Gene Page:GABRB3

Summary?
GeneID 2562
Symbol GABRB3
同义词 ECA5
Description gamma-aminobutyric acid type A receptor beta3 subunit
Reference MIM:137192|HGNC:HGNC:4083|Ensembl:ENSG00000166206|HPRD:08844|Vega:OTTHUMG00000129231
Gene type protein-coding
Map location 15q12
Pascal p-value 5.533E-4
Sherlock p-value 0.617
Fetal beta -0.705
DMG 1 (# studies)
eGene Myers' cis & trans
Support LIGAND GATED ION SIGNALING
Potential synaptic genes

Gene in Data Sources
Gene set name Method of gene set Description Info
CNV:YES Copy number variation studies Manual curation
CV:GWASdb Genome-wide Association Studies GWASdb records for schizophrenia
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search 与精神分裂症Co-occurance关键词:schizophrenia,schizophrenic,schizophrenias Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 4

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg13904560 15 26870826 GABRB3 1.18E-6 0.583 0.007 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs1155107 chr3 26843376 GABRB3 2562 0.1 trans
rs17029291 chr3 32402138 GABRB3 2562 0.02 trans
rs750544 chr5 51749054 GABRB3 2562 0.14 trans
rs240410 chr6 75940738 GABRB3 2562 0.18 trans
rs418485 chr6 75966268 GABRB3 2562 0.18 trans
rs240388 chr6 75972698 GABRB3 2562 0.18 trans
rs1324669 chr13 107872446 GABRB3 2562 0.01 trans
rs17145698 chrX 40218345 GABRB3 2562 0.03 trans

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 function GO term Evidence Neuro keywords PubMed ID
GO:0030594 neurotransmitter receptor activity IEA Neurotransmitter (GO term level: 5) -
GO:0004890 GABA-A receptor activity IEA GABA (GO term level: 7) -
GO:0004890 GABA-A receptor activity TAS GABA (GO term level: 7) 1664410
GO:0005254 chloride channel activity IEA -
GO:0005216 ion channel activity IEA -
GO:0005230 extracellular ligand-gated ion channel activity IEA -
GO:0031404 chloride ion binding IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0007165 signal transduction TAS 1664410
GO:0006811 ion transport IEA -
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0045211 postsynaptic membrane IEA Synap, Neurotransmitter (GO term level: 5) -
GO:0045202 synapse IEA 神经元, Synap, Neurotransmitter, Glial (GO term level: 2) -
GO:0016021 integral to membrane IEA -
GO:0005886 plasma membrane IEA -
GO:0005887 integral to plasma membrane TAS 1664410
GO:0030054 cell junction IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272 195 All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186 155 All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279 221 All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137 110 All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413 270 All SZGR 2.0 genes in this pathway
REACTOME GABA A RECEPTOR ACTIVATION 12 12 All SZGR 2.0 genes in this pathway
REACTOME GABA RECEPTOR ACTIVATION 52 40 All SZGR 2.0 genes in this pathway
REACTOME ION CHANNEL TRANSPORT 55 42 All SZGR 2.0 genes in this pathway
REACTOME LIGAND GATED ION CHANNEL TRANSPORT 21 21 All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY DN 367 220 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536 332 All SZGR 2.0 genes in this pathway
ODONNELL METASTASIS UP 82 58 All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION UP 88 58 All SZGR 2.0 genes in this pathway
BENPORATH ES 1 379 235 All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA DESMOPLASIC VS CLASSIC UP 62 38 All SZGR 2.0 genes in this pathway
LU AGING BRAIN DN 153 120 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249 170 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT DN 165 106 All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS UP 170 107 All SZGR 2.0 genes in this pathway
EHLERS ANEUPLOIDY DN 12 8 All SZGR 2.0 genes in this pathway
CONRAD STEM CELL 39 27 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR DN 36 19 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 DN 180 116 All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725 838 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-128 2301 2307 1A hsa-miR-128a UCACAGUGAACCGGUCUCUUUU
hsa-miR-128b UCACAGUGAACCGGUCUCUUUC
miR-194 2904 2910 m8 hsa-miR-194 UGUAACAGCAACUCCAUGUGGA
miR-203.1 2670 2676 1A hsa-miR-203 UGAAAUGUUUAGGACCACUAG
miR-204/211 329 335 m8 hsa-miR-204brain UUCCCUUUGUCAUCCUAUGCCU
hsa-miR-211 UUCCCUUUGUCAUCCUUCGCCU
miR-218 4121 4127 m8 hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-23 136 142 1A hsa-miR-23abrain AUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrain AUCACAUUGCCAGGGAUUACC
miR-26 1798 1804 m8 hsa-miR-26abrain UUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZ UUCAAGUAAUUCAGGAUAGGUU
miR-27 2301 2307 m8 hsa-miR-27abrain UUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrain UUCACAGUGGCUAAGUUCUGC
miR-369-3p 4144 4150 m8 hsa-miR-369-3p AAUAAUACAUGGUUGAUCUUU
miR-383 1362 1368 m8 hsa-miR-383brain AGAUCAGAAGGUGAUUGUGGCU
miR-421 1312 1318 1A hsa-miR-421 GGCCUCAUUAAAUGUUUGUUG
miR-431 1411 1417 1A hsa-miR-431 UGUCUUGCAGGCCGUCAUGCA
miR-448 2479 2485 m8 hsa-miR-448 UUGCAUAUGUAGGAUGUCCCAU
miR-455 3486 3492 m8 hsa-miR-455 UAUGUGCCUUUGGACUACAUCG
miR-485-5p 1371 1378 1A,m8 hsa-miR-485-5p AGAGGCUGGCCGUGAUGAAUUC
miR-486 4021 4028 1A,m8 hsa-miR-486 UCCUGUACUGAGCUGCCCCGAG
miR-488 1987 1993 1A hsa-miR-488 CCCAGAUAAUGGCACUCUCAA
miR-500 1418 1424 m8 hsa-miR-500 AUGCACCUGGGCAAGGAUUCUG
miR-539 144 150 1A hsa - mir - 539 GGAGAAAUUAUCCUUGGUGUGU
miR-542-3p 1566 1572 1A hsa-miR-542-3p UGUGACAGAUUGAUAACUGAAA