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RBPJ Gene

protein-coding   GIFtS: 65
GCID: GC04P026165

Recombination Signal Binding Protein For Immunoglobulin...

(Previous name: recombining binding protein suppressor of hairless (Drosophila))
(Previous symbols: IGKJRB1, RBPSUH)
  See RBPJ-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
Recombination Signal Binding Protein For Immunoglobulin Kappa J
Region1 2
     Recombining Binding Protein Suppressor Of Hairless (Drosophila)1
IGKJRB11 2 3 5     Suppressor Of Hairless Homolog (Drosophila)1
RBPSUH1 2 3 5     CBF12
Renal Carcinoma Antigen NY-REN-302 3     KBF22
CBF-12 3     SUH2
IGKJRB2 3     csl2
RBP-J2 3     H-2K Binding Factor-22
RBP-JK2 3     Immunoglobulin Kappa J Region Recombination Signal Binding Protein 12
RBPJK2 3     Recombining Binding Protein Suppressor Of Hairless2
RBP-J Kappa2 3     Suppressor Of Hairless Homolog2
AOS32 5     J Kappa-Recombination Signal-Binding Protein3

External Ids:    HGNC: 57241   Entrez Gene: 35162   Ensembl: ENSG000001682147   OMIM: 1471835   UniProtKB: Q063303   

Export aliases for RBPJ gene to outside databases

Previous GC identifers: GC04P025930 GC04P026321 GC04P025659


(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 RBPJ Gene:
The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The
encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch
proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase
or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different
isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. (provided by
RefSeq, Oct 2013)

GeneCards Summary for RBPJ Gene:
RBPJ (recombination signal binding protein for immunoglobulin kappa J region) is a protein-coding gene. Diseases associated with RBPJ include adams-oliver syndrome 3, and adams-oliver syndrome 4. GO annotations related to this gene include protein N-terminus binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RBPJL.

UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
Function: Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in
cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional
repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins
(Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target
genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes
containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the
immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA

Gene Wiki entry for RBPJ 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_000004.11  NT_006316.17  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBPJ gene promoter:
         AP-1   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBPJ promoter sequence
   Search Chromatin IP Primers for RBPJ

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


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

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P026165:  view genomic region     (about GC identifiers)

Start:
26,165,077 bp from pter      End:
26,436,541 bp from pter
Size:
271,465 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: SUH_HUMAN, Q06330 (See protein sequence)
Recommended Name: Recombining binding protein suppressor of hairless  
Size: 500 amino acids; 55637 Da
Subunit: Interacts with activated NOTCH1, NOTCH2 or NOTCH3. Interacts with MINT/SHARP. This interaction may
mediate the recruitment of large corepressor complexes containing proteins such as HDAC1, HDAC2, NCOR2, SAP30,
FHL1/KYOT2 and CIR1. Interacts with EP300, MAML1 and PTF1A. Interacts with Epstein-Barr virus EBNA2, EBNA3, EBNA4
and EBNA6. Interacts with RITA1/C12orf52, leading to nuclear export, prevent the interaction between RBPJ and
NICD product and subsequent down-regulation of the Notch signaling pathway. Interacts with SNW1
Caution: Despite some similarity with the "phage" integrase family, it has no recombinase activity
Sequence caution: Sequence=AAA16254.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for RBPJ:
2F8X (3D)        3NBN (3D)        3V79 (3D)    
Secondary accessions: B4DY22 Q5XKH9 Q6P1N3
Alternative splicing: 7 isoforms:  Q06330-1   Q06330-2   Q06330-3   Q06330-4   Q06330-5   Q06330-6   Q06330-7   

Explore the universe of human proteins at neXtProt for RBPJ: NX_Q06330

Explore proteomics data for RBPJ at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_005340.2  NP_056958.3  NP_976028.1  NP_976029.1  

    ENSEMBL proteins: 
     ENSP00000424789   ENSP00000427170   ENSP00000425750   ENSP00000423644   ENSP00000305815  
     ENSP00000354528   ENSP00000424989   ENSP00000339699   ENSP00000424804   ENSP00000427344  
     ENSP00000426872   ENSP00000423907   ENSP00000425061   ENSP00000422617   ENSP00000423575  
     ENSP00000423406   ENSP00000422838   ENSP00000423703   ENSP00000340124   ENSP00000424459  
     ENSP00000421804   ENSP00000345206   ENSP00000347659  
    Reactome Protein details: Q06330

    RBPJ Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals RBPJ Proteins
    Novus Biologicals RBPJ Lysates
    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBPJ

     
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    RBPJ Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RBPJ
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    Search for Antibodies for RBPJ at Abcam
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    ThermoFisher Antibodies for RBPJ
    LSBio Antibodies in human, mouse, rat for RBPJ

    RBPJ Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for RBPJ
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RBPJ
    Cloud-Clone Corp. CLIAs for RBPJ
    Search eBioscience for ELISAs for RBPJ 


    (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):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT
     IPR013783 Ig-like_fold
     IPR015350 Beta-trefoil_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q06330

    ProtoNet protein and cluster: Q06330

    1 Blocks protein domain: IPB002909 Cell surface receptor IPT/TIG

    UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
    Similarity: Belongs to the Su(H) family
    Similarity: Contains 1 IPT/TIG domain


    Find genes that share domains with RBPJ           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: SUH_HUMAN, Q06330
    Function: Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in
    cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional
    repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins
    (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target
    genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes
    containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the
    immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000150recombinase activity NAS8406481
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IEA--
    GO:0000982RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA18663143
         
    Find genes that share ontologies with RBPJ           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rbpj) (see all 19):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  pigmentation 

    Find genes that share phenotypes with RBPJ           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RBPJ: Rbpjtm1Rsch Rbpjtm1.1Rsch Rbpjtm1Kyo Rbpjtm1.1Hon

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

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  HTTTCCCASG 

    miRNA
    Products:
        
    miRTarBase miRNAs that target RBPJ:
    hsa-mir-375 (MIRT019785), hsa-mir-18a-5p (MIRT050652), hsa-let-7b-5p (MIRT052218), hsa-mir-155-5p (MIRT020670), hsa-mir-124-3p (MIRT022527)

    Block miRNA regulation of human, mouse, rat RBPJ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBPJ (see all 19):
    hsa-miR-320a hsa-miR-502-5p hsa-miR-300 hsa-miR-548m hsa-miR-133a hsa-miR-548x hsa-miR-497* hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidRBPJ 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RBPJ
    Predesigned siRNA for gene silencing in human, mouse, rat RBPJ

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

    Clone
    Products:
         
    OriGene clones in human, mouse for RBPJ (see all 21)
    OriGene ORF clones in mouse, rat for RBPJ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): RBPJ (NM_005349)
    Sino Biological Human cDNA Clone for RBPJ
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBPJ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBPJ

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RBPJ 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBPJ


    (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
    SUH_HUMAN, Q06330: Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates
    to the cytoplasm, down-regulating the Notch signaling pathway
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002193MAML1-RBP-Jkappa- ICN1 complex IDA16510869
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005730nucleolus IDA9874765

    Find genes that share ontologies with RBPJ           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 RBPJ About   (see all 19)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    3Pre-NOTCH Expression and Processing
    Pre-NOTCH Expression and Processing0.62
    Notch-HLH transcription pathway0.00
    Pre-NOTCH Transcription and Translation0.62
    4Signaling by NOTCH2
    Signaling by NOTCH20.67
    NOTCH2 intracellular domain regulates transcription0.00
    5Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells0.00


    Find genes that share SuperPaths with RBPJ           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RBPJ
        Notch Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RBPJ
        Notch Signaling
    Molecular Mechanisms of Cancer
    Presenilin-Mediated Signaling

    1 Cell Signaling Technology (CST) Pathway for RBPJ
        Wnt / Hedgehog / Notch

    2 GeneGo (Thomson Reuters) Pathways for RBPJ
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway

    Selected BioSystems Pathways for RBPJ (see all 6)
        Notch Signaling Pathway
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    Presenilin action in Notch and Wnt signaling
    Notch signaling pathway


    Selected Reactome Pathways for RBPJ (see all 7)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Pre-NOTCH Transcription and Translation
    Notch-HLH transcription pathway
    NOTCH2 intracellular domain regulates transcription


    3 Kegg Pathways  (Kegg details for RBPJ):
        Notch signaling pathway
    Epstein-Barr virus infection
    Viral carcinogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBPJ: 
              Notch Signaling Targets in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBPJ

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

    Selected Interacting proteins for RBPJ (Q063301, 2, 3 ENSP000003452064) via UniProtKB, MINT, STRING, and/or I2D (see all 299)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RITAQ96K301, 2, 3EBI-632552,EBI-2836148 MINT-8094354 MINT-8150964 MINT-8094859 MINT-8094949 MINT-8094378 MINT-8094611 MINT-8150902 MINT-8094668 I2D: score=1 
    RITA1Q96K301, 2, 3EBI-632552,EBI-2836148 MINT-8094354 MINT-8150964 MINT-8094859 MINT-8094949 MINT-8094378 MINT-8094611 MINT-8150902 MINT-8094668 I2D: score=1 
    ATXN1LP0C7T51, 2, 3, ENSP000004158224EBI-632552,EBI-8624731 MINT-8184026 MINT-8184039 MINT-8176981 MINT-8184086 MINT-8177079 MINT-8177094 MINT-8177040 MINT-8184067 I2D: score=1 STRING: ENSP00000415822
    ATXN1P542531, 2, 3, ENSP000002447694EBI-632552,EBI-930964 MINT-8184026 MINT-8184108 MINT-8177067 MINT-8176981 MINT-8184086 MINT-8177094 MINT-8177029 I2D: score=1 STRING: ENSP00000244769
    NCOR2Q9Y6181, 2, 3, ENSP000003485514EBI-632552,EBI-80830 MINT-8184039 MINT-8177067 MINT-8176981 MINT-8177079 MINT-8177051 I2D: score=4 STRING: ENSP00000348551
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001525angiogenesis ISS--
    GO:0001837epithelial to mesenchymal transition ISS--
    GO:0001974blood vessel remodeling IEA--
    GO:0002437inflammatory response to antigenic stimulus IEA--

    Find genes that share ontologies with RBPJ           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)
    About This Section

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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 RBPJ (SUH)

    1 Novoseek inferred chemical compound relationship for RBPJ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 0 6 17513037 (4), 10524257 (1), 11400158 (1)



    Find genes that share compounds with RBPJ           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 RBPJ gene (4 alternative transcripts): 
    NM_005349.3  NM_015874.4  NM_203283.2  NM_203284.2  

    Unigene Cluster for RBPJ:

    Recombination signal binding protein for immunoglobulin kappa J region
    Hs.479396  [show with all ESTs]
    Unigene Representative Sequence: NM_203284
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000512351 ENST00000510778 ENST00000506956 ENST00000512671 ENST00000345843
    ENST00000361572 ENST00000514380(uc011bxt.2) ENST00000514807 ENST00000348160
    ENST00000509158 ENST00000513182 ENST00000511401 ENST00000515023 ENST00000505958
    ENST00000507561 ENST00000514730 ENST00000507574 ENST00000514675
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RBPJ (see all 19):
    hsa-miR-320a hsa-miR-502-5p hsa-miR-300 hsa-miR-548m hsa-miR-133a hsa-miR-548x hsa-miR-497* hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidRBPJ 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RBPJ
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBPJ
    Primer
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    OriGene qPCR primer pairs and template standards for RBPJ
    OriGene qSTAR qPCR primer pairs in human, mouse for RBPJ
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RBPJ
      QuantiTect SYBR Green Assays in human, mouse, rat RBPJ
      QuantiFast Probe-based Assays in human, mouse, rat RBPJ

    Additional mRNA sequence: 

    AF086058.1 AK302230.1 AK303244.1 AK311419.1 BC020780.1 BC053531.1 BC053568.1 BC064976.1 
    L07872.1 L07875.1 L07876.1 Z36843.1 

    Selected DOTS entries (see all 28):

    DT.92451307  DT.95082334  DT.97858369  DT.95370169  DT.448389  DT.92451297  DT.95240069  DT.92451305 
    DT.92451316  DT.121235652  DT.121235589  DT.92451318  DT.121235642  DT.92451322  DT.121235700  DT.312014 
    DT.121235607  DT.101981926  DT.75140379  DT.92025306  DT.95361706  DT.100797618  DT.121235597  DT.121235640 

    Selected AceView cDNA sequences (see all 476):

    BQ023404 AA235124 BM928037 CR624016 AA774037 AA302729 CR625719 AA333081 
    AA449514 BQ648139 AI969652 AW341925 AL544062 BM834981 AL598618 AI742172 
    AI312813 AA234950 BM668328 AI342041 CR603040 CR623063 F33435 BE884239 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RBPJ (see all 11)    About this scheme

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

    ExUns: 18
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for RBPJ

    (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)
    About This Section

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


    RBPJ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)
             Endocardial Cells Endocardium
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    RBPJ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBPJ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479396
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBPJ: 
              Notch Signaling Targets in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBPJ

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for RBPJ gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbpj1 , 5 recombination signal binding protein for immunoglobulin more1, 5 90.83(n)1
    98.97(a)1
      5 (29.37 cM)5
    196641  NM_001080927.21  NP_001074396.11 
     535902155 
    chicken
    (Gallus gallus)
    Aves RBPJ1 recombination signal binding protein for immunoglobulin more 87.26(n)
    97.41(a)
      422802  XM_004936135.1  XP_004936192.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBPJ6
    recombination signal binding protein for immunoglo...
    90(a)
    1 ↔ 1
    GL343348.1(515614-569488)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.29072 Xenopus laevis suppressor of hairless protein 1 (XSu(H)1) more 83.69(n)    U60093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbpsuh2 recombining binding protein suppressor of hairless more 79.43(n)   386772  AY128532.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Su(H)1 Suppressor of Hairless 66.81(n)
    79.87(a)
      34881  NM_057520.3  NP_476868.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lag-11 lag-1 60.14(n)
    61.35(a)
      177373  NM_001028107.3  NP_001023278.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBPJ gene
    RBPJL2  
    2 SIMAP similar genes for RBPJ using alignment to 18 protein entries:     SUH_HUMAN (see all proteins):
    KBF2    RBPJL

    Find genes that share paralogs with RBPJ           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for RBPJ
    PGOHUM00000236070 PGOHUM00000236517 PGOHUM00000236531 PGOHUM00000236564 PGOHUM00000236571


    (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 RBPJ (see all 2248)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0689304
    Adams-Oliver syndrome 3 (AOS3)4--see VAR_0689302 K E mis40--------
    VAR_0689294
    Adams-Oliver syndrome 3 (AOS3)4--see VAR_0689292 E G mis40--------
    rs780084581,2
    C--25663018(+) ATATAC/TACACA 4 -- int11Minor allele frequency- T:0.50WA 2
    rs38863761,2
    C--25663020(-) TGTGTA/GTGTAT 4 -- int12Minor allele frequency- G:0.25NA 4
    rs797330141,2
    --25663022(+) ACACAC/TACACA 4 -- int10--------
    rs345811321,2
    C--25684104(+) TTTTGG/TGACGG 4 -- int11Minor allele frequency- T:0.50NA 2
    rs791395891,2
    C--25726607(+) TTTTTC/TCCAGG 4 -- int11Minor allele frequency- T:0.00NA 2
    rs105359281,2
    C--25738020(+) GATAT-/TGTGTGT 4 -- int11Minor allele frequency- TG:0.00NA 2
    rs112883881,2
    C,F--25743179(+) ATGGAT/-TTTTT 4 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs1405403491,2
    --26260345(+) CAATAC/GGATTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBPJ (26165077 - 26415077 bp, first 250kb of RBPJ)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RBPJ:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829889CNV Loss17160897

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

    (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

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    OMIM gene information: 147183   
    OMIM disorders: 614814  
    UniProtKB/Swiss-Prot: SUH_HUMAN, Q06330
  • Adams-Oliver syndrome 3 (AOS3) [MIM:614814]: An autosomal dominant form of Adams-Oliver syndrome, a
    disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse
    limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases,
    it is present on the posterior parietal region where it is often associated with an underlying defect of the
    parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire
    digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also
    affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be
    observed. The clinical features are highly variable and can also include cardiovascular malformations, brain
    abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest
    characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other
    associated defects, or immune defects. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 5 diseases for RBPJ:    
    About MalaCards
    adams-oliver syndrome 3    adams-oliver syndrome 4    adams-oliver syndrome 1    candida glabrata
    oliver syndrome

    2 diseases from the University of Copenhagen DISEASES database for RBPJ:
    Kaposi's sarcoma     Cadasil

    Find genes that share disorders with RBPJ           About GenesLikeMe

    2 Novoseek inferred disease relationships for RBPJ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 4.24 1 17284587 (1)
    tumors 0 1 18096813 (1)

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

    Export disorders for RBPJ 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

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    PubMed articles for RBPJ gene, integrated from 10 sources (see all 209):
    (articles sorted by number of sources associating them with RBPJ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue. (PubMed id 8406481)1, 2, 3 Amakawa R.... Honjo T. (Genomics 1993)
    2. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PubMed id 16530044)1, 2, 9 Nam Y.... Blacklow S.C. (Cell 2006)
    3. Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization. (PubMed id 9290259)1, 3, 9 Tang X.... Yokoyama K.K. (Jpn. J. Hum. Genet. 1997)
    4. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. (PubMed id 22883147)1, 2 Hassed S.J.... Gaffney P.M. (Am. J. Hum. Genet. 2012)
    5. A SILAC-based screen for Methyl-CpG binding proteins identifies RBP-J as a DNA methylation and sequence-specific binding protein. (PubMed id 21991380)1, 2 Bartels S.J....Stunnenberg H.G. (PLoS ONE 2011)
    6. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    7. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (Nat. Genet. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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)
    About This Section

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    Entrez Gene: 3516 HGNC: 5724 AceView: RBPSUH Ensembl:ENSG00000168214 euGenes: HUgn3516
    ECgene: RBPJ Kegg: 3516 H-InvDB: RBPJ

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for RBPJ Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RBPJ gene:
    Search GeneIP for patents involving RBPJ

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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