BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GNAS
Previous Symbol	GNAS1
Symbol Alias	NESP55, NESP, GNASXL, GPSA, SCG6
Approved Name	GNAS complex locus
Previous Name	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1
Name Alias	secretogranin VI
Location	20q13.2-q13.3
Position	chr20:58839718-58911192, 1
External Links	HGNC: 4392 Entrez Gene: 2778 Ensembl: ENSG00000087460 UCSC: uc002xzt.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McDonald, M. L.,2012	SNP: rs35113254, rs6026565, rs6064714	None of the association tests of the tagSNPs with either BPD I or BPD II reached genome-wide significance (P < 5E-08).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 71)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001958	endochondral ossification	biological process	IEA	3
GO:0016020	membrane	cellular component	IDA[12719376]; ISS	137
GO:0005159	insulin-like growth factor receptor binding	molecular function	IBA	5
GO:0004871	signal transducer activity	molecular function	IBA; IDA[12391161]	32
GO:0005634	nucleus	cellular component	IDA[20862257]	283
GO:0007565	female pregnancy	biological process	NAS[10729789]	15
GO:0005886	plasma membrane	cellular component	IEA; TAS[9727013]	360

GO terms by database search (count: 64)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030133	transport vesicle	cellular component	IEA	4
GO:0035116	embryonic hindlimb morphogenesis	biological process	IEA	2
GO:0006112	energy reserve metabolic process	biological process	IEA; TAS	19
GO:0051430	corticotropin-releasing hormone receptor 1 binding	molecular function	IBA	2
GO:0006833	water transport	biological process	TAS	9
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	biological process	IBA; ISS	5
GO:0007606	sensory perception of chemical stimulus	biological process	IBA	14
GO:0005834	heterotrimeric G-protein complex	cellular component	IBA; ISS; TAS[9159128]	6
GO:0035255	ionotropic glutamate receptor binding	molecular function	IBA	8
GO:0035264	multicellular organism growth	biological process	IEA	9
GO:0050890	cognition	biological process	IDA[12719376]; IMP[12719376]	11
GO:0043950	positive regulation of cAMP-mediated signaling	biological process	IDA[12391161]	2
GO:0071377	cellular response to glucagon stimulus	biological process	TAS	7
GO:0003674	molecular_function	molecular function	ND	24
GO:0030819	positive regulation of cAMP biosynthetic process	biological process	IDA[12391161]	5
GO:0006171	cAMP biosynthetic process	biological process	TAS	6
GO:0031698	beta-2 adrenergic receptor binding	molecular function	IBA	2
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	biological process	IDA[12391161]	1
GO:0048471	perinuclear region of cytoplasm	cellular component	IDA[21584660]	50
GO:0070527	platelet aggregation	biological process	IDA[12719376]; IMP[12719376]	4
GO:0071514	genetic imprinting	biological process	IEA	1
GO:0040015	negative regulation of multicellular organism growth	biological process	ISS	2
GO:0007608	sensory perception of smell	biological process	TAS[3018580]	8
GO:0007596	blood coagulation	biological process	TAS	44
GO:0005515	protein binding	molecular function	IPI[20852621]	563
GO:0048701	embryonic cranial skeleton morphogenesis	biological process	IEA	3
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0043547	positive regulation of GTPase activity	biological process	IDA[12391161]	30
GO:0005576	extracellular region	cellular component	IEA	97
GO:0060789	hair follicle placode formation	biological process	IDA[12719376]; IMP[12719376]	1
GO:0071870	cellular response to catecholamine stimulus	biological process	ISS	3
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0005737	cytoplasm	cellular component	IDA[20862257]	322
GO:0031683	G-protein beta/gamma-subunit complex binding	molecular function	IBA; IEA	6
GO:0031748	D1 dopamine receptor binding	molecular function	IBA	5
GO:0003924	GTPase activity	molecular function	IBA; TAS[9159128]	14
GO:0040032	post-embryonic body morphogenesis	biological process	IEA	1
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	IDA[12719376]; IMP[12719376]	11
GO:0060348	bone development	biological process	IDA[12719376]; IMP[12719376]	3
GO:0030425	dendrite	cellular component	IEA	65
GO:0071107	response to parathyroid hormone	biological process	IMP[22378814]	1
GO:0001894	tissue homeostasis	biological process	IEA	2
GO:0031852	mu-type opioid receptor binding	molecular function	IBA	1
GO:0046907	intracellular transport	biological process	NAS[7997272]	2
GO:0004016	adenylate cyclase activity	molecular function	TAS	4
GO:0045672	positive regulation of osteoclast differentiation	biological process	IEA	5
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176
GO:0050796	regulation of insulin secretion	biological process	TAS	24
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0001726	ruffle	cellular component	IEA	10
GO:0005525	GTP binding	molecular function	IEA	20
GO:0071380	cellular response to prostaglandin E stimulus	biological process	ISS	1
GO:0009966	regulation of signal transduction	biological process	IMP[12719376]	4
GO:0045669	positive regulation of osteoblast differentiation	biological process	IEA	7
GO:0009306	protein secretion	biological process	NAS[10729789]	3
GO:0007190	activation of adenylate cyclase activity	biological process	TAS[9159128]	12
GO:0042493	response to drug	biological process	IEA	57
GO:0031224	intrinsic component of membrane	cellular component	IDA[7997272]	1
GO:0051216	cartilage development	biological process	IEA	6
GO:0005829	cytosol	cellular component	IDA[12719376]; ISS	223
GO:0032588	trans-Golgi network membrane	cellular component	IDA[7997272]	4
GO:0003091	renal water homeostasis	biological process	TAS	9
GO:0048589	developmental growth	biological process	IDA[12719376]; IMP[12719376]	7
GO:0006306	DNA methylation	biological process	IEA	2

Gene related KEGG pathways (count: 7)

KEGG pathways by PBA (count: 3)

ID	Name	No. of Genes in BDgene
hsa04540	Gap junction	15
hsa04730	Long-term depression	15
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 4)

ID	Name	No. of Genes in BDgene
hsa04742	Taste transduction	7
hsa04916	Melanogenesis	16
hsa04912	GnRH signaling pathway	17
hsa05110	Vibrio cholerae infection	9

Gene related BioCarta pathways (count: 13)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 13)

ID	Name	No. of Genes in BDgene
raccPathway	Ion Channels and Their Functional Role in Vascular Endothelium	2
gpcrPathway	Signaling Pathway from G-Protein Families	7
cremPathway	Regulation of Spermatogenesis by CREM	2
agpcrPathway	Attenuation of GPCR Signaling	3
plcePathway	Phospholipase C-epsilon pathway	4
gsPathway	Activation of cAMP-dependent protein kinase, PKA	2
mPRPathway	How Progesterone Initiates Oocyte Membrane	3
erkPathway	Erk1/Erk2 Mapk Signaling pathway	3
crebPathway	Transcription factor CREB and its extracellular signals	8
bArrestinPathway	b-arrestins in GPCR Desensitization	1
CSKPathway	Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor	4
gcrPathway	Corticosteroids and cardioprotection	9
CCR3Pathway	CCR3 signaling in Eosinophils	1

Gene related interactors from protein-protein interactions data in HPRD (count: 23)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GNAS	NUCB1	NO	yeast 2-hybrid	9647645
GNAS	VIPR1	NO	in vitro	11812005
GNAS	PTGIR	NO	in vitro	12488443
GNAS	RGS2	NO	in vitro	9794454
GNAS	GNGT1	NO	in vitro	15368366
GNAS	ADRB3	NO	in vivo	8011597
GNAS	TTC1	NO	in vitro	12748287
GNAS	PTGDR	NO	in vivo	12672054
GNAS	RIC8A	NO	in vitro;in vivo;yeast 2-hybrid	12652642
GNAS	TSHR	YES	in vitro	9525885
GNAS	LHB	NO	in vitro	8663226
GNAS	SNX13	YES	in vitro	11729322
GNAS	GCGR	NO	in vivo	1908089
GNAS	ADCY2	YES	in vitro	9268375
GNAS	LHCGR	NO	in vivo	10493819
GNAS	HTR6	YES	in vitro	11916537
GNAS	ADCY6	NO	in vitro	9228084
GNAS	RIC8B	YES	in vitro;yeast 2-hybrid	12652642
GNAS	CRHR1	YES	in vivo	10598591
GNAS	ADORA1	NO	in vivo	10521440
GNAS	ADCY5	NO	in vitro	9268375
GNAS	AVPR2	NO	in vivo	8621513
GNAS	CAV3	YES	in vitro	7797570

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs35113254	chr20:58860477 - 58860477(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs6064714	chr20:58839085 - 58839085(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs6026565	chr20:58864253 - 58864253(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs6026560		chr20:58851473 - 58851473(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 20	chr20:0-64444167	4 (0/3/1)
20p11-q13	chr20:17900000-64444167	1 (1/0/0)
20q13	chr20:43100000-64444167	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
16406317	31	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
12116190	There was no evidence for an association between the investigated polymorphism in the G(alpha)(s) gene and major depression, as well as to treatment response.	Neg	GNAS

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Region: chr20:58839718..58911192 View in gBrowse