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    RBL2 retinoblastoma-like 2 (p130) [ Homo sapiens ]

    Gene ID: 5934, updated on 11-May-2012
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    Summary

    Official Symbol
    RBL2provided by HGNC
    Official Full Name
    retinoblastoma-like 2 (p130)provided by HGNC
    Primary source
    HGNC:9894
    See related
    Ensembl:ENSG00000103479; HPRD:01576; MIM:180203; Vega:OTTHUMG00000133198
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Rb2; P130; FLJ26459
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    Genomic context

    Location :
    16q12.2
    Sequence :
    Chromosome: 16; NC_000016.9 (53468351..53525560)
    See RBL2 in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene chromodomain helicase DNA binding protein 9 Neighboring gene thyroid hormone receptor interactor 13 pseudogene Neighboring gene thyroid hormone receptor interactor 13 pseudogene Neighboring gene u3 small nucleolar ribonucleoprotein protein MPP10-like Neighboring gene AKT interacting protein Neighboring gene RPGRIP1-like Neighboring gene fat mass and obesity associated Neighboring gene FTO intronic transcript 1 (non-protein coding)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. Li S, et al. Immunity, 2011 Sep 23. PMID 21903422.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Disruption of repressive p130-DREAM complexes by human papillomavirus 16 E6/E7 oncoproteins is required for cell-cycle progression in cervical cancer cells. Nor Rashid N, et al. J Gen Virol, 2011 Nov. PMID 21813705.
    4. [The cell cycle regulator p130 and beta-catenin form a complex in mesenchymal stem cells]. Petrov NS, et al. Tsitologiia, 2011. PMID 21516817.
    5. p63 maintains keratinocyte proliferative capacity through regulation of Skp2-p130 levels. McDade SS, et al. J Cell Sci, 2011 May 15. PMID 21511729.

    See all (122) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The results show that continued human papillomavirus 16 E6/E7 expression is necessary in cervical cancer cells to prevent cell-cycle arrest by a repressive p130-DREAM complex.
      Title: Disruption of repressive p130-DREAM complexes by human papillomavirus 16 E6/E7 oncoproteins is required for cell-cycle progression in cervical cancer cells.
    2. Hypoproliferation and loss of differentiation in organotypic raft cultures of primary neonatal human foreskin keratinocytes depleted of the alpha and beta isoforms of p63 result from p53-p21-mediated accumulation of retinoblastoma (Rb) family member p130.
      Title: p63 maintains keratinocyte proliferative capacity through regulation of Skp2-p130 levels.
    3. The activity of CTCF in controlling Rb2/p130 gene expression is impaired by BORIS, which by binding to the Rb2/p130 gene could trigger changes in the chromatin asset established by CTCF affecting CTCF regulatory activity on Rb2/p130 transcription.
      Title: CTCF and BORIS regulate Rb2/p130 gene transcription: a novel mechanism and a new paradigm for understanding the biology of lung cancer.
    4. Human papillomavirus E7 protein K39,42R mutation moderately increased the association with and the destabilization of p130.
      Title: Nonconserved lysine residues attenuate the biological function of the low-risk human papillomavirus E7 protein.
    5. Gsk3beta, p130 and beta-catenin form in MSC a complex the functional role of which may be associated with activation of differentiation not coupled to cell cycle arrest.
      Title: [The cell cycle regulator p130 and beta-catenin form a complex in mesenchymal stem cells].
    6. heterogeneous RB (pRb2 or p16) and p53 (p53, p14, or p21) pathway alterations occur frequently in Burkitt lymphoma
      Title: The RB (pRb2/p16) and p53 (p14/p53/p21) tumor-suppressor pathways in endemic Burkitt lymphoma.
    7. Loss of p130 accelerates tumor development in a mouse model for human small-cell lung carcinoma.
      Title: Loss of p130 accelerates tumor development in a mouse model for human small-cell lung carcinoma.
    8. Data suggest that KSHV miRNA targets multiple pathways to maintain KHSV latency, including repression of the viral protein Rta and a cellular factor, Rbl2, and increased cellular DNMT, in regulating global epigenetic reprogramming.
      Title: Epigenetic regulation of Kaposi's sarcoma-associated herpesvirus latency by virus-encoded microRNAs that target Rta and the cellular Rbl2-DNMT pathway.
    9. FTO influence RBL2 gene expression at large genetic distances
      Title: Genetic variation at the FTO locus influences RBL2 gene expression.
    10. The half-life of p130, relative to control cells, was decreased in the cytoplasm in the presence of human papillomavirus 6 E7 or human papillomavirus 16 E7, but only decreased by HPV 6 E7 in the nucleus.
      Title: Low- and high-risk human papillomavirus E7 proteins regulate p130 differently.
    Submit: New GeneRIF Correction See all (56)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed
    Tat tat HIV-1 Tat can inhibit the growth control activity exerted by pRb2/p130 in the T98G cell line, and results show that pRb2/p130 mRNA levels increase in the presence of Tat, whereas no change in the phosphorylation status of pRb2/p130 is observed PubMed
    tat HIV-1 Tat protein specifically binds to pRb2/p130 and data suggest this interaction results in the deregulation of the control exerted by pRb2/p130 on the cell cycle, indicating a potential role in AIDS-related oncogenesis PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_005602.2 U75285.1 BIRC5    BIND  PubMed RBL2 (p130) interacts with the BIRC5 (survivin) promoter. 
    NP_005602.2 NC_000006.9 BRD2    BIND  PubMed p130 interacts with BRD2 promoter. 
    NP_005602.2 NC_000005.8 BRD8    BIND  PubMed p130 interacts with BRD8 promoter. 
    NP_005602.2 NC_000004.9 CCNA2    BIND  PubMed p130 interacts with the Cyclin A promoter region. 
    NP_005602.2 NC_000017.9 CDC6    BIND  PubMed RBL2 (p130) interacts with the CDC6 promoter. 
    NP_005602.2 NC_000017.9 CDC6    BIND  PubMed p130 interacts with the Cdc6 promoter region. 
    NP_005602.2 NC_000020.9 E2F1    BIND  PubMed p130 interacts with the E2F1 promoter region. 
    NP_005602.2 NP_005216.1 E2F1    BIND  PubMed E2F-1 interacts with p130. 
    NP_005602.2 NC_000001.8 E2F2    BIND  PubMed RBL2 (p130) interacts with the E2F2 promoter. 
    NP_005602.2 NP_001941.2 E2F4    BIND  PubMed E2F-4 interacts with p130. 
    NP_005602.2 NP_001942.1 E2F5    BIND  PubMed E2F-5 interacts with p130. 
    NP_005602.2 AAH65302.1 LIN9    BIND  PubMed hMip130/TWIT interacts with p130. 
    NP_005602.2 BAA09534.1 MCM7    BIND  PubMed MCM7 interacts with p130. 
    NP_005602.2 MDM2    BIND  PubMed p130 interacts with Mdm2. 
    NP_005602.2 J03910.1 MT1G    BIND  PubMed RBL2 (P130) interacts with the MT1G promoter. 
    NP_005602.2 NC_000020.9 MYBL2    BIND  PubMed p130 interacts with the B-myb promoter region. 
    NP_005602.2 NP_002871.1 RAF1    BIND  PubMed Raf-1 interacts with p130. 
    NP_005602.2 NC_000020.9 RBL1    BIND  PubMed p130 interacts with the p107 promoter region. 
    NP_005602.2 NC_000023.8 UXT    BIND  PubMed p130 interacts with the UXT chromatin. 
    Q08999 Q92994 BRF1    HPRD  PubMed  
    Q08999 Transcription factor 2B related factor BRF2    HPRD  PubMed  
    Q08999 P78396 CCNA1    HPRD  PubMed  
    Q08999 P20248 CCNA2    HPRD  PubMed  
    Q08999 P24385 CCND1    HPRD  PubMed  
    Q08999 P30281 CCND3    HPRD  PubMed  
    Q08999 P24864 CCNE1    HPRD  PubMed  
    Q08999 P24941 CDK2    HPRD  PubMed  
    Q08999 O75629 CREG1    HPRD  PubMed  
    Q08999 Q13574 DGKZ    HPRD  PubMed  
    Q08999 Q16254 E2F4    HPRD  PubMed  
    Q08999 Q15329 E2F5    HPRD  PubMed  
    Q08999 O60381 HBP1    HPRD  PubMed  
    Q08999 Q13547 HDAC1    HPRD  PubMed  
    Q08999 Q02363 ID2    HPRD  PubMed  
    Q08999 P33993 MCM7    HPRD  PubMed  
    Q08999 P41218 MNDA    HPRD  PubMed  
    Q08999 P35232 PHB    HPRD  PubMed  
    Q08999 P04049 RAF1    HPRD  PubMed  
    Q08999 Q99708 RBBP8    HPRD  PubMed  
    Q08999 O75884 RBBP9    HPRD  PubMed  
    Q08999 Q6NUQ1 RINT1    HPRD  PubMed  
    Q08999 Q13573 SNW1    HPRD  PubMed  
    Q08999 O43463 SUV39H1    HPRD  PubMed  
    Q08999 Q9BRZ6 SUV420H2    HPRD  PubMed  
    Q08999 P21675 TAF1    HPRD  PubMed  
    Q08999 P17480 UBTF    HPRD  PubMed  
    BioGRID:111869 BioGRID:117743 AATF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:107140 BRCA1    BioGRID  PubMed Co-localization; Reconstituted Complex 
    BioGRID:111869 BioGRID:109227 BRF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111869 BioGRID:114417 CCNA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111869 BioGRID:107331 CCNA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:107338 CCNE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:107452 CDK2    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:111869 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:108206 E2F4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111869 BioGRID:108207 E2F5    BioGRID  PubMed Affinity Capture-MS; Co-purification 
    BioGRID:111869 BioGRID:108446 EZH2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111869 BioGRID:117927 HBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:111869 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:109624 ID2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:109869 IRF3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111869 BioGRID:121008 LIN37    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111869 BioGRID:124874 LIN52    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111869 BioGRID:126328 LIN54    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111869 BioGRID:130420 LIN9    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111869 BioGRID:110344 MCM7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111869 BioGRID:111125 PCBD1    BioGRID  PubMed Two-hybrid 
    BioGRID:111869 BioGRID:111264 PHB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:111869 BioGRID:111507 PPP2CA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111869 BioGRID:111831 RAF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:111869 BioGRID:111860 RB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:111863 RBBP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111869 BioGRID:111867 RBBP8    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111869 BioGRID:115964 RBBP9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:111868 RBL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:111092 SERPINB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:112391 SKP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:112393 SKP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:116597 SNW1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111869 BioGRID:112706 SUV39H1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:112735 TAF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111869 BioGRID:112885 TFDP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111869 BioGRID:112887 TFDP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111869 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111869 BioGRID:113221 USP4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111869 BioGRID:113331 XBP1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
      Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • FoxO family signaling, organism-specific biosystem (from Pathway Interaction Database)
      FoxO family signaling, organism-specific biosystem
      FoxO family signaling
    • G0 and Early G1, organism-specific biosystem (from REACTOME)
      G0 and Early G1, organism-specific biosystemIn G0 and early G1 in quiescent cells, p130 (RBL2) bound to E2F4 or E2F5 and either DP1 or DP2, associates with the MuvB complex, forming an evolutionarily conserved DREAM complex, that represses tra...
    • G1 Phase, organism-specific biosystem (from REACTOME)
      G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
    • Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • Monoamine Transport, organism-specific biosystem (from WikiPathways)
      Monoamine Transport, organism-specific biosystem
      Monoamine Transport
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    G1 phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of lipid kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    chromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    retinoblastoma-like protein 2
    Names
    retinoblastoma-like protein 2
    PRB2
    RBR-2
    retinoblastoma-related protein 2
    130 kDa retinoblastoma-associated protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005611.3 → NP_005602.3  retinoblastoma-like protein 2

      Status: VALIDATED

      Source sequence(s)
      BC034490, DB017942, X76061
      Consensus CDS
      CCDS10748.1
      UniProtKB/Swiss-Prot
      Q08999
      UniProtKB/TrEMBL
      Q8NE70
      Related
      ENSP00000262133, OTTHUMP00000164255, ENST00000262133, OTTHUMT00000256908
      Conserved Domains (4) summary
      pfam08934
      Location:1027 – 1113
      Blast Score: 87
      Rb_C; Rb C-terminal domain
      pfam11934
      Location:97 – 239
      Blast Score: 425
      DUF3452; Domain of unknown function (DUF3452)
      pfam01858
      Location:417 – 609
      Blast Score: 758
      RB_A; Retinoblastoma-associated protein A domain
      cl00050
      Location:834 – 945
      Blast Score: 506
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      53468351..53525560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      39355821..39413031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC007342.6 (28336..85496) None
    genomic CH471092.1 EAW82801.1
      EAW82802.1
    genomic U53220.1 AAC50479.1
    mRNA AK129969.1 None
    mRNA AK300047.1 BAG61857.1
    mRNA AK304283.1 BAH14149.1
    mRNA AK307881.1 None
    mRNA BC034490.1 AAH34490.1
    mRNA BX537767.1 CAD97830.1
    mRNA DB017942.1 None
    mRNA S67171.1 AAB29227.1
    mRNA X74594.1 CAA52671.1
    mRNA X76061.1 CAA53661.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08999.3 GenPept UniProtKB/Swiss-Prot:Q08999
    Q7Z3L2 GenPept UniProtKB/TrEMBL:Q7Z3L2
    Q8NE70 GenPept UniProtKB/TrEMBL:Q8NE70
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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      Supplemental Content

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