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

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)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Recombination Signal Binding Protein For Immunoglobulin Kappa J
Region1 2
     Suppressor Of Hairless Homolog (Drosophila)1
IGKJRB11 2 3 5     AOS32
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
Recombining Binding Protein Suppressor Of Hairless (Drosophila)1     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Also, this protein can bind specifically to the
recombination signal sequence of immunglobulin kappa type J segments. 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 2011)

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, and candida glabrata, and among its related super-pathways are Notch signaling pathway and Constitutive Signaling by NOTCH1 PEST Domain Mutants. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006316.16  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBPJ gene promoter:
         AP-1   MyoD   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 RITA/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
Subcellular location: Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates
to the cytoplasm, down-regulating the Notch signaling pathway
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q06330

  • RBPJ Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBPJ Protein Expression
    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
    Human Recombinant Protein Products for RBPJ: 
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    Novus Biologicals RBPJ Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBPJ 

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

    RBPJ for ontologies           About GeneDecksing



    RBPJ Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT_TIG_rcpt
     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


    RBPJ for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/14 molecular function terms (GO ID links to tree view) (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
         
    RBPJ for ontologies           About GeneDecksing


    Phenotypes:
         15/19 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  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  pigmentation 

    RBPJ for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RBPJ 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RBPJ

       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 

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    8/19 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RBPJ About   (see all 16)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    3NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    NICD traffics to nucleus0.32
    NOTCH2 intracellular domain regulates transcription0.38
    Notch-HLH transcription pathway0.32
    4Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development NOTCH1-mediated pathway for NF-KB activity modulation0.88
    Development Notch Signaling Pathway0.54
    5Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for RBPJ
        Development Notch Signaling Pathway
    Transcription factors in neurogenesis
    Development NOTCH1-mediated pathway for NF-KB activity modulation

    1 R&D Systems Pathway for RBPJ
        Notch Signaling Pathways


    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

    5/6 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


    5/19        Reactome Pathways for RBPJ (see all 19)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    FBXW7 Mutants and NOTCH1 in Cancer
    Notch-HLH transcription pathway
    Signaling by NOTCH1 HD Domain Mutants in Cancer


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


    RBPJ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBPJ

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

    5/86 Interacting proteins for RBPJ (Q063301, 2, 3 ENSP000003452064) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1LP0C7T52, 3, ENSP000004158224MINT-8184026 MINT-8184039 MINT-8176981 MINT-8184086 MINT-8177079 MINT-8177094 MINT-8177040 MINT-8184067 I2D: score=1 STRING: ENSP00000415822
    ATXN1P542532, 3, ENSP000002447694MINT-8184026 MINT-8184108 MINT-8177067 MINT-8176981 MINT-8184086 MINT-8177094 MINT-8177029 I2D: score=1 STRING: ENSP00000244769
    C12orf52Q96K302, 3MINT-8094354 MINT-8150964 MINT-8094859 MINT-8094949 MINT-8094378 MINT-8094611 MINT-8150902 MINT-8094668 I2D: score=1 
    SNW1Q135731, 3, ENSP000002615314EBI-632552,EBI-632715 I2D: score=3 STRING: ENSP00000261531
    MAML1Q925852, 3, ENSP000002925994MINT-8177109 I2D: score=2 STRING: ENSP00000292599
    About this table

    Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55):    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--

    RBPJ for ontologies           About GeneDecksing



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

    RBPJ for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about RBPJ / SUH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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
    18/31 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN 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 

    24/28 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 

    24/476 AceView cDNA sequences (see all 476):

    BQ646476 AA156663 AI280802 AA243566 AA774037 AA252175 BP871798 BM856890 
    AI332651 CR597051 CR612633 BM873539 CR625719 BM999365 BQ231520 AL138256 
    Z30299 AA782282 CA772159 BQ878366 AA242861 AA302728 BQ942635 AL700068 

    GeneLoc Exon Structure

    5/11 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™, 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

    RBPJ expression in normal human tissues (normalized intensities)      RBPJ embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Pancreatic Progenitor Cells Ventral Pancreatic Bud
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord Cells Notochord
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole

    See RBPJ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBPJ

    SOURCE GeneReport for Unigene cluster: Hs.479396
        SABiosciences Expression via Pathway-Focused 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

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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 animals.

    Orthologs for RBPJ gene from 7/17 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 90.6(n)1
    97.8(a)1
      5 (29.37 cM)5
    196641  NM_009035.41  NP_033061.31 
     535902155 
    chicken
    (Gallus gallus)
    Aves RBPJ1 recombination signal binding protein for immunoglobulin more 87.08(n)
    96.67(a)
      422802  XM_420752.3  XP_420752.2 
    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 65.38(n)
    77.78(a)
      34881  NM_057520.3  NP_476868.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lag-11 Protein LAG-1 59.95(n)
    61.89(a)
      177373  NM_171350.3  NP_741410.1 


    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)
    About This Section
    Paralogs for RBPJ gene
    RBPJL2  
    2 SIMAP similar genes for RBPJ using alignment to 18 protein entries:     SUH_HUMAN (see all proteins):
    KBF2    RBPJL

    RBPJ for paralogs           About GeneDecksing


    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) 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

    10/2248 SNPs in RBPJ are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147183    OMIM disorders: --

    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

  • 20/28 diseases for RBPJ (see all 28):    About MalaCards
    adams oliver syndrome    candida glabrata    oliver syndrome    aplasia cutis congenita
    cadasil    alagille syndrome    hepatopulmonary syndrome    mucoepidermoid carcinoma
    syndactyly    arteriosclerosis    kaposi's sarcoma    congenital heart defect
    sarcoma    liver disease    hypertension    lymphoblastic leukemia
    renal cell carcinoma    rheumatoid arthritis    gastric cancer    arthritis

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

    RBPJ for disorders           About GeneDecksing

    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

    PubMed articles for RBPJ gene, integrated from 9 sources (see all 205):
    (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. (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. (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. (1997)
    4. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. (PubMed id 22883147)1, 2 Hassed S.J.... Gaffney P.M. (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. (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. (2010)
    7. Genome-wide association study meta-analysis identifie s seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (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. (2010)
    9. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

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

    (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 RBPJ Pharmacogenomics, SNPs, Pathways

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



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    About This Section

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