Gene Page:RGS12
Summary?
| GeneID | 6002 |
| Symbol | RGS12 |
| Synonyms | - |
| Description | regulator of G-protein signaling 12 |
| Reference | MIM:602512|HGNC:HGNC:9994|Ensembl:ENSG00000159788|HPRD:03943|Vega:OTTHUMG00000090277 |
| Gene type | protein-coding |
| Map location | 4p16.3 |
| Pascal p-value | 0.603 |
| Sherlock p-value | 0.808 |
| Fetal beta | -0.988 |
| DMG | 1 (# studies) |
| eGene | Cerebellar Hemisphere 元 |
| Support | CompositeSet |
基因数据urces
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| 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 |
| DNM:Guipponi_2014 | Whole Exome Sequencing analysis | 49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents | |
| DNM:Xu_2012 | Whole Exome Sequencing analysis | 新创的突变4基因被确定by exome sequencing of 795 samples in this study | |
| 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 | Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias | Click to show details |
| Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.0036 |
Section I. Genetics and epigenetics annotation
DNM table
DNM table| Gene | Chromosome | Position | Ref | Alt | Transcript | AA change | Mutation type | Sift | CG46 | Trait | Study |
|---|---|---|---|---|---|---|---|---|---|---|---|
| RGS12 | chr4 | 3429844 | C | T | NM_002926 NM_198227 NM_198229 |
p.1120P>L p.472P>L p.1120P>L |
missense missense missense |
Schizophrenia | DNM:Xu_2012 | ||
| RGS12 | G | T | NM_198227 | p.R702L | missense | 0.08 | 1 | Schizophrenia | DNM:Guipponi_2014 |
Differentially methylated gene
| Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
|---|---|---|---|---|---|---|---|
| cg26785604 | 4 | 3409168 | RGS12 | 2.162E-4 | 0.663 | 0.036 | DMG:Wockner_2014 |
Section II. Transcriptome annotation
General gene expression (GTEx)
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:0005057 | receptor signaling protein activity | IEA | - | |
| GO:0005096 | GTPase activator activity | TAS | 9651375 | |
| GO:0005515 | protein binding | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0009968 | negative regulation of signal transduction | IEA | - | |
| GO:0007165 | signal transduction | IEA | - | |
| GO:0008277 | regulation of G-protein coupled receptor protein signaling pathway | TAS | 9651375 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0000794 | condensed nuclear chromosome | TAS | 10869340 | |
| GO:0005634 | nucleus | IEA | - |
Section IV. Protein-protein interaction annotation
| Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
|---|---|---|---|---|---|
| CACNA1B | BIII | CACNL1A5 | CACNN | Cav2.2 | calcium channel, voltage-dependent, N type, alpha 1B subunit | - | HPRD | 11130074 |
| GNAI1 | Gi | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 | - | HPRD,BioGRID | 11387333 |
| GNAI2 | GIP | GNAI2B | H_LUCA15.1 | H_LUCA16.1 | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 | - | HPRD,BioGRID | 11387333 |
| GNAI3 | 87U6 | FLJ26559 | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 | - | HPRD,BioGRID | 11387333 |
| GRM2 | GLUR2 | GPRC1B | MGLUR2 | mGlu2 | glutamate receptor, metabotropic 2 | - | HPRD | 9651375 |
| GRM5 | GPRC1E | MGLUR5 | MGLUR5A | MGLUR5B | mGlu5 | glutamate receptor, metabotropic 5 | - | HPRD | 9651375 |
| IL8RB | CD182 | CDw128b | CMKAR2 | CXCR2 | IL8R2 | IL8RA | interleukin 8 receptor, beta | - | HPRD | 9651375 |
| NPY2R | - | neuropeptide Y receptor Y2 | - | HPRD | 9651375 |
| PLCB1 | FLJ45792 | PI-PLC | PLC-154 | PLC-I | PLC154 | phospholipase C, beta 1 (phosphoinositide-specific) | - | HPRD | 9651375 |
| PLCB3 | FLJ37084 | phospholipase C, beta 3 (phosphatidylinositol-specific) | - | HPRD | 9651375 |
| RGS12 | DKFZp761K1617 | DKFZp761K1817 | regulator of G-protein signaling 12 | - | HPRD | 9651375 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| REACTOME SIGNALING BY GPCR | 920 | 449 | 所有SZGR 2.0基因通路 |
| REACTOME GPCR DOWNSTREAM SIGNALING | 805 | 368 | 所有SZGR 2.0基因通路 |
| REACTOME G ALPHA I SIGNALLING EVENTS | 195 | 114 | 所有SZGR 2.0基因通路 |
| CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN | 391 | 222 | 所有SZGR 2.0基因通路 |
| ENK UV RESPONSE KERATINOCYTE UP | 530 | 342 | 所有SZGR 2.0基因通路 |
| LINDGREN BLADDER CANCER CLUSTER 3 DN | 229 | 142 | 所有SZGR 2.0基因通路 |
| LASTOWSKA NEUROBLASTOMA COPY NUMBER DN | 800 | 473 | 所有SZGR 2.0基因通路 |
| GROSS HYPOXIA VIA ELK3 UP | 209 | 139 | 所有SZGR 2.0基因通路 |
| KANG IMMORTALIZED BY TERT DN | 102 | 67 | 所有SZGR 2.0基因通路 |
| MOREAUX MULTIPLE MYELOMA BY TACI UP | 412 | 249 | 所有SZGR 2.0基因通路 |
| BLALOCK ALZHEIMERS DISEASE UP | 1691 | 1088 | 所有SZGR 2.0基因通路 |
| SANSOM APC TARGETS | 212 | 121 | 所有SZGR 2.0基因通路 |
| SANSOM APC TARGETS REQUIRE MYC | 210 | 123 | 所有SZGR 2.0基因通路 |
| KAMIKUBO MYELOID MN1 NETWORK | 19 | 14 | 所有SZGR 2.0基因通路 |
| VERHAAK GLIOBLASTOMA CLASSICAL | 162 | 122 | 所有SZGR 2.0基因通路 |
| FEVR CTNNB1 TARGETS DN | 553 | 343 | 所有SZGR 2.0基因通路 |
| KOINUMA TARGETS OF SMAD2 OR SMAD3 | 824 | 528 | 所有SZGR 2.0基因通路 |
| LE NEURONAL DIFFERENTIATION DN | 19 | 16 | 所有SZGR 2.0基因通路 |
| ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN | 308 | 187 | 所有SZGR 2.0基因通路 |
| ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY | 1839 | 928 | 所有SZGR 2.0基因通路 |