Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

GNAS

Aliases

AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI

Entrez Gene ID

2778

Gene Name

GNAS complex locus

Chromosomal Location

20q13.32

HGNC ID

4392

RefSeq DNA

NG_016194.2

RefSeq mRNA

NM_001077488.4, NR_132272.2, NR_132273.1, NM_000516.7, NM_016592.5, NM_080425.3, NM_080426.4, NM_001077488.5, NM_001077489.4, NM_001077490.2, NM_001309840.2, NM_001309842.2, NM_001309861.2, NM_001309883.1

e!Ensembl

Gene	ENSG00000087460
Transcript	ENST00000313949, ENST00000371098, ENST00000371075, ENST00000667293, ENST00000657090, ENST00000453292, ENST00000419558, ENST00000491348, ENST00000472183, ENST00000462499, ENST00000482112, ENST00000663479, ENST00000493744, ENST00000490374, ENST00000467227, ENST00000371100, ENST00000371099, ENST00000371102, ENST00000464624, ENST00000306120, ENST00000481768, ENST00000450130, ENST00000349036, ENST00000423897, ENST00000464960, ENST00000488546, ENST00000481039, ENST00000468895, ENST00000467321, ENST00000477931, ENST00000485673, ENST00000470512, ENST00000464788, ENST00000469431, ENST00000478585, ENST00000604005, ENST00000480975, ENST00000480232, ENST00000484504, ENST00000461152, ENST00000371095, ENST00000371085, ENST00000354359, ENST00000265620, ENST00000371081, ENST00000338783, ENST00000488652, ENST00000476935, ENST00000492907, ENST00000603546, ENST00000483387, ENST00000487862, ENST00000496934, ENST00000476196, ENST00000494081, ENST00000487981, ENST00000493958, ENST00000656419, ENST00000479025, ENST00000475610, ENST00000306090
Protein	ENSP00000323571, ENSP00000360139, ENSP00000360115, ENSP00000499293, ENSP00000499380, ENSP00000392000, ENSP00000416234, ENSP00000499272, ENSP00000499673, ENSP00000499758, ENSP00000499794, ENSP00000499353, ENSP00000499376, , ENSP00000499681, ENSP00000360141, ENSP00000360140, ENSP00000360143, ENSP00000499607, ENSP00000302237, ENSP00000499644, ENSP00000412424, ENSP00000265621, ENSP00000412356, ENSP00000499613, ENSP00000499332, ENSP00000499767, ENSP00000499551, ENSP00000499523, ENSP00000499660, ENSP00000499334, ENSP00000499552, ENSP00000499239, ENSP00000499654, ENSP00000499762, ENSP00000474219, ENSP00000499392, ENSP00000499545, ENSP00000499259, ENSP00000499274, ENSP00000360136, ENSP00000360126, ENSP00000346328, ENSP00000265620, ENSP00000360122, ENSP00000345971, ENSP00000499435, ENSP00000499409, ENSP00000499443, ENSP00000474802, ENSP00000499352, ENSP00000499614, ENSP00000304472

SNPs

SNP	SNP ID	Associated disease	References
Cys174Tyr		Gonadotropin Independent Precocious Puberty	31362300
A366S	rs137854537	Testotoxicosis	8809352

Gene Ontology (GO)

Show/Hide all(23 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007188	Biological process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	12719376
GO:0007191	Biological process	Adenylate cyclase-activating dopamine receptor signaling pathway	IBA	21873635
GO:0007606	Biological process	Sensory perception of chemical stimulus	IBA	21873635
GO:0048589	Biological process	Developmental growth	IMP	12719376
GO:0060348	Biological process	Bone development	IMP	12719376
GO:0070527	Biological process	Platelet aggregation	IMP	12719376
GO:0120162	Biological process	Positive regulation of cold-induced thermogenesis	ISS	20374964
GO:0005829	Cellular component	Cytosol	IDA	12719376
GO:0005834	Cellular component	Heterotrimeric G-protein complex	IBA	21873635
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0016020	Cellular component	Membrane	IDA	12719376
GO:0070062	Cellular component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:0001664	Molecular function	G protein-coupled receptor binding	IBA	21873635
GO:0003924	Molecular function	GTPase activity	IBA	21873635
GO:0005159	Molecular function	Insulin-like growth factor receptor binding	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	12719376, 23353685
GO:0031683	Molecular function	G-protein beta/gamma-subunit complex binding	IBA	21873635
GO:0031698	Molecular function	Beta-2 adrenergic receptor binding	IBA	21873635
GO:0031748	Molecular function	D1 dopamine receptor binding	IBA	21873635
GO:0031852	Molecular function	Mu-type opioid receptor binding	IBA	21873635
GO:0035255	Molecular function	Ionotropic glutamate receptor binding	IBA	21873635
GO:0051430	Molecular function	Corticotropin-releasing hormone receptor 1 binding	IBA	21873635

Protein Information

Protein Name

Protein ALEX, protein GNAS, protein SCG6 (secretogranin VI), G protein subunit alpha S, adenylate cyclase-stimulating G alpha protein, alternative gene product encoded by XL-exon, extra large alphas protein, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1, guanine nucleotide regulatory protein, guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas, neuroendocrine secretory protein, secretogranin VI

Function

|Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161). .|May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame. .|Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).

Refseq Proteins

NP_001070956.1, , NP_000507.1, NP_057676.1, NP_536350.2, NP_536351.1, NP_001070957.1, NP_001070958.1, NP_001296769.1, NP_001296771.1, NP_001296790.1, NP_001296812.1

UniProt

O95467|P63092|P84996|Q5JWF2