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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBL2 Gene

protein-coding   GIFtS: 64
GCID: GC16P053467

retinoblastoma-like 2 (p130)

 Explore 46 diseases affiliated with
RBL2 via our new
 Human Malady Compendium 
Biological research products
for RBL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Retinoblastoma-Like 2 (P130)1 2     P1302
Rb21 2     PRB22
P1302     Retinoblastoma-Like Protein 22
Retinoblastoma-Related Protein 22 3     RB23
130 KDa Retinoblastoma-Associated Protein2 3     PRb21
RBR-22 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RBL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus
Developmental stage: G0-restricted expression
Secondary accessions: Q15073 Q16084 Q92812

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q08999

  • RBL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005602.3  
    ENSEMBL proteins: 
     ENSP00000462464   ENSP00000262133   ENSP00000443744   ENSP00000444685  
    Reactome Protein details: Q08999
    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RBL2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005730nucleolus IDA--


    RBL2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RBL2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013763 Cyclin-like
     IPR024599 DUF3452_retinoblatoma-assoc
     IPR002720 RB_A
     IPR002719 RB_B

    Graphical View of Domain Structure for InterPro Entry Q08999

    ProtoNet protein and cluster: Q08999

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


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

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

    OriGene 3'-UTR Clone: RBL2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RBL2
    8/38 QIAGEN miScript miRNA 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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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI17620057


    RBL2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for RBL2: Rbl2tm1Mru Rbl2tm1Tyj Rbl2tm1Htr Rbl2tm2.1Tyj
         15/19 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rbl2) (see all 19):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging 
     muscle  nervous system  no phenotypic analysis  normal  reproductive system 

    RBL2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/17 super-pathways (see all 17About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell cycle_Cell cycle (generic schema)
    Cell cycle_Cell cycle (generic schema)1.00
    Cell cycle Regulation of G1/S transition (part 2)0.38
    Cell cycle Cell cycle (generic schema)1.00
    G0 and Early G10.31
    Cell cycle_Regulation of G1/S transition (part 2)0.38
    2Cell cycle_Role of SCF complex in cell cycle regulation
    Cell cycle_Role of SCF complex in cell cycle regulation1.00
    Cell cycle Role of SCF complex in cell cycle regulation0.98
    3Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84
    4Cell cycle ESR1 regulation of G1/S transition
    Cell cycle ESR1 regulation of G1/S transition1.00
    Cell cycle_ESR1 regulation of G1/S transition0.97
    5Cyclins and Cell Cycle Regulation
    G1 Phase0.32
    Cyclin D associated events in G10.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore 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

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/8 BioSystems Pathways for RBL2 (see all 8
        Adipogenesis
    DNA damage response (only ATM dependent)
    TSH signaling pathway
    Monoamine Transport
    Id Signaling Pathway

    5/6        Reactome Pathways for RBL2 (see all 6)
        G1 Phase
    Mitotic G1-G1/S phases
    G0 and Early G1
    Cell Cycle
    Cell Cycle, Mitotic


    2         Kegg Pathways  (Kegg details for RBL2):
        Cell cycle
    TGF-beta signaling pathway


    RBL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBL2

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

    5/94 Interacting proteins for RBL2 (Q089991, 2, 3 ENSP000002621334) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F4Q162542, 3, ENSP000003686864MINT-8309355 MINT-8309367 MINT-8309378 I2D: score=5 STRING: ENSP00000368686
    PPP2CAP677752, 3, ENSP000004184474MINT-8204421 MINT-8204406 I2D: score=2 STRING: ENSP00000418447
    RBBP8Q997082, 3, ENSP000003230504MINT-16160 MINT-16159 I2D: score=3 STRING: ENSP00000323050
    LIN54Q6MZP72, 3, ENSP000003419474MINT-7239362 I2D: score=3 STRING: ENSP00000341947
    RBL1P287492, 3, ENSP000003627684MINT-8204414 I2D: score=2 STRING: ENSP00000362768
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000080G1 phase of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0016568chromatin modification IEA--


    RBL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RBL2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBL2
    9 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about RBL2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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
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    Inhib. RNA
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    Additional cDNA 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 

    24/298 AceView cDNA sequences (see all 298):

    BM976473 AI459215 AA883913 AV716056 AL702815 AI784550 BQ771822 AW118278 
    AI248936 AW505566 AW512616 AI201018 AA829754 R39808 AI754024 BQ182434 
    AI651085 BG181097 AA169617 BM853433 BE221314 BP382980 AL602812 AI418390 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTGTAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RBL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBL2

    SOURCE GeneReport for Unigene cluster: Hs.513609
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RBL2 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC4251116
    --
    Uncharacterized protein
    79(a)
    67(a)
    1 ↔ many
    1 ↔ many
    Un(51969014-51984765)
    11(5083336-5103410)
    lizard
    (Anolis carolinensis)
    Reptilia RBL26
    --
    74(a)
    1 ↔ 1
    LGc(430460-453890)
    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) 63.01(n)
    64.29(a)
      100331892  XM_002666954.2  XP_002667000.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbf1 Retinoblastoma-family protein 45.97(n)
    35.08(a)
      31027  NM_080297.2  NP_525036.2 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-356
    abnormal cell LINeage family member (lin-35)
    20(a)
    1 → many
    I(5807712-5815640)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATRBR16
    Retinoblastoma-related protein 1
    20(a)
    1 → many
    3(3913412-3919170)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    retinoblastoma-related protein-like, putative, exp...
    retinoblastoma-related protein-like, putative, exp...
    21(a)
    20(a)
    many ↔ many
    many ↔ many
    8(26919480-26925624)
    11(18967142-18973591)


    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1016 NCBI SNPs in RBL2 are shown (see all 1016    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410035041,2
    --53466400(+) CAGGCC/TTAGGC 1 -- us2k10--------
    rs1502078831,2
    --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
    --53466789(+) TACCTA/GATTTT 1 -- us2k10--------
    rs1871269471,2
    --53466939(+) CCTTCC/TGAATC 1 -- us2k10--------
    rs1456599191,2
    C,--53467043(+) AAAAT-/AAAG  
            
    AAAGG
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBL2 (53467889 - 53525561 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RBL2: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RBL2 for disorders           About GeneDecksing

    OMIM gene information: 180203    OMIM disorders: --

    20/46 diseases for RBL2 (see all 46):    About MalaCards
    retinoblastoma    unilateral retinoblastoma    non-hodgkin lymphoma    soft tissue sarcoma
    bilateral retinoblastoma    oral squamous cell carcinoma    squamous cell carcinoma    hodgkin's lymphoma
    cytomegalovirus infection    chronic lymphocytic leukemia    burkitt's lymphoma    lymphocytic leukemia
    myeloid leukemia    kaposi's sarcoma    malignant glioma    carcinoma
    ovarian cancer    bladder carcinoma    sarcoma    osteosarcoma

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

    10/17 Novoseek 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)

    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)
    About This Section

    PubMed articles for RBL2 gene, integrated from 9 sources (see all 328):
    (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. (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. (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. (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. (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. (1993)
    6. 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. (2007)
    7. The Rb-related p130 protein controls telomere lengthening through an interaction with a Rad50-interacting protein, RINT-1. (PubMed id 16600870)1, 2 Kong L.-J.... Nevins J.R. (2006)
    8. Che-1 affects cell growth by interfering with the recruitment of HDAC1 by Rb. (PubMed id 12450794)1, 2 Bruno T.... Fanciulli M. (2002)
    9. Phosphorylation of the retinoblastoma-related protein p130 in growth- arrested cells. (PubMed id 11042701)1, 2 Canhoto A.J.... DeCaprio J.A. (2000)
    10. SKP2 associates with p130 and accelerates p130 ubiquitylation and degradation in human cells. (PubMed id 12717421)1, 9 Bhattacharya S....Grana X. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5934 HGNC: 9894 AceView: RBL2 Ensembl:ENSG00000103479 euGenes: HUgn5934
    ECgene: RBL2 Kegg: 5934 H-InvDB: RBL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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