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RBBP8 Gene

protein-coding   GIFtS: 60
GCID: GC18P020378

Retinoblastoma Binding Protein 8

(Previous names: retinoblastoma-binding protein 8, Seckel syndrome 2)
(Previous symbol: SCKL2)
  See RBBP8-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 Binding Protein 81 2     SAE22 3
CtBP-Interacting Protein1 2 3     JWDS2 5
SCKL21 2 5     Seckel Syndrome 21
RIM2 3 5     COM12
Retinoblastoma-Binding Protein 81 3     DNA Endonuclease RBBP82
Sporulation In The Absence Of SPO11 Protein 2 Homolog2 3     CtIP3
CTIP2 3     EC 3.1.-.-3
RBBP-82 3     Retinoblastoma-Interacting Protein And Myosin-Like3

External Ids:    HGNC: 98911   Entrez Gene: 59322   Ensembl: ENSG000001017737   OMIM: 6041245   UniProtKB: Q997083   

Export aliases for RBBP8 gene to outside databases

Previous GC identifers: GC18P020402 GC18P020243 GC18P018765 GC18P018767 GC18P020513 GC18P017367


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBBP8 Gene:
The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins
that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with
transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of
BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this
gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two
different isoforms have been found for this gene. More transcript variants exist, but their full-length natures
have not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for RBBP8 Gene:
RBBP8 (retinoblastoma binding protein 8) is a protein-coding gene. Diseases associated with RBBP8 include jawad syndrome, and seckel syndrome type 2. GO annotations related to this gene include damaged DNA binding and RNA polymerase II transcription corepressor activity. An important paralog of this gene is RBBP8NL.

UniProtKB/Swiss-Prot: COM1_HUMAN, Q99708
Function: Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic
double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends.
Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2
phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation
and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining
(A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations

Gene Wiki entry for RBBP8 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 at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBBP8 gene promoter:
         SRF   Egr-3   FOXJ2 (long isoform)   Nkx2-2   SRF (504 AA)   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RBBP8 promoter sequence
   Search Chromatin IP Primers for RBBP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBBP8


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

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

RBBP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBBP8 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P020378:  view genomic region     (about GC identifiers)

Start:
20,378,224 bp from pter      End:
20,606,451 bp from pter
Size:
228,228 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COM1_HUMAN, Q99708 (See protein sequence)
Recommended Name: DNA endonuclease RBBP8  
Size: 897 amino acids; 101942 Da
Subunit: Homodimer; dimerizes via the coiled coil domain. Interacts (via the PXDLS motif) with CTBP1; the
interaction is disrupted via binding of the adenovirus E1A to CTBP1. Component of the BRCA1-RBBBP8 complex.
Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs
in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage.
Interacts with RB1. Interacts with the MRN complex. Interacts directly with MRE11A; the interaction is required
for efficient homologous recombination (HR) and regulation of the MRN complex. Interacts directly with RAD50.
Interacts directly with NBN. Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage. Interacts
with LM04 (via the LIM zinc-binding 1 domain)
1 PDB 3D structure from and Proteopedia for RBBP8:
2L4Z (3D)    
Secondary accessions: A6NKN2 A8K8W6 E7ETY1 O75371 Q8NHQ3
Alternative splicing: 3 isoforms:  Q99708-1   Q99708-2   Q99708-3   (No experimental confirmation available. Ref.4 (BX648221) sequence is in conflict in position: 862:S->G)

Explore the universe of human proteins at neXtProt for RBBP8: NX_Q99708

Explore proteomics data for RBBP8 at MOPED

Post-translational modifications: 

  • Acetylated. Deacetylation by SIRT6 upon DNA damage promotes DNA end resection1
  • Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by
    CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells
    enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition
    checkpoint control1
  • Ubiquitinated. Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its
    proteosomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play
    a role in G2/M checkpoint control1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBBP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_002885.1  NP_976036.1  NP_976037.1  

    ENSEMBL proteins: 
     ENSP00000464628   ENSP00000462390   ENSP00000464284   ENSP00000463738   ENSP00000463439  
     ENSP00000323050   ENSP00000382628   ENSP00000382630   ENSP00000382627   ENSP00000463908  
     ENSP00000354024   ENSP00000463310   ENSP00000477396   ENSP00000464691   ENSP00000463544  
    Reactome Protein details: Q99708

    RBBP8 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RBBP8

     
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    Search eBioscience for ELISAs for RBBP8 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR013882 DNA-repair_Sae2/CtIP
     IPR019518 CtIP_N

    Graphical View of Domain Structure for InterPro Entry Q99708

    ProtoNet protein and cluster: Q99708

    UniProtKB/Swiss-Prot: COM1_HUMAN, Q99708
    Domain: The PXDLS motif binds to a cleft in CtBP proteins
    Domain: The damage-recruitment motif is required for DNA binding and translocation to sites of DNA damage
    Similarity: Belongs to the COM1/SAE2/CtIP family


    Find genes that share domains with RBBP8           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COM1_HUMAN, Q99708
    Function: Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic
    double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends.
    Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2
    phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation
    and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining
    (A-NHEJ) during class-switch recombination and plays an essential role in chromosomal translocations
    Induction: Levels increase dramatically as dividing cells traverse the G1/S boubdary. Down-regulated in
    tamoxifen-resistant breast cancer cells

         Genatlas biochemistry entry for RBBP8:
    retinoblastoma binding protein,ubiquitously expressed

         Enzyme Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000014single-stranded DNA endodeoxyribonuclease activity IMP18716619
    GO:0001103RNA polymerase II repressing transcription factor binding IPI16287852
    GO:0001106RNA polymerase II transcription corepressor activity IDA16287852
    GO:0003684damaged DNA binding IDA18716619
    GO:0005515protein binding IPI11739404
         
    Find genes that share ontologies with RBBP8           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RBBP8:
     Decreased homologous recombina  Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rbbp8):
     cellular  embryogenesis  immune system  mortality/aging  tumorigenesis 

    Find genes that share phenotypes with RBBP8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rbbp8tm1Whl for RBBP8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBBP8
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBBP8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBBP8

    miRNA
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    miRTarBase miRNAs that target RBBP8:
    hsa-mir-375 (MIRT019821)

    Block miRNA regulation of human, mouse, rat RBBP8 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidRBBP8 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): RBBP8 (NM_002894)
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    (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
    COM1_HUMAN, Q99708: Nucleus. Note=Associates with sites of DNA damage in S/G2 phase. Ubiquitinated RBBP8 binds
    to chromatin following DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0017053transcriptional repressor complex IDA16287852

    Find genes that share ontologies with RBBP8           About GenesLikeMe


    (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 RBBP8 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Meiosis (REACTOME)
    Meiosis0.74
    Meiotic Recombination0.74
    2Cell Cycle / Checkpoint Control
    DNA Damage0.32
    3Notch signaling pathway (Pathway Interaction Database)
    Notch signaling pathway
    4Notch-mediated HES/HEY network
    Notch-mediated HES/HEY network
    5E2F transcription factor network
    E2F transcription factor network


    Find genes that share SuperPaths with RBBP8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RBBP8
        BRCA1 Pathway

    1 Cell Signaling Technology (CST) Pathway for RBBP8
        DNA Damage

    4 BioSystems Pathways for RBBP8
        E2F transcription factor network
    BARD1 signaling events
    Notch signaling pathway
    Notch-mediated HES/HEY network

    1 Reactome Pathway for RBBP8
        Meiotic recombination


        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBBP8: 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBBP8

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

    Selected Interacting proteins for RBBP8 (Q997081, 2, 3 ENSP000003230504) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AATFQ9NY612, 3, ENSP000002254024MINT-49961 MINT-49958 MINT-49957 I2D: score=1 STRING: ENSP00000225402
    RBL2Q089992, 3, ENSP000002621334MINT-16160 MINT-16159 I2D: score=3 STRING: ENSP00000262133
    BRCA1P383981, 3, ENSP000003502834EBI-745715,EBI-349905 I2D: score=4 STRING: ENSP00000350283
    FXR2P511162, 3, ENSP000002501134MINT-67681 I2D: score=3 STRING: ENSP00000250113
    LIMS1P480592, 3, ENSP000003317754MINT-66712 I2D: score=3 STRING: ENSP00000331775
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS10764811
    GO:0000082G1/S transition of mitotic cell cycle IEA--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA16287852
    GO:0000724double-strand break repair via homologous recombination IDA--
    GO:0000737DNA catabolic process, endonucleolytic IMP18716619

    Find genes that share ontologies with RBBP8           About GenesLikeMe



    (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 RBBP8 (COM1)

    1 Novoseek inferred chemical compound relationship for RBBP8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononucleotide 61.2 1 11429044 (1)



    Find genes that share compounds with RBBP8           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RBBP8 gene (3 alternative transcripts): 
    NM_002894.2  NM_203291.1  NM_203292.1  

    Unigene Cluster for RBBP8:

    Retinoblastoma binding protein 8
    Hs.546282  [show with all ESTs]
    Unigene Representative Sequence: NM_002894
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583700 ENST00000579124 ENST00000577588 ENST00000582354 ENST00000581819
    ENST00000327155(uc002ktw.3 uc002kua.3 uc010xap.2) ENST00000399722(uc002kty.3)
    ENST00000399725(uc002ktz.3) ENST00000399721(uc002ktx.1) ENST00000583594
    ENST00000360790 ENST00000580892 ENST00000577445 ENST00000585177 ENST00000583057
    ENST00000581687
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    Additional mRNA sequence: 

    AF043431.1 AK292481.1 BC001170.1 BC030590.1 BX648221.1 U72066.1 

    14 DOTS entries:

    DT.40110885  DT.97801054  DT.95070973  DT.100786190  DT.100786187  DT.91747826  DT.99975159  DT.100786189 
    DT.121102569  DT.95070978  DT.91780243  DT.95070970  DT.121102587  DT.91748341 

    Selected AceView cDNA sequences (see all 144):

    AA639365 AL121284 NM_203291 AL710887 CB217112 AA588525 BU153752 AA172171 
    BU165419 BQ008527 AI815630 CA397322 CB134403 BQ949160 NM_203292 BU688695 
    R72771 BC001170 NM_002894 AA669460 AA872648 CB134400 AU134404 AI143190 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RBBP8 (see all 7)    About this scheme

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

    ExUns: 20 ^ 21a · 21b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for RBBP8

    (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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    RBBP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RBBP8 Expression
    About this image

    RBBP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBBP8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.546282
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBBP8: 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway 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 chordates.

    Orthologs for RBBP8 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbbp81 , 5 retinoblastoma binding protein 81, 5 84.08(n)1
    76.79(a)1
      18 (5.85 cM)5
    2251821  NM_001081223.21  NP_001074692.11 
     116332765 
    chicken
    (Gallus gallus)
    Aves RBBP81 retinoblastoma binding protein 8 66.52(n)
    59.34(a)
      421071  XM_419158.3  XP_419158.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBBP86
    retinoblastoma binding protein 8
    52(a)
    1 ↔ 1
    4(38458446-38504376)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.74402 Transcribed sequence with moderate similarity to protein more 77.4(n)    AL960934.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.218992 Transcribed sequence with moderate similarity to protein more 73.74(n)    57052693 


    ENSEMBL Gene Tree for RBBP8 (if available)
    TreeFam Gene Tree for RBBP8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBBP8 gene
    RBBP8NL2  

    Find genes that share paralogs with RBBP8           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for RBBP8
    PGOHUM00000242477 PGOHUM00000248550 PGOHUM00000263337


    (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 RBBP8 (see all 1948)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214343881,2
    C,Fother120567588(+) GTATCA/GAAAGT 6 K E mis11Minor allele frequency- G:0.00NA 3816
    rs1411879261,2
    --20506167(+) GTAGAC/TACAAT 1 -- us2k10--------
    rs1910675251,2
    --20506306(+) TCTGAA/CTACTA 1 -- us2k10--------
    rs1825819451,2
    --20506570(+) TTCAAA/CTTTTT 3 -- us2k10--------
    rs72406461,2
    A--20506663(+) aagaaA/Gtaaca 3 -- us2k1 tfbs30--------
    rs743842661,2
    C,F--20506718(+) TTACAT/CGTTTA 3 -- us2k11Minor allele frequency- C:0.12WA 118
    rs1420243371,2
    --20506725(+) TTTAGC/TAAGTA 3 -- us2k10--------
    rs72390661,2
    C,F,A,H--20506743(+) ACTGCG/ATGATG 3 -- us2k120Minor allele frequency- A:0.19NS EA NA WA CSA 1973
    rs1849180571,2
    C--20506927(+) ATACTA/CTGTTA 3 -- us2k10--------
    rs1146434761,2
    C,F--20507022(+) TTACAT/CAGTCA 3 -- us2k11Minor allele frequency- C:0.05WA 118

    HapMap Linkage Disequilibrium report for RBBP8 (20378224 - 20606451 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RBBP8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659320CNV Deletion23128226
    nsv131399CNV Insertion16902084
    esv1450571CNV Insertion17803354
    esv259466OTHER Complex20981092
    esv259813OTHER Complex20981092

    Human Gene Mutation Database (HGMD): RBBP8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBBP8
    DNA2.0 Custom Variant and Variant Library Synthesis for RBBP8

    (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.)
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    OMIM gene information: 604124   
    OMIM disorders: 606744  251255  
    UniProtKB/Swiss-Prot: COM1_HUMAN, Q99708
  • Seckel syndrome 2 (SCKL2) [MIM:606744]: A rare autosomal recessive disorder characterized by
    proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe
    microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Jawad syndrome (JWDS) [MIM:251255]: A syndrome characterized by congenital microcephaly, moderately
    severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree include
    hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers,
    polydactyly and synpolydactyly. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Note=Genetic variability in RBBP8 is noted as a factor in BRCA1-associated breast cancer risk. Exhibits
    sensitivity to tamoxifen in certain breast cancer cell lines

  • 7 diseases for RBBP8:    
    About MalaCards
    jawad syndrome    seckel syndrome type 2    pancreatic carcinoma, somatic    seckel syndrome
    seckel syndrome type 8    retinoblastoma    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders


    Find genes that share disorders with RBBP8           About GenesLikeMe

    5 Novoseek inferred disease relationships for RBBP8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 45.1 1 14562366 (1)
    microsatellite instability 36.5 1 11429044 (1)
    breast cancer 29.1 24 18171986 (8), 15473135 (1), 19744932 (1)
    tumors 17.8 5 9811458 (2), 10764811 (1), 12957814 (1), 16101277 (1)
    cancer 8.21 2 12414815 (1), 12957814 (1)

    Genetic Association Database (GAD): RBBP8
    Human Genome Epidemiology (HuGE) Navigator: RBBP8 (7 documents)

    Export disorders for RBBP8 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 RBBP8 gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with RBBP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human CtIP promotes DNA end resection. (PubMed id 17965729)1, 2, 3, 9 Sartori A.A.... Jackson S.P. (Nature 2007)
    2. Molecular cloning and characterization of a novel retinoblastoma- binding protein. (PubMed id 9721205)1, 2, 3, 9 Fusco C.... Zervos A.S. (Genomics 1998)
    3. CtIP mutations cause Seckel and Jawad syndromes. (PubMed id 21998596)1, 2, 3 Jackson S.P. and Borglum A.D. (PLoS Genet. 2011)
    4. Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PubMed id 19270026)1, 2, 4 Quaye L.... Gayther S.A. (Hum. Mol. Genet. 2009)
    5. Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor. (PubMed id 10764811)1, 2, 9 Yu X. and Baer R. (J. Biol. Chem. 2000)
    6. SIAH-1 interacts with CtIP and promotes its degradation by the proteasome pathway. (PubMed id 14654780)1, 2, 9 Germani A....Bruzzoni-Giovanelli H. (Oncogene 2003)
    7. BRCA1 ubiquitinates its phosphorylation-dependent binding partner CtIP. (PubMed id 16818604)1, 2, 9 Yu X.... Chen J. (Genes Dev. 2006)
    8. Dimerization of CtIP, a BRCA1- and CtBP-interacting protein, is mediated by an N-terminal coiled-coil motif. (PubMed id 15084581)1, 2, 9 Dubin M.J....Matthews J.M. (J. Biol. Chem. 2004)
    9. DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains. (PubMed id 15485915)1, 2, 9 Yu X. and Chen J. (Mol. Cell. Biol. 2004)
    10. Interaction between a cellular protein that binds to the C-terminal region of adenovirus E1A (CtBP) and a novel cellular protein is disrupted by E1A through a conserved PLDLS motif. (PubMed id 9535825)1, 2, 9 Schaeper U.... Chinnadurai G. (J. Biol. Chem. 1998)

    (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: 5932 HGNC: 9891 AceView: RBBP8 Ensembl:ENSG00000101773 euGenes: HUgn5932
    ECgene: RBBP8 H-InvDB: RBBP8

    (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 RBBP8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBBP8 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 RBBP8 gene:
    Search GeneIP for patents involving RBBP8

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



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