chagas disease (American trypanosomiasis)	hsa05142	5.99
Amoebiasis	hsa05146	5.82
Vascular smooth muscle contraction	hsa04270	5.74
Gap junction	hsa04540	6.24
Pathways in cancer	hsa05200	3.98
GnRH signaling pathway	hsa04912	6.18
Ovarian steroidogenesis	hsa04913	7.07
Rap1 signaling pathway	hsa04015	4.97
Insulin secretion	hsa04911	6.18
Melanogenesis	hsa04916	5.97
Vibrio cholerae infection	hsa05110	6.86
Thyroid hormone synthesis	hsa04918	6.56
Circadian entrainment	hsa04713	6.11
Long-term depression	hsa04730	6.74
Salivary secretion	hsa04970	6.23
Gastric acid secretion	hsa04971	6.48
Pancreatic secretion	hsa04972	6.07
Bile secretion	hsa04976	6.56
Morphine addiction	hsa05032	6.15
Cocaine addiction	hsa05030	7.07
Amphetamine addiction	hsa05031	6.62
Alcoholism	hsa05034	5.59
Inflammatory mediator regulation of TRP channels	hsa04750	6.07
Adrenergic signaling in cardiomyocytes	hsa04261	5.44
Glutamatergic synapse	hsa04724	5.84

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
G alpha (i) signalling events	R-HSA-418594	5.1
G alpha (z) signalling events	R-HSA-418597	7.46
Transmembrane transport of small molecules	R-HSA-382551	3.79
Metabolism	R-HSA-1430728	2.34
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	R-HSA-381676	7.59
Signaling by Hedgehog	R-HSA-5358351	5.79
Vasopressin regulates renal water homeostasis via Aquaporins	R-HSA-432040	7.56
G alpha (s) signalling events	R-HSA-418555	5.99
Hedgehog 'off' state	R-HSA-5610787	6.19
PKA activation in glucagon signalling	R-HSA-164378	8.89
Platelet homeostasis	R-HSA-418346	6.68
GPCR ligand binding	R-HSA-500792	4.19
Prostacyclin signalling through prostacyclin receptor	R-HSA-392851	8.73
GPCR downstream signaling	R-HSA-388396	3.07
Integration of energy metabolism	R-HSA-163685	6.24
Aquaporin-mediated transport	R-HSA-445717	7.31
Glucagon signaling in metabolic regulation	R-HSA-163359	7.94
Class B/2 (Secretin family receptors)	R-HSA-373080	6.52
Regulation of insulin secretion	R-HSA-422356	6.66
Glucagon-type ligand receptors	R-HSA-420092	8.08
Signaling by GPCR	R-HSA-372790	2.68
Hemostasis	R-HSA-109582	3.98
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
adrenergic receptor binding	GO:0031690	6.85
purine ribonucleoside triphosphate binding	GO:0035639	2.22
mu-type opioid receptor binding	GO:0031852	8.35
beta-2 adrenergic receptor binding	GO:0031698	8.13
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
G-protein coupled receptor binding	GO:0001664	4.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
pyrophosphatase activity	GO:0016462	3.04
ion binding	GO:0043167	1.36
guanyl ribonucleotide binding	GO:0032561	3.73
corticotropin-releasing hormone receptor 1 binding	GO:0051430	8.35
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
GTP binding	GO:0005525	3.78
hydrolase activity	GO:0016787	1.9
G-protein beta/gamma-subunit complex binding	GO:0031683	6.65
D1 dopamine receptor binding	GO:0031748	7.66
insulin-like growth factor receptor binding	GO:0005159	7.03
GTPase activity	GO:0003924	4.31
nucleoside-triphosphatase activity	GO:0017111	3.09
ionotropic glutamate receptor binding	GO:0035255	6.56
glutamate receptor binding	GO:0035254	6.13
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
peptide hormone receptor binding	GO:0051428	6.91
corticotropin-releasing hormone receptor binding	GO:0051429	7.95
neuropeptide receptor binding	GO:0071855	6.37
hormone receptor binding	GO:0051427	4.57
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
opioid receptor binding	GO:0031628	7.54
guanyl nucleotide binding	GO:0019001	3.73
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
dopamine receptor binding	GO:0050780	6.85
receptor binding	GO:0005102	2.43
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19