Gene Page: RGS12

Summary ?
GeneID6002
SymbolRGS12
Synonyms-
Descriptionregulator of G-protein signaling 12
ReferenceMIM:602512|HGNC:HGNC:9994|Ensembl:ENSG00000159788|HPRD:03943|Vega:OTTHUMG00000090277
Gene typeprotein-coding
Map location4p16.3
Pascal p-value0.603
Sherlock p-value0.808
Fetal beta-0.988
DMG1 (# studies)
eGeneCerebellar Hemisphere
Meta
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
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
DNM:Guipponi_2014Whole Exome Sequencing analysis49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
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,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0036 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
RGS12chr43429844CTNM_002926
NM_198227
NM_198229		p.1120P>L
p.472P>L
p.1120P>L		missense
missense
missense		SchizophreniaDNM:Xu_2012
RGS12GTNM_198227p.R702Lmissense0.081SchizophreniaDNM:Guipponi_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg2678560443409168RGS122.162E-40.6630.036DMG:Wockner_2014


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:0005057receptor signaling protein activityIEA-
GO:0005096GTPase activator activityTAS9651375 
GO:0005515protein bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0009968negative regulation of signal transductionIEA-
GO:0007165signal transductionIEA-
GO:0008277regulation of G-protein coupled receptor protein signaling pathwayTAS9651375 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000794condensed nuclear chromosomeTAS10869340 
GO:0005634nucleusIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
CACNA1BBIII | CACNL1A5 | CACNN | Cav2.2calcium channel, voltage-dependent, N type, alpha 1B subunit-HPRD11130074 
GNAI1Giguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1-HPRD,BioGRID11387333 
GNAI2GIP | GNAI2B | H_LUCA15.1 | H_LUCA16.1guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2-HPRD,BioGRID11387333 
GNAI387U6 | FLJ26559guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3-HPRD,BioGRID11387333 
GRM2GLUR2 | GPRC1B | MGLUR2 | mGlu2glutamate receptor, metabotropic 2-HPRD9651375 
GRM5GPRC1E | MGLUR5 | MGLUR5A | MGLUR5B | mGlu5glutamate receptor, metabotropic 5-HPRD9651375 
IL8RBCD182 | CDw128b | CMKAR2 | CXCR2 | IL8R2 | IL8RAinterleukin 8 receptor, beta-HPRD9651375 
NPY2R-neuropeptide Y receptor Y2-HPRD9651375 
PLCB1FLJ45792 | PI-PLC | PLC-154 | PLC-I | PLC154phospholipase C, beta 1 (phosphoinositide-specific)-HPRD9651375 
PLCB3FLJ37084phospholipase C, beta 3 (phosphatidylinositol-specific)-HPRD9651375 
RGS12DKFZp761K1617 | DKFZp761K1817regulator of G-protein signaling 12-HPRD9651375 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME SIGNALING BY GPCR 920449All 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
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229142All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 UP 209139All SZGR 2.0 genes in this pathway
KANG IMMORTALIZED BY TERT DN 10267All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412249All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS 212121All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS REQUIRE MYC 210123All SZGR 2.0 genes in this pathway
KAMIKUBO MYELOID MN1 NETWORK 1914All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL 162122All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
LE NEURONAL DIFFERENTIATION DN 1916All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway