Gene Page: GNAS

Summary ?
GeneID2778
SymbolGNAS
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|POH|SCG6|SgVI
DescriptionGNAS complex locus
ReferenceMIM:139320|HGNC:HGNC:4392|Ensembl:ENSG00000087460|HPRD:00761|Vega:OTTHUMG00000033069
Gene typeprotein-coding
Map location20q13.3
Pascal p-value0.027
Sherlock p-value0.626
DEG p-valueDEG:Zhao_2015:p=6.55e-04:q=0.0955
Fetal beta-1.603
DMG1 (# studies)
SupportDOPAMINE
G-PROTEIN RELAY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DEG:Zhao_2015RNA Sequencing analysisTranscriptome sequencing and genome-wide association analyses reveal lysosomal function and actin cytoskeleton remodeling in schizophrenia and bipolar disorder.
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 3
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
AssociationA combined odds ratio method (Sun et al. 2008), association studies1Link to SZGene
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0086 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
GNASchr2057466823CTNM_000516
NM_001077488
NM_001077489
NM_001077490
NM_016592
NM_080425
NM_080426
NR_003259		.
.
.
.
.
.
.
.		silent
silent
silent
intronic
intronic
intronic
silent
intronic		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg231432332057465864GNAS2.87E-9-0.0132.02E-6DMG:Jaffe_2016
cg123724772057465915GNAS1.64E-8-0.0086.03E-6DMG:Jaffe_2016
cg213303232057414596GNAS9.29E-8-0.0152.11E-5DMG:Jaffe_2016


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0004871signal transducer activityIEA-
GO:0003674molecular_functionND-
GO:0003924GTPase activityNAS1716359 
GO:0003924GTPase activityTAS9159128 
GO:0005525GTP bindingIEA-
GO:0005525GTP bindingNAS-
GO:0019001guanyl nucleotide bindingIEA-
GO:0042802identical protein bindingIPI17353931 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007191dopamine receptor, adenylate cyclase activating pathwayIEAdopamine (GO term level: 12)-
GO:0001958endochondral ossificationIEA-
GO:0007190activation of adenylate cyclase activityTAS9159128 
GO:0007189G-protein signaling, adenylate cyclase activating pathwayNAS1716359 
GO:0007186G-protein coupled receptor protein signaling pathwayIEA-
GO:0006112energy reserve metabolic processIEA-
GO:0007165signal transductionIEA-
GO:0007165signal transductionNAS-
GO:0009306protein secretionNAS10729789 
GO:0009755hormone-mediated signalingEXP12626323 
GO:0009791post-embryonic developmentIEA-
GO:0007608sensory perception of smellTAS3018580 
GO:0007565female pregnancyNAS10729789 
GO:0006605protein targetingIEA-
GO:0042493response to drugIEA-
GO:0051216cartilage developmentIEA-
GO:0040032post-embryonic body morphogenesisIEA-
GO:0048701embryonic cranial skeleton morphogenesisIEA-
GO:0035116embryonic hindlimb morphogenesisIEA-
GO:0046907intracellular transportNAS7997272 
GO:0045669positive regulation of osteoblast differentiationIEA-
GO:0045672positive regulation of osteoclast differentiationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0042995cell projectionIEAaxon (GO term level: 4)-
GO:0005834heterotrimeric G-protein complexNAS1716359 
GO:0005834heterotrimeric G-protein complexTAS9159128 
GO:0005576extracellular regionNAS-
GO:0005624membrane fractionIEA-
GO:0005737cytoplasmIDA11256614 
GO:0005886plasma membraneIEA-
GO:0005886plasma membraneNAS-
GO:0005886plasma membraneTAS9727013 
GO:0031224intrinsic to membraneIDA7997272 
GO:0032588trans-Golgi network membraneIDA7997272 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ADCY2AC2 | FLJ16822 | FLJ45092 | HBAC2 | KIAA1060 | MGC133314adenylate cyclase 2 (brain)-HPRD9268375 
ADCY5AC5adenylate cyclase 5-HPRD9268375 
ADCY6AC6 | DKFZp779F075 | KIAA0422adenylate cyclase 6-HPRD,BioGRID9228084 
ADORA1RDC7adenosine A1 receptor-HPRD10521440 
ADRB3BETA3ARadrenergic, beta-3-, receptor-HPRD8011597 
AVPR2ADHR | DI1 | DIR | DIR3 | MGC126533 | MGC138386 | NDI | V2Rarginine vasopressin receptor 2-HPRD8621513 
CAV3LGMD1C | LQT9 | MGC126100 | MGC126101 | MGC126129 | VIP-21 | VIP21caveolin 3-HPRD,BioGRID7797570 
CRHR1CRF-R | CRF1 | CRFR1 | CRH-R1h | CRHR | CRHR1fcorticotropin releasing hormone receptor 1-HPRD,BioGRID10598591 
FSCN1FLJ38511 | SNL | p55fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)Affinity Capture-MSBioGRID17353931 
GCGRGGR | MGC138246glucagon receptor-HPRD1908089 
GNB1-guanine nucleotide binding protein (G protein), beta polypeptide 1G-beta-1 interacts with G-alpha-s.BIND15782186 
GNB1-guanine nucleotide binding protein (G protein), beta polypeptide 1-HPRD11294873 
HTR65-HT6 | 5-HT6R5-hydroxytryptamine (serotonin) receptor 6-HPRD11916537 
LHCGRFLJ41504 | LCGR | LGR2 | LH/CG-R | LH/CGR | LHR | LHRHR | LSH-Rluteinizing hormone/choriogonadotropin receptor-HPRD10493819 
PAICSADE2 | ADE2H1 | AIRC | DKFZp781N1372 | MGC1343 | MGC5024 | PAISphosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetaseAffinity Capture-MSBioGRID17353931 
PLEKHB1KPL1 | PHR1 | PHRET1pleckstrin homology domain containing, family B (evectins) member 1-HPRD10585447 
PTGDRAS1 | ASRT1 | DP | DP1 | MGC49004prostaglandin D2 receptor (DP)-HPRD,BioGRID12672054 
PTGIRIP | MGC102830 | PRIPRprostaglandin I2 (prostacyclin) receptor (IP)-HPRD,BioGRID12488443 
RGS2G0S8regulator of G-protein signaling 2, 24kDa-HPRD,BioGRID9794454 
RIC8AMGC104517 | MGC131931 | MGC148073 | MGC148074 | RIC8 | synembrynresistance to inhibitors of cholinesterase 8 homolog A (C. elegans)-HPRD,BioGRID12652642 
RIC8BFLJ10620 | MGC39476 | RIC8 | hSynresistance to inhibitors of cholinesterase 8 homolog B (C. elegans)-HPRD12652642 
RUVBL1ECP54 | INO80H | NMP238 | PONTIN | Pontin52 | RVB1 | TIH1 | TIP49 | TIP49ARuvB-like 1 (E. coli)Affinity Capture-MSBioGRID17353931 
SHMT2GLYA | SHMTserine hydroxymethyltransferase 2 (mitochondrial)Affinity Capture-MSBioGRID17353931 
SNX13KIAA0713 | RGS-PX1sorting nexin 13-HPRD,BioGRID11729322 
TSHRCHNG1 | LGR3 | MGC75129 | hTSHR-Ithyroid stimulating hormone receptor-HPRD9525885 
TTC1FLJ46404 | TPR1tetratricopeptide repeat domain 1G-alpha-s-Short interacts with TPR1.BIND12748287 
TTC1FLJ46404 | TPR1tetratricopeptide repeat domain 1-HPRD,BioGRID12748287 
TTC1FLJ46404 | TPR1tetratricopeptide repeat domain 1G-alpha-s-Long interacts with TPR1.BIND12748287 
VIPR1FLJ41949 | HVR1 | II | PACAP-R-2 | RDC1 | VAPC1 | VIPR | VIRG | VPAC1 | VPCAP1Rvasoactive intestinal peptide receptor 1-HPRD,BioGRID11812005 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CALCIUM SIGNALING PATHWAY 178134All SZGR 2.0 genes in this pathway
KEGG VASCULAR SMOOTH MUSCLE CONTRACTION 11581All SZGR 2.0 genes in this pathway
KEGG GAP JUNCTION 9068All SZGR 2.0 genes in this pathway
KEGG LONG TERM DEPRESSION 7053All SZGR 2.0 genes in this pathway
KEGG TASTE TRANSDUCTION 5228All SZGR 2.0 genes in this pathway
KEGG GNRH SIGNALING PATHWAY 10177All SZGR 2.0 genes in this pathway
KEGG MELANOGENESIS 10280All SZGR 2.0 genes in this pathway
KEGG VASOPRESSIN REGULATED WATER REABSORPTION 4430All SZGR 2.0 genes in this pathway
KEGG VIBRIO CHOLERAE INFECTION 5632All SZGR 2.0 genes in this pathway
KEGG DILATED CARDIOMYOPATHY 9268All SZGR 2.0 genes in this pathway
BIOCARTA CSK PATHWAY 2420All SZGR 2.0 genes in this pathway
BIOCARTA AGPCR PATHWAY 1312All SZGR 2.0 genes in this pathway
BIOCARTA CCR3 PATHWAY 2321All SZGR 2.0 genes in this pathway
BIOCARTA GCR PATHWAY 2217All SZGR 2.0 genes in this pathway
BIOCARTA CFTR PATHWAY 1211All SZGR 2.0 genes in this pathway
BIOCARTA ERK PATHWAY 2822All SZGR 2.0 genes in this pathway
BIOCARTA MPR PATHWAY 3428All SZGR 2.0 genes in this pathway
BIOCARTA PLCE PATHWAY 1210All SZGR 2.0 genes in this pathway
BIOCARTA BARR MAPK PATHWAY 1211All SZGR 2.0 genes in this pathway
BIOCARTA BARRESTIN SRC PATHWAY 1514All SZGR 2.0 genes in this pathway
BIOCARTA GPCR PATHWAY 3731All SZGR 2.0 genes in this pathway
BIOCARTA BARRESTIN PATHWAY 108All SZGR 2.0 genes in this pathway
BIOCARTA CREB PATHWAY 2725All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR 920449All SZGR 2.0 genes in this pathway
REACTOME INTEGRATION OF ENERGY METABOLISM 12084All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME GLUCAGON SIGNALING IN METABOLIC REGULATION 3423All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF INSULIN SECRETION BY GLUCAGON LIKE PEPTIDE1 4328All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF INSULIN SECRETION 9365All SZGR 2.0 genes in this pathway
REACTOME CLASS B 2 SECRETIN FAMILY RECEPTORS 8858All SZGR 2.0 genes in this pathway
REACTOME GLUCAGON TYPE LIGAND RECEPTORS 3322All SZGR 2.0 genes in this pathway
REACTOME GPCR DOWNSTREAM SIGNALING 805368All SZGR 2.0 genes in this pathway
REACTOME G ALPHA I SIGNALLING EVENTS 195114All SZGR 2.0 genes in this pathway
REACTOME G ALPHA S SIGNALLING EVENTS 12182All SZGR 2.0 genes in this pathway
REACTOME G ALPHA Z SIGNALLING EVENTS 4429All SZGR 2.0 genes in this pathway
REACTOME GPCR LIGAND BINDING 408246All SZGR 2.0 genes in this pathway
REACTOME PLATELET HOMEOSTASIS 7849All SZGR 2.0 genes in this pathway
REACTOME AQUAPORIN MEDIATED TRANSPORT 5134All SZGR 2.0 genes in this pathway
REACTOME PROSTACYCLIN SIGNALLING THROUGH PROSTACYCLIN RECEPTOR 1911All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF WATER BALANCE BY RENAL AQUAPORINS 4430All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS 466331All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN 526357All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP 485293All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER DN 406230All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL DN 275168All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS DN 240171All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION DN 329219All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN 459276All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230115All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
OUELLET OVARIAN CANCER INVASIVE VS LMP UP 11785All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 5 6WK DN 13797All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK UP 197135All SZGR 2.0 genes in this pathway
TOMIDA METASTASIS UP 2613All SZGR 2.0 genes in this pathway
BEGUM TARGETS OF PAX3 FOXO1 FUSION UP 6045All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
WOOD EBV EBNA1 TARGETS UP 11071All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
JOHANSSON BRAIN CANCER EARLY VS LATE DN 4535All SZGR 2.0 genes in this pathway
SCHLESINGER METHYLATED DE NOVO IN CANCER 8864All SZGR 2.0 genes in this pathway
ALCALA APOPTOSIS 8860All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY UP 236139All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP 344180All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
SHIN B CELL LYMPHOMA CLUSTER 8 3628All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 20Q12 Q13 AMPLICON 14976All SZGR 2.0 genes in this pathway
DING LUNG CANCER MUTATED SIGNIFICANTLY 2622All SZGR 2.0 genes in this pathway
GNATENKO PLATELET SIGNATURE 4828All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA PROGNOSIS UP 4730All SZGR 2.0 genes in this pathway
LU IL4 SIGNALING 9456All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
THEILGAARD NEUTROPHIL AT SKIN WOUND DN 225163All SZGR 2.0 genes in this pathway
MA MYELOID DIFFERENTIATION UP 3929All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR 532309All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA UP 9864All SZGR 2.0 genes in this pathway
WEIGEL OXIDATIVE STRESS RESPONSE 3528All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD DN 15093All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP 175116All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN UP 7149All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY DN 14588All SZGR 2.0 genes in this pathway
ZHANG PROLIFERATING VS QUIESCENT 5141All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261183All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT DN 165106All SZGR 2.0 genes in this pathway
BILD E2F3 ONCOGENIC SIGNATURE 246153All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602364All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN DN 353226All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
LABBE WNT3A TARGETS UP 11271All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP 374247All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447277All SZGR 2.0 genes in this pathway
CHAUHAN RESPONSE TO METHOXYESTRADIOL DN 10265All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
VANASSE BCL2 TARGETS UP 4025All SZGR 2.0 genes in this pathway
SHEDDEN LUNG CANCER POOR SURVIVAL A6 456285All SZGR 2.0 genes in this pathway
HSIAO HOUSEKEEPING GENES 389245All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K27ME3 269159All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
YAMASHITA LIVER CANCER WITH EPCAM UP 5325All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349234All SZGR 2.0 genes in this pathway
DANG REGULATED BY MYC DN 253192All SZGR 2.0 genes in this pathway
NIELSEN MALIGNAT FIBROUS HISTIOCYTOMA DN 1811All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS UP 9159All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN UP 9058All SZGR 2.0 genes in this pathway
RAGHAVACHARI PLATELET SPECIFIC GENES 7046All SZGR 2.0 genes in this pathway
STAMBOLSKY TARGETS OF MUTATED TP53 UP 4935All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL 162122All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS UP 13993All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315215All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D 658397All SZGR 2.0 genes in this pathway
BRIDEAU IMPRINTED GENES 6347All SZGR 2.0 genes in this pathway