Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RBPJ (recombination signal binding protein for immunoglobulin kappa J region)

Identity

Other namesAOS3
CBF1
IGKJRB
IGKJRB1
KBF2
RBP-J
RBPJK
RBPSUH
SUH
csl
HGNC (Hugo) RBPJ
LocusID (NCBI) 3516
Location 4p15.2
Location_base_pair Starts at 26321332 and ends at 26436752 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)RBPJ   5724
Cards
Entrez_Gene (NCBI)RBPJ  3516  recombination signal binding protein for immunoglobulin kappa J region
GeneCards (Weizmann)RBPJ
Ensembl (Hinxton)ENSG00000168214 [Gene_View]  chr4:26321332-26436752 [Contig_View]  RBPJ [Vega]
ICGC DataPortalENSG00000168214
cBioPortalRBPJ
AceView (NCBI)RBPJ
Genatlas (Paris)RBPJ
WikiGenes3516
SOURCE (Princeton)NM_005349 NM_015874 NM_203283 NM_203284
Genomic and cartography
GoldenPath (UCSC)RBPJ  -  4p15.2   chr4:26321332-26436752 +  4p15.2   [Description]    (hg19-Feb_2009)
EnsemblRBPJ - 4p15.2 [CytoView]
Mapping of homologs : NCBIRBPJ [Mapview]
OMIM147183   614814   
Gene and transcription
Genbank (Entrez)AF086058 AK056944 AK126357 AK302230 AK303244
RefSeq transcript (Entrez)NM_005349 NM_015874 NM_203283 NM_203284
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NG_030343 NT_006316 NW_001838900 NW_004929315
Consensus coding sequences : CCDS (NCBI)RBPJ
Cluster EST : UnigeneHs.479396 [ NCBI ]
CGAP (NCI)Hs.479396
Alternative Splicing : Fast-db (Paris)GSHG0022511
Alternative Splicing GalleryENSG00000168214
Gene ExpressionRBPJ [ NCBI-GEO ]     RBPJ [ SEEK ]   RBPJ [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06330 (Uniprot)
NextProtQ06330  [Medical]
With graphics : InterProQ06330
Splice isoforms : SwissVarQ06330 (Swissvar)
Domains : Interpro (EBI)Beta-trefoil_DNA-bd_dom [organisation]   Ig-like_fold [organisation]   Ig_E-set [organisation]   IPT [organisation]   LAG1_DNA-bd [organisation]   p53-like_TF_DNA-bd [organisation]  
Related proteins : CluSTrQ06330
Domain families : Pfam (Sanger)BTD (PF09270)    LAG1-DNAbind (PF09271)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam09270    pfam09271    pfam01833   
DMDM Disease mutations3516
Blocks (Seattle)Q06330
PDB (SRS)2F8X    3NBN    3V79   
PDB (PDBSum)2F8X    3NBN    3V79   
PDB (IMB)2F8X    3NBN    3V79   
PDB (RSDB)2F8X    3NBN    3V79   
Human Protein AtlasENSG00000168214 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ06330
HPRD00920
IPIIPI00030177   IPI00218576   IPI00218578   IPI00419892   IPI00807402   IPI00402156   IPI00332627   IPI00964584   IPI00965640   IPI00967935   IPI00965892   IPI00967749   IPI00965320   IPI00965067   IPI00967482   IPI00966420   IPI00967428   IPI00967164   IPI00966695   IPI00964314   IPI00966121   IPI00963974   IPI00968226   IPI00479716   
Protein Interaction databases
DIP (DOE-UCLA)Q06330
IntAct (EBI)Q06330
FunCoupENSG00000168214
BioGRIDRBPJ
InParanoidQ06330
Interologous Interaction database Q06330
IntegromeDBRBPJ
STRING (EMBL)RBPJ
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  recombinase activity  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  RNA polymerase II repressing transcription factor binding  angiogenesis  epithelial to mesenchymal transition  blood vessel remodeling  MAML1-RBP-Jkappa- ICN1 complex  inflammatory response to antigenic stimulus  outflow tract morphogenesis  endocardium morphogenesis  epithelial to mesenchymal transition involved in endocardial cushion formation  cardiac left ventricle morphogenesis  ventricular trabecula myocardium morphogenesis  regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation  DNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  DNA recombination  transcription initiation from RNA polymerase II promoter  humoral immune response  Notch signaling pathway  Notch signaling pathway  positive regulation of transcription of Notch receptor target  negative regulation of cell proliferation  auditory receptor cell fate commitment  epidermal cell fate specification  gene expression  pituitary gland development  B cell differentiation  keratinocyte differentiation  negative regulation of ossification  positive regulation of BMP signaling pathway  somatic stem cell maintenance  dorsal aorta morphogenesis  atrioventricular canal development  defense response to bacterium  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  regulation of timing of cell differentiation  sebaceous gland development  hair follicle maturation  positive regulation of cardiac muscle cell proliferation  Clara cell differentiation  labyrinthine layer blood vessel development  arterial endothelial cell fate commitment  Notch signaling involved in heart development  blood vessel lumenization  interleukin-4 secretion  blood vessel endothelial cell fate specification  positive regulation of ERBB signaling pathway  positive regulation of ephrin receptor signaling pathway  positive regulation of cell proliferation involved in heart morphogenesis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  recombinase activity  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  RNA polymerase II repressing transcription factor binding  angiogenesis  epithelial to mesenchymal transition  blood vessel remodeling  MAML1-RBP-Jkappa- ICN1 complex  inflammatory response to antigenic stimulus  outflow tract morphogenesis  endocardium morphogenesis  epithelial to mesenchymal transition involved in endocardial cushion formation  cardiac left ventricle morphogenesis  ventricular trabecula myocardium morphogenesis  regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation  DNA binding  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  DNA recombination  transcription initiation from RNA polymerase II promoter  humoral immune response  Notch signaling pathway  Notch signaling pathway  positive regulation of transcription of Notch receptor target  negative regulation of cell proliferation  auditory receptor cell fate commitment  epidermal cell fate specification  gene expression  pituitary gland development  B cell differentiation  keratinocyte differentiation  negative regulation of ossification  positive regulation of BMP signaling pathway  somatic stem cell maintenance  dorsal aorta morphogenesis  atrioventricular canal development  defense response to bacterium  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  regulation of timing of cell differentiation  sebaceous gland development  hair follicle maturation  positive regulation of cardiac muscle cell proliferation  Clara cell differentiation  labyrinthine layer blood vessel development  arterial endothelial cell fate commitment  Notch signaling involved in heart development  blood vessel lumenization  interleukin-4 secretion  blood vessel endothelial cell fate specification  positive regulation of ERBB signaling pathway  positive regulation of ephrin receptor signaling pathway  positive regulation of cell proliferation involved in heart morphogenesis  
Pathways : BIOCARTAPresenilin action in Notch and Wnt signaling [Genes]    Segmentation Clock [Genes]    Proteolysis and Signaling of Notch [Genes]   
Pathways : KEGGNotch signaling pathway    Epstein-Barr virus infection    Viral carcinogenesis   
Protein Interaction DatabaseRBPJ
Wikipedia pathwaysRBPJ
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RBPJ
snp3D : Map Gene to Disease3516
SNP (GeneSNP Utah)RBPJ
SNP : HGBaseRBPJ
Genetic variants : HAPMAPRBPJ
Exome VariantRBPJ
1000_GenomesRBPJ 
ICGC programENSG00000168214 
Somatic Mutations in Cancer : COSMICRBPJ 
CONAN: Copy Number AnalysisRBPJ 
Mutations and Diseases : HGMDRBPJ
Mutations and Diseases : intOGenRBPJ
Genomic VariantsRBPJ  RBPJ [DGVbeta]
dbVarRBPJ
ClinVarRBPJ
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM147183    614814   
MedgenRBPJ
GENETestsRBPJ
Disease Genetic AssociationRBPJ
Huge Navigator RBPJ [HugePedia]  RBPJ [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneRBPJ
Homology/Alignments : Family Browser (UCSC)RBPJ
Phylogenetic Trees/Animal Genes : TreeFamRBPJ
Chemical/Protein Interactions : CTD3516
Chemical/Pharm GKB GenePA34292
Clinical trialRBPJ
Cancer Resource (Charite)ENSG00000168214
Other databases
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
CoreMineRBPJ
iHOPRBPJ
OncoSearchRBPJ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:14:36 CEST 2014

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