Summary ?
GeneID5934
SymbolRBL2
SynonymsP130|Rb2
Descriptionretinoblastoma-like 2
ReferenceMIM:180203|HGNC:HGNC:9894|Ensembl:ENSG00000103479|HPRD:01576|Vega:OTTHUMG00000133198
Gene typeprotein-coding
Map location16q12.2
Pascal p-value0.026
Sherlock p-value0.722
eGeneAnterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Hippocampus
Hypothalamus
Putamen basal ganglia
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs29087971653429173RBL2ENSG00000103479.103.743E-70-38716gtex_brain_ba24
rs72031321653429775RBL2ENSG00000103479.104.849E-70-38114gtex_brain_ba24
rs288155491653432219RBL2ENSG00000103479.101.237E-60-35670gtex_brain_ba24
rs13444911653439409RBL2ENSG00000103479.107.638E-70-28480gtex_brain_ba24
rs133320711653443636RBL2ENSG00000103479.103.136E-70-24253gtex_brain_ba24
rs287593931653445358RBL2ENSG00000103479.107.631E-70-22531gtex_brain_ba24
rs80632941653446757RBL2ENSG00000103479.108.929E-70-21132gtex_brain_ba24
rs18613531653452081RBL2ENSG00000103479.103.133E-70-15808gtex_brain_ba24
rs58168941653452220RBL2ENSG00000103479.103.085E-70-15669gtex_brain_ba24
rs80613981653454151RBL2ENSG00000103479.103.133E-70-13738gtex_brain_ba24
rs99320071653456661RBL2ENSG00000103479.102.17E-70-11228gtex_brain_ba24
rs19783371653459745RBL2ENSG00000103479.103.132E-70-8144gtex_brain_ba24
rs64996131653463418RBL2ENSG00000103479.107.623E-70-4471gtex_brain_ba24
rs64996171653467722RBL2ENSG00000103479.103.565E-70-167gtex_brain_ba24
rs80563491653468026RBL2ENSG00000103479.103.13E-70137gtex_brain_ba24
rs41463441653468962RBL2ENSG00000103479.102.168E-701073gtex_brain_ba24
rs10741821653471357RBL2ENSG00000103479.103.129E-703468gtex_brain_ba24
rs133301821653472385RBL2ENSG00000103479.102.167E-704496gtex_brain_ba24
rs99279821653474108RBL2ENSG00000103479.105.286E-706219gtex_brain_ba24
rs620485181653474693RBL2ENSG00000103479.102.167E-706804gtex_brain_ba24
rs99215871653475650RBL2ENSG00000103479.103.129E-707761gtex_brain_ba24
rs178005771653476804RBL2ENSG00000103479.105.286E-708915gtex_brain_ba24
rs99277201653478022RBL2ENSG00000103479.108.22E-7010133gtex_brain_ba24
rs13624291653479084RBL2ENSG00000103479.103.133E-7011195gtex_brain_ba24
rs3980708071653480250RBL2ENSG00000103479.102.8E-7012361gtex_brain_ba24
rs169522461653480709RBL2ENSG00000103479.102.167E-7012820gtex_brain_ba24
rs99387881653481422RBL2ENSG00000103479.102.167E-7013533gtex_brain_ba24
rs72047581653482365RBL2ENSG00000103479.102.167E-7014476gtex_brain_ba24
rs99216271653482692RBL2ENSG00000103479.102.167E-7014803gtex_brain_ba24
rs47838111653483376RBL2ENSG00000103479.103.129E-7015487gtex_brain_ba24
rs169522521653483980RBL2ENSG00000103479.102.167E-7016091gtex_brain_ba24
rs72026211653486037RBL2ENSG00000103479.102.167E-7018148gtex_brain_ba24
rs99412541653487218RBL2ENSG00000103479.102.167E-7019329gtex_brain_ba24
rs71947301653489190RBL2ENSG00000103479.102.167E-7021301gtex_brain_ba24
rs133324061653489705RBL2ENSG00000103479.102.167E-7021816gtex_brain_ba24
rs575895571653490098RBL2ENSG00000103479.101.158E-7022209gtex_brain_ba24
rs99298731653490676RBL2ENSG00000103479.102.167E-7022787gtex_brain_ba24
rs20244491653494617RBL2ENSG00000103479.101.66E-7026728gtex_brain_ba24
rs72044961653496598RBL2ENSG00000103479.102.167E-7028709gtex_brain_ba24
rs118595381653497045RBL2ENSG00000103479.103.129E-7029156gtex_brain_ba24
rs118642781653497417RBL2ENSG00000103479.102.167E-7029528gtex_brain_ba24
rs47843121653498402RBL2ENSG00000103479.102.167E-7030513gtex_brain_ba24
rs10729101653499599RBL2ENSG00000103479.102.167E-7031710gtex_brain_ba24
rs10729111653499725RBL2ENSG00000103479.103.129E-7031836gtex_brain_ba24
rs42817071653501946RBL2ENSG00000103479.102.167E-7034057gtex_brain_ba24
rs11312201653503934RBL2ENSG00000103479.103.129E-7036045gtex_brain_ba24
rs107481653504721RBL2ENSG00000103479.103.129E-7036832gtex_brain_ba24
rs80610731653508507RBL2ENSG00000103479.102.167E-7040618gtex_brain_ba24
rs80456741653509936RBL2ENSG00000103479.103.129E-7042047gtex_brain_ba24
rs561262291653510687RBL2ENSG00000103479.102.167E-7042798gtex_brain_ba24
rs620485261653511926RBL2ENSG00000103479.102.167E-7044037gtex_brain_ba24
rs80625351653512488RBL2ENSG00000103479.102.167E-7044599gtex_brain_ba24
rs80439181653513033RBL2ENSG00000103479.102.167E-7045144gtex_brain_ba24
rs80490331653513055RBL2ENSG00000103479.102.167E-7045166gtex_brain_ba24
rs178014981653513452RBL2ENSG00000103479.103.129E-7045563gtex_brain_ba24
rs38036571653515959RBL2ENSG00000103479.102.167E-7048070gtex_brain_ba24
rs93026471653516539RBL2ENSG00000103479.103.129E-7048650gtex_brain_ba24
rs80563701653516676RBL2ENSG00000103479.102.826E-7048787gtex_brain_ba24
rs71994011653516950RBL2ENSG00000103479.102.351E-7049061gtex_brain_ba24
rs563319111653517891RBL2ENSG00000103479.103.129E-7050002gtex_brain_ba24
rs2003988201653517894RBL2ENSG00000103479.101.276E-7050005gtex_brain_ba24
rs171931761653518228RBL2ENSG00000103479.103.129E-7050339gtex_brain_ba24
rs47838131653518370RBL2ENSG00000103479.102.167E-7050481gtex_brain_ba24
rs80463071653518686RBL2ENSG00000103479.102.167E-7050797gtex_brain_ba24
rs133375441653519035RBL2ENSG00000103479.102.167E-7051146gtex_brain_ba24
rs80552791653522749RBL2ENSG00000103479.102.201E-7054860gtex_brain_ba24
rs587281981653523947RBL2ENSG00000103479.102.043E-7056058gtex_brain_ba24
rs39291653524308RBL2ENSG00000103479.103.129E-7056419gtex_brain_ba24
rs99317021653526551RBL2ENSG00000103479.103.034E-7058662gtex_brain_ba24
rs93026481653527781RBL2ENSG00000103479.103.027E-7059892gtex_brain_ba24
rs18613511653533227RBL2ENSG00000103479.103.129E-7065338gtex_brain_ba24
rs18613501653533342RBL2ENSG00000103479.102.043E-7065453gtex_brain_ba24
rs80556421653537581RBL2ENSG00000103479.103.059E-7069692gtex_brain_ba24
rs575895571653490098RBL2ENSG00000103479.102.767E-60.0422209gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
DENND5B0.810.81
ASH1L0.810.82
XIAP0.800.81
PPP1R12A0.800.81
HOOK30.790.82
C9orf1020.790.80
PIKFYVE0.790.81
KIAA20180.790.82
BMPR20.780.78
SBNO10.780.80
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
ENHO-0.56-0.69
RHOC-0.55-0.63
HIGD1B-0.54-0.63
S100A16-0.54-0.60
AF347015.31-0.54-0.61
CST3-0.54-0.62
IFI27-0.52-0.61
HSD17B14-0.52-0.57
MT-CO2-0.52-0.59
DCXR-0.52-0.58

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AATFCHE-1 | CHE1 | DEDapoptosis antagonizing transcription factorAffinity Capture-WesternBioGRID12450794 
BIRC5API4 | EPR-1baculoviral IAP repeat-containing 5RBL2 (p130) interacts with the BIRC5 (survivin) promoter.BIND15271987 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetCo-localization
Reconstituted Complex
BioGRID11521194 
BRD2D6S113E | DKFZp686N0336 | FLJ31942 | FSH | FSRG1 | KIAA9001 | NAT | RING3 | RNF3bromodomain containing 2p130 interacts with BRD2 promoter.BIND15949438 
BRD8SMAP | SMAP2 | p120bromodomain containing 8p130 interacts with BRD8 promoter.BIND15949438 
BRF2BRFU | FLJ11052 | TFIIIB50BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like-HPRD,BioGRID10330166 
CCNA1-cyclin A1Reconstituted ComplexBioGRID10022926 
CCNA2CCN1 | CCNAcyclin A2-HPRD,BioGRID8253383 
CCNA2CCN1 | CCNAcyclin A2p130 interacts with the Cyclin A promoter region.BIND10766737 
CCNE1CCNEcyclin E1-HPRD,BioGRID8253383 
CDC6CDC18L | HsCDC18 | HsCDC6cell division cycle 6 homolog (S. cerevisiae)RBL2 (p130) interacts with the CDC6 promoter.BIND15861133 
CDC6CDC18L | HsCDC18 | HsCDC6cell division cycle 6 homolog (S. cerevisiae)p130 interacts with the Cdc6 promoter region.BIND10766737 
CDK2p33(CDK2)cyclin-dependent kinase 2-HPRD,BioGRID9188854 
CREG1CREGcellular repressor of E1A-stimulated genes 1-HPRD9710587 
E2F1E2F-1 | RBAP1 | RBBP3 | RBP3E2F transcription factor 1E2F-1 interacts with p130.BIND7892279 
E2F1E2F-1 | RBAP1 | RBBP3 | RBP3E2F transcription factor 1p130 interacts with the E2F1 promoter region.BIND10766737 
E2F2E2F-2E2F transcription factor 2RBL2 (p130) interacts with the E2F2 promoter.BIND15861133 
E2F4E2F-4E2F transcription factor 4, p107/p130-binding-HPRD,BioGRID11573202 
E2F4E2F-4E2F transcription factor 4, p107/p130-bindingE2F-4 interacts with p130.BIND7892279 
E2F5E2F-5E2F transcription factor 5, p130-binding-HPRD11756542 
E2F5E2F-5E2F transcription factor 5, p130-bindingE2F-5 interacts with p130.BIND7892279 
E2F5E2F-5E2F transcription factor 5, p130-bindingCo-purificationBioGRID7760804 
HBP1FLJ16340HMG-box transcription factor 1-HPRD,BioGRID9178770 
HDAC1DKFZp686H12203 | GON-10 | HD1 | RPD3 | RPD3L1histone deacetylase 1-HPRD,BioGRID10969803 
LIN9BARA | BARPsv | Lin-9 | TGS | TGS1lin-9 homolog (C. elegans)hMip130/TWIT interacts with p130.BIND15479636 
MCM7CDABP0042 | CDC47 | MCM2 | P1.1-MCM3 | P1CDC47 | P85MCM | PNAS-146minichromosome maintenance complex component 7-HPRD,BioGRID9566894 
MCM7CDABP0042 | CDC47 | MCM2 | P1.1-MCM3 | P1CDC47 | P85MCM | PNAS-146minichromosome maintenance complex component 7MCM7 interacts with p130.BIND9566894 
MDM2HDMX | MGC71221 | hdm2Mdm2 p53 binding protein homolog (mouse)p130 interacts with Mdm2.BIND15577944 
MT1GMGC12386 | MT1 | MT1Kmetallothionein 1GRBL2 (P130) interacts with the MT1G promoter.BIND15735762 
MYBL2B-MYB | BMYB | MGC15600v-myb myeloblastosis viral oncogene homolog (avian)-like 2p130 interacts with the B-myb promoter region.BIND10766737 
PHBPHB1prohibitin-HPRD,BioGRID10376528 
RAF1CRAF | NS5 | Raf-1 | c-Rafv-raf-1 murine leukemia viral oncogene homolog 1Raf-1 interacts with p130.BIND9819434 
RAF1CRAF | NS5 | Raf-1 | c-Rafv-raf-1 murine leukemia viral oncogene homolog 1-HPRD,BioGRID9819434 
RB1OSRC | RB | p105-Rb | pRb | pp110retinoblastoma 1Affinity Capture-WesternBioGRID10490602 
RBBP8CTIP | RIMretinoblastoma binding protein 8-HPRD,BioGRID9721205 
RBBP8CTIP | RIMretinoblastoma binding protein 8-HPRD9721205 |10449734 
RBBP9BOG | MGC9236 | RBBP10retinoblastoma binding protein 9-HPRD,BioGRID9697699 
RBL1CP107 | MGC40006 | PRB1 | p107retinoblastoma-like 1 (p107)p130 interacts with the p107 promoter region.BIND10766737 
SIN3BKIAA0700SIN3 homolog B, transcription regulator (yeast)-HPRD11959842 
SNW1Bx42 | MGC119379 | NCOA-62 | PRPF45 | Prp45 | SKIIP | SKIPSNW domain containing 1-HPRD,BioGRID12466551 
SUV39H1KMT1A | MG44 | SUV39Hsuppressor of variegation 3-9 homolog 1 (Drosophila)Affinity Capture-WesternBioGRID12588981 
TAF1BA2R | CCG1 | CCGS | DYT3 | KAT4 | N-TAF1 | NSCL2 | OF | P250 | TAF2A | TAFII250TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa-HPRD,BioGRID9242374 
UBTFNOR-90 | UBFupstream binding transcription factor, RNA polymerase I-HPRD11042686 
UXTART-27ubiquitously-expressed transcriptp130 interacts with the UXT chromatin.BIND11799066 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CELL CYCLE 12884All SZGR 2.0 genes in this pathway
KEGG TGF BETA SIGNALING PATHWAY 8664All SZGR 2.0 genes in this pathway
BIOCARTA ETS PATHWAY 1812All SZGR 2.0 genes in this pathway
SA PTEN PATHWAY 1714All SZGR 2.0 genes in this pathway
PID E2F PATHWAY 7448All SZGR 2.0 genes in this pathway
PID FOXO PATHWAY 4943All SZGR 2.0 genes in this pathway
REACTOME G0 AND EARLY G1 2513All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME G1 PHASE 3823All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G1 G1 S PHASES 13779All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634384All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE UP 10867All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER BASAL VS MESENCHYMAL UP 12145All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142669All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612367All SZGR 2.0 genes in this pathway
ROYLANCE BREAST CANCER 16Q COPY NUMBER UP 6344All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
FRIDMAN SENESCENCE UP 7760All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO ESTRADIOL DN 8252All SZGR 2.0 genes in this pathway
MAGRANGEAS MULTIPLE MYELOMA IGLL VS IGLK DN 2418All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA CD1 AND CD2 UP 8951All SZGR 2.0 genes in this pathway
THEILGAARD NEUTROPHIL AT SKIN WOUND DN 225163All SZGR 2.0 genes in this pathway
BRUNO HEMATOPOIESIS 6648All SZGR 2.0 genes in this pathway
WEIGEL OXIDATIVE STRESS RESPONSE 3528All SZGR 2.0 genes in this pathway
HEDENFALK BREAST CANCER HEREDITARY VS SPORADIC 5032All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP 262186All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN 9264All SZGR 2.0 genes in this pathway
CHUNG BLISTER CYTOTOXICITY DN 4429All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395249All SZGR 2.0 genes in this pathway
JISON SICKLE CELL DISEASE DN 18197All SZGR 2.0 genes in this pathway
ONO FOXP3 TARGETS DN 4223All SZGR 2.0 genes in this pathway
CARD MIR302A TARGETS 7762All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 DN 8251All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
BAKKER FOXO3 TARGETS UP 6141All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION UP 271165All SZGR 2.0 genes in this pathway
GUO TARGETS OF IRS1 AND IRS2 9867All SZGR 2.0 genes in this pathway