Summary ?
GeneID9568
SymbolGABBR2
SynonymsGABABR2|GPR51|GPRC3B|HG20|HRIHFB2099
Descriptiongamma-aminobutyric acid type B receptor subunit 2
ReferenceMIM:607340|HGNC:HGNC:4507|Ensembl:ENSG00000136928|HPRD:09552|Vega:OTTHUMG00000020345
Gene typeprotein-coding
Map location9q22.1-q22.3
Pascal p-value9.933E-6
Sherlock p-value0.976
Fetal beta-2.048
DMG1 (# studies)
eGeneMyers' cis & trans
SupportLIGAND GATED ION SIGNALING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
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: 3 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg079039189101471986GABBR22.1E-4-0.5350.035DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs9571716chr1367711344GABBR295680.19trans

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
IGSF30.940.96
XPR10.940.96
BCL11A0.940.88
AFF30.940.92
MLLT40.940.95
NFYA0.930.91
EML10.930.92
GPR120.920.92
ITSN10.920.89
TBR10.920.80
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SERPINB6-0.67-0.77
C5orf53-0.64-0.80
HLA-F-0.63-0.80
HEPN1-0.62-0.78
TSC22D4-0.62-0.83
TNFSF12-0.62-0.68
AIFM3-0.62-0.78
HSD17B14-0.62-0.81
S100B-0.61-0.87
FXYD1-0.61-0.91

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004965GABA-B receptor activityTASGABA, glutamate (GO term level: 7)10328880 
GO:0004872receptor activityIEA-
GO:0004930G-protein coupled receptor activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007268synaptic transmissionTASneuron, Synap, Neurotransmitter (GO term level: 6)9872316 
GO:0007186G-protein coupled receptor protein signaling pathwayTAS9872316 
GO:0007194negative regulation of adenylate cyclase activityTAS10328880 
GO:0007165signal transductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0045211postsynaptic membraneIEASynap, Neurotransmitter (GO term level: 5)-
GO:0045202synapseIEAneuron, Synap, Neurotransmitter, Glial (GO term level: 2)-
GO:0005886plasma membraneIEA-
GO:0005887integral to plasma membraneTAS10328880 
GO:0030054cell junctionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272195All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR 920449All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME CLASS C 3 METABOTROPIC GLUTAMATE PHEROMONE RECEPTORS 1511All 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 GPCR LIGAND BINDING 408246All SZGR 2.0 genes in this pathway
REACTOME INHIBITION OF VOLTAGE GATED CA2 CHANNELS VIA GBETA GAMMA SUBUNITS 2517All SZGR 2.0 genes in this pathway
REACTOME GABA B RECEPTOR ACTIVATION 3826All SZGR 2.0 genes in this pathway
REACTOME GABA RECEPTOR ACTIVATION 5240All SZGR 2.0 genes in this pathway
REACTOME POTASSIUM CHANNELS 9868All SZGR 2.0 genes in this pathway
REACTOME INWARDLY RECTIFYING K CHANNELS 3120All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE DN 244147All SZGR 2.0 genes in this pathway
DOANE BREAST CANCER ESR1 DN 4828All SZGR 2.0 genes in this pathway
NEWMAN ERCC6 TARGETS DN 3924All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 1 UP 276165All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 UP 341197All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG DN 5940All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS UP 6740All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS UP 4122All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
TANG SENESCENCE TP53 TARGETS UP 3320All SZGR 2.0 genes in this pathway
LUI THYROID CANCER PAX8 PPARG UP 4429All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330215All SZGR 2.0 genes in this pathway
LUI THYROID CANCER CLUSTER 2 4231All SZGR 2.0 genes in this pathway
HERNANDEZ ABERRANT MITOSIS BY DOCETACEL 2NM UP 8157All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280183All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR DN 10164All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482296All SZGR 2.0 genes in this pathway
LEIN NEURON MARKERS 6945All SZGR 2.0 genes in this pathway
AMBROSINI FLAVOPIRIDOL TREATMENT TP53 10963All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
CROONQUIST STROMAL STIMULATION UP 6042All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349234All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All 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
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505328All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 DN 8251All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7 403240All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-12819131919m8hsa-miR-128aUCACAGUGAACCGGUCUCUUUU
hsa-miR-128bUCACAGUGAACCGGUCUCUUUC
miR-129-5p2882951A,m8hsa-miR-129brainCUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5pCUUUUUGCGGUCUGGGCUUGCU
miR-139205020561Ahsa-miR-139brainUCUACAGUGCACGUGUCU
miR-17-5p/20/93.mr/106/519.d8908971A,m8hsa-miR-17-5pCAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrainUAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106aAAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZUAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZCAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519dCAAAGUGCCUCCCUUUAGAGUGU
miR-192/215186018661Ahsa-miR-192CUGACCUAUGAAUUGACAGCC
hsa-miR-215AUGACCUAUGAAUUGACAGAC
miR-200bc/42919261932m8hsa-miR-200bUAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200cUAAUACUGCCGGGUAAUGAUGG
hsa-miR-429UAAUACUGUCUGGUAAAACCGU
miR-204/211199320001A,m8hsa-miR-204brainUUCCCUUUGUCAUCCUAUGCCU
hsa-miR-211UUCCCUUUGUCAUCCUUCGCCU
miR-2216371643m8hsa-miR-22brainAAGCUGCCAGUUGAAGAACUGU
miR-326146014671A,m8hsa-miR-326CCUCUGGGCCCUUCCUCCAG
miR-370207320791Ahsa-miR-370brainGCCUGCUGGGGUGGAACCUGG
miR-378168316901A,m8hsa-miR-378CUCCUGACUCCAGGUCCUGUGU
miR-4502882941Ahsa-miR-450UUUUUGCGAUGUGUUCCUAAUA
miR-452229523011Ahsa-miR-452UGUUUGCAGAGGAAACUGAGAC
miR-9967973m8hsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA