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RBL2 Gene

protein-coding   GIFtS: 66
GCID: GC16P053467

Retinoblastoma-Like 2

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinoblastoma-Like 21 2     Rb22
Retinoblastoma-Related Protein 22 3     Retinoblastoma-Like Protein 22
130 KDa Retinoblastoma-Associated Protein2 3     RB23
RBR-22 3     p1303
P1302     pRb23
PRB22     

External Ids:    HGNC: 98941   Entrez Gene: 59342   Ensembl: ENSG000001034797   OMIM: 1802035   UniProtKB: Q089993   

Export aliases for RBL2 gene to outside databases

Previous GC identifers: GC16P043882 GC16P053523 GC16P053206 GC16P053246 GC16P053247 GC16P052025 GC16P039355


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RBL2 Gene:
RBL2 (retinoblastoma-like 2) is a protein-coding gene. Diseases associated with RBL2 include unilateral retinoblastoma, and bilateral retinoblastoma. An important paralog of this gene is RB1.

UniProtKB/Swiss-Prot: RBL2_HUMAN, Q08999
Function: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining
overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone
methylation. Recruits and targets histone methyltransferases SUV420H1 and SUV420H2, leading to epigenetic
transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription
repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated
trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in
the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor

Gene Wiki entry for RBL2 (Retinoblastoma-like protein 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBL2 gene promoter:
         TBP   ISGF-3   HTF   Nkx2-5   Tal-1beta   Evi-1   SRY   CBF-B   CBF-A   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): RBL2 promoter sequence
   Search Chromatin IP Primers for RBL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12.2   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q12.2

RBL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBL2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P053467:  view genomic region     (about GC identifiers)

Start:
53,467,889 bp from pter      End:
53,525,561 bp from pter
Size:
57,673 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RBL2_HUMAN, Q08999 (See protein sequence)
Recommended Name: Retinoblastoma-like protein 2  
Size: 1139 amino acids; 128367 Da
Subunit: Interacts with AATF. Interacts with SUV420H1, SUV420H2 and USP4 (By similarity). Component of the DREAM
complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1,
RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent
genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2.
Interacts with RINT1. Interacts with PML (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform
PML-5)
Developmental stage: G0-restricted expression
Secondary accessions: Q15073 Q16084 Q92812

Explore the universe of human proteins at neXtProt for RBL2: NX_Q08999

Explore proteomics data for RBL2 at MOPED

Post-translational modifications: 

  • During G0 and early G1 phase of the cell cycle, phosphorylated on Ser-639 and on 5 sites within the domain B.
    Phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis1
  • Ubiquitination2 at Lys384
  • Modification sites at PhosphoSitePlus

  • See RBL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005602.3  
    ENSEMBL proteins: 
     ENSP00000462464   ENSP00000262133   ENSP00000443744   ENSP00000444685  
    Reactome Protein details: Q08999

    RBL2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for RBL2
    OriGene Protein Over-expression Lysate for RBL2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RBL2
    GenScript Custom Purified and Recombinant Proteins Services for RBL2
    Novus Biologicals RBL2 Protein
    Novus Biologicals RBL2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBL2

    RBL2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RBL2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for RBL2
    OriGene Custom Antibody Services for RBL2
    Novus Biologicals RBL2 Antibodies
    Abcam antibodies for RBL2
    Cloud-Clone Corp. Antibodies for RBL2
    ThermoFisher Antibody for RBL2
    LSBio Antibodies in human, mouse, rat for RBL2

    RBL2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RBL2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RBL2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RBL2
    Cloud-Clone Corp. CLIAs for RBL2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR028309 RB_fam
     IPR013763 Cyclin-like
     IPR028308 RB2
     IPR024599 RB_N
     IPR002720 RB_A

    Graphical View of Domain Structure for InterPro Entry Q08999

    ProtoNet protein and cluster: Q08999

    2 Blocks protein domains:
    IPB002720 Retinoblastoma-associated protein
    IPB006670 Cyclin


    UniProtKB/Swiss-Prot: RBL2_HUMAN, Q08999
    Similarity: Belongs to the retinoblastoma protein (RB) family


    RBL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBL2_HUMAN, Q08999
    Function: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining
    overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone
    methylation. Recruits and targets histone methyltransferases SUV420H1 and SUV420H2, leading to epigenetic
    transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription
    repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated
    trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in
    the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor

         Genatlas biochemistry entry for RBL2:
    retinoblastoma related protein RB2/p130,involved in cell cycle regulation interacting with E2F-like transcription
    factor and with cyclin (A/E) CDK2 complexes

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI1331501
         
    RBL2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RBL2:
     G0/1 arrest  Increased G1 DNA content 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rbl2) (see all 19):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging 
     muscle  nervous system  no phenotypic analysis  normal  reproductive system 

    RBL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RBL2: Rbl2tm1Mru Rbl2tm1Tyj Rbl2tm1Htr Rbl2tm2.1Tyj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBL2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RBL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBL2

    miRNA
    Products:
        
    miRTarBase miRNAs that target RBL2:
    kshv-mir-k12-4-5p (MIRT003218), hsa-mir-335-5p (MIRT019207), hsa-mir-20a-5p (MIRT005859), hsa-mir-106b-5p (MIRT005867), hsa-mir-17-5p (MIRT005852), hsa-mir-192-5p (MIRT004139)

    Block miRNA regulation of human, mouse, rat RBL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBL2 (see all 38):
    hsa-miR-26a-2* hsa-miR-4272 hsa-miR-106a hsa-miR-25 hsa-miR-628-3p hsa-miR-629* hsa-miR-93 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidRBL2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RBL2
    Predesigned siRNA for gene silencing in human, mouse, rat RBL2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RBL2

    Clone
    Products:
         
    OriGene clones in human, mouse for RBL2 (see all 7)
    OriGene ORF clones in mouse, rat for RBL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RBL2 (NM_005611)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBL2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RBL2
    Browse ESI BIO Cell Lines and PureStem Progenitors for RBL2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBL2_HUMAN, Q08999: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    RBL2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RBL2 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell cycle Regulation of G1 S transition part 2
    Cell cycle Cell cycle generic schema 0.38
    Cell cycle ESR1 regulation of G1 S transition0.33
    Cell cycle Regulation of G1 S transition part 2 0.38
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    3Cyclins and Cell Cycle Regulation
    G1 Phase0.31
    Cyclin D associated events in G10.31
    4E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    5Cell cycle
    Cell cycle0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RBL2
        Macrophage Differentiation and Growth Inhibition by METS

    4 GeneGo (Thomson Reuters) Pathways for RBL2
        Cell cycle Regulation of G1/S transition (part 2)
    Cell cycle ESR1 regulation of G1/S transition
    Cell cycle Cell cycle (generic schema)
    Cell cycle Role of SCF complex in cell cycle regulation

    Selected BioSystems Pathways for RBL2 (see all 8)
        Adipogenesis
    DNA damage response (only ATM dependent)
    TGF-beta Receptor Signaling Pathway
    Monoamine Transport
    Id Signaling Pathway

    2 Reactome Pathways for RBL2
        G0 and Early G1
    Cyclin D associated events in G1


    4 Kegg Pathways  (Kegg details for RBL2):
        FoxO signaling pathway
    Cell cycle
    PI3K-Akt signaling pathway
    Viral carcinogenesis


    RBL2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBL2: 
              HIV Host Response in human mouse rat
              Cell Cycle in human mouse rat
              Stem Cell Signaling in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RBL2 (Q089991, 2, 3 ENSP000002621334) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIN54Q6MZP71, 2, 3, ENSP000003419474EBI-971439,EBI-1389411 MINT-7239362 I2D: score=3 STRING: ENSP00000341947
    E2F4Q162542, 3, ENSP000003686864MINT-8309355 MINT-8309367 MINT-8309378 I2D: score=5 STRING: ENSP00000368686
    PPP2CAP677751, 2, 3, ENSP000004184474EBI-971439,EBI-712311 MINT-8204421 MINT-8204406 I2D: score=2 STRING: ENSP00000418447
    RBBP8Q997082, 3, ENSP000003230504MINT-16160 MINT-16159 I2D: score=3 STRING: ENSP00000323050
    RBL1P287492, 3, ENSP000003627684MINT-8204414 I2D: score=2 STRING: ENSP00000362768
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0007049cell cycle ----
    GO:0016568chromatin modification IEA--

    RBL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBL2

    9 Novoseek inferred chemical compound relationships for RBL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hpvs 49 3 9094616 (1), 16282477 (1), 20189212 (1)
    polypropylene glycol 41.8 1 16880778 (1)
    lactacystin 28.2 3 12717421 (1), 11798183 (1)
    threonine 22.4 1 11593413 (1)
    tgf beta1 20.8 5 11027571 (3), 10830731 (1)
    serine 9.67 1 11593413 (1)
    atp 0 1 9278460 (1)
    tyrosine 0 2 10438590 (1), 16685275 (1)
    alanine 0 1 11152455 (1)



    RBL2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBL2 gene: 
    NM_005611.3  

    Unigene Cluster for RBL2:

    Retinoblastoma-like 2 (p130)
    Hs.513609  [show with all ESTs]
    Unigene Representative Sequence: BC034490
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567964 ENST00000262133(uc010vgv.1 uc002ehi.4) ENST00000544405
    ENST00000379935(uc002ehj.3 uc010vgw.2) ENST00000561512 ENST00000562850
    ENST00000562837 ENST00000564605 ENST00000544545
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat RBL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBL2 (see all 38):
    hsa-miR-26a-2* hsa-miR-4272 hsa-miR-106a hsa-miR-25 hsa-miR-628-3p hsa-miR-629* hsa-miR-93 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidRBL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RBL2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RBL2 (NM_005611)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBL2
    Primer
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    OriGene qPCR primer pairs and template standards for RBL2
    OriGene qSTAR qPCR primer pairs in human, mouse for RBL2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RBL2
      QuantiTect SYBR Green Assays in human, mouse, rat RBL2
      QuantiFast Probe-based Assays in human, mouse, rat RBL2

    Additional mRNA sequence: 

    AK123139.1 AK129969.1 AK300047.1 AK304283.1 AK307881.1 BC034490.1 BX537767.1 S67171.1 
    X74594.1 X76061.1 

    14 DOTS entries:

    DT.448175  DT.91760647  DT.101982580  DT.102842873  DT.75187900  DT.91760638  DT.101972380  DT.100726254 
    DT.437607  DT.120659947  DT.40265189  DT.95360299  DT.91681351  DT.100653052 

    Selected AceView cDNA sequences (see all 298):

    AI422510 CB267156 BU952559 AI651085 R39808 CA848984 AI459215 BM976473 
    AI248936 AI784550 AI918422 AI638618 AW264746 CA449347 AI690361 BU789688 
    AI624870 AL702815 CA844302 AL602812 CA411759 S67171 AI354322 BP382980 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RBL2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^
    SP1:                    -                             -                                               -     -                 -                       -         
    SP2:                                                                                                  -     -                 -                       -         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22a · 22b ^ 23 ^ 24
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for RBL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBL2 expression in normal human tissues (normalized intensities)      RBL2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTTGTAAC
    RBL2 Expression
    About this image


    RBL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    RBL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513609
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBL2: 
              HIV Host Response in human mouse rat
              Cell Cycle in human mouse rat
              Stem Cell Signaling in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Cellular Senescence in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RBL2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbl21 , 5 retinoblastoma-like 21, 5 87.7(n)1
    91.82(a)1
      8 (44.25 cM)5
    196511  NM_011250.41  NP_035380.31 
     910700575 
    chicken
    (Gallus gallus)
    Aves RBL26
    retinoblastoma-like protein 2
    82(a)
    1 ↔ 1
    11(4474789-4490821)
    lizard
    (Anolis carolinensis)
    Reptilia RBL26
    retinoblastoma-like 2 (p130)
    72(a)
    1 ↔ 1
    LGc(430207-453916)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.302162 Xenopus laevis transcribed sequence with moderate similarity more 75.98(n)    48025346 
    zebrafish
    (Danio rerio)
    Actinopterygii rbl21 retinoblastoma-like 2 (p130) 63.39(n)
    64.97(a)
      100331892  XM_002666954.3  XP_002667000.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbf1 Retinoblastoma-family protein 45.83(n)
    34.95(a)
      31027  NM_080297.2  NP_525036.2 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-356
    Protein LIN-35 (lin-35) mRNA, complete cds
    21(a)
    1 → many
    I(5807709-5815637) WBGene00003020


    ENSEMBL Gene Tree for RBL2 (if available)
    TreeFam Gene Tree for RBL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBL2 gene
    RB12  RBL12  
    3 SIMAP similar genes for RBL2 using alignment to 5 protein entries:     RBL2_HUMAN (see all proteins):
    DKFZp781K2028    RB1    RBL1

    RBL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBL2 (see all 1229)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893755741,2
    C--39353832(+) TGAGCC/TACCGC 1 -- us2k10--------
    rs1410035041,2
    --53466400(+) CAGGCC/TTAGGC 1 -- us2k10--------
    rs1502078831,2
    C--53466426(+) GTCTCC/TCAAGT 1 -- us2k10--------
    rs1812229861,2
    --53466438(+) GCTAGA/GATTAC 1 -- us2k10--------
    rs1857238871,2
    --53466447(+) ACAGGC/TGTGTA 1 -- us2k10--------
    rs1890141781,2
    --53466623(+) CTTCTA/CAACCA 1 -- us2k10--------
    rs1388921421,2
    --53466634(+) TTTGTC/GTTCAA 1 -- us2k10--------
    rs1816283941,2
    --53466675(+) ACTCAC/TCACTT 1 -- us2k10--------
    rs1432061201,2
    C--53466789(+) TACCTA/GATTTT 1 -- us2k10--------
    rs1871269471,2
    --53466939(+) CCTTCC/TGAATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBL2 (53467889 - 53525561 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RBL2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBL2
    DNA2.0 Custom Variant and Variant Library Synthesis for RBL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180203    OMIM disorders: --

    Selected diseases for RBL2 (see all 44):    About MalaCards
    unilateral retinoblastoma    bilateral retinoblastoma    retinoblastoma    soft tissue sarcoma
    papilloma    cytomegalovirus infection    pharyngitis    osteosarcoma
    bladder carcinoma    burkitt's lymphoma    lung cancer    malignant glioma
    kaposi's sarcoma    sarcoma    lung adenocarcinoma    nasopharyngitis
    oral squamous cell carcinoma    non-hodgkin lymphoma    intellectual disability    hodgkin's lymphoma

    1 disease from the University of Copenhagen DISEASES database for RBL2:
    Retinoblastoma

    RBL2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for RBL2 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 92.1 101 12454024 (3), 9092557 (2), 9916999 (2), 9192669 (2) (see all 84)
    tumors 49 46 9192669 (3), 10621854 (2), 19151761 (2), 8084002 (1) (see all 34)
    myeloid leukemia 30.9 1 18294958 (1)
    cancer 28.8 6 19887614 (2), 9271426 (1), 8622649 (1), 19014670 (1) (see all 5)
    osteosarcoma 25.8 2 11152455 (1), 11521191 (1)
    papilloma 22.3 1 9192669 (1)
    allelic loss 13.3 2 10621854 (1), 8253383 (1)
    breast carcinoma 4.67 3 11506494 (1), 10621854 (1), 8253383 (1)
    prostate cancer 2.33 1 18418057 (1)
    carcinoma squamous cell 0 5 10621854 (2), 11710944 (1)

    Genetic Association Database (GAD): RBL2
    Human Genome Epidemiology (HuGE) Navigator: RBL2 (6 documents)

    Export disorders for RBL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBL2 gene, integrated from 10 sources (see all 343):
    (articles sorted by number of sources associating them with RBL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure of the human retinoblastoma-related Rb2/p130 gene. (PubMed id 8643454)1, 2, 3 Baldi A.... Giordano A. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. Cloning of a new member of the retinoblastoma gene family (pRb2) which binds to the E1A transforming domain. (PubMed id 8361765)1, 2, 3 Mayol X.... Giordano A. (Oncogene 1993)
    3. The pRb-related protein p130 is regulated by phosphorylation- dependent proteolysis via the protein-ubiquitin ligase SCF(Skp2). (PubMed id 12435635)1, 2, 9 Tedesco D.... Reed S.I. (Genes Dev. 2002)
    4. The adenovirus E1A-associated 130-kD protein is encoded by a member of the retinoblastoma gene family and physically interacts with cyclins A and E. (PubMed id 8253383)1, 2, 9 Li Y.... Whyte P. (Genes Dev. 1993)
    5. Isolation of the Rb-related p130 through its interaction with CDK2 and cyclins. (PubMed id 8253384)1, 2, 9 Hannon G.J.... Beach D. (Genes Dev. 1993)
    6. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    7. Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis. (PubMed id 19738611)1, 4 Cunningham J.M....Goode E.L. (Br. J. Cancer 2009)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    9. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (Cancer Res. 2008)
    10. LINC, a human complex that is related to pRB-containing complexes in invertebrates regulates the expression of G2/M genes. (PubMed id 17671431)1, 2 Schmit F.... Gaubatz S. (Cell Cycle 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5934 HGNC: 9894 AceView: RBL2 Ensembl:ENSG00000103479 euGenes: HUgn5934
    ECgene: RBL2 Kegg: 5934 H-InvDB: RBL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBL2 gene:
    Search GeneIP for patents involving RBL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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