Aliases for RBPJ Gene
Aliases for RBPJ Gene
- Recombination Signal Binding Protein For Immunoglobulin Kappa J Region 2 3 5
- Renal Carcinoma Antigen NY-REN-30 3 4
- RBP-J Kappa 3 4
- IGKJRB1 3 4
- RBPSUH 3 4
- IGKJRB 3 4
- RBP-JK 3 4
- CBF-1 3 4
- RBP-J 3 4
- RBPJK 3 4
- Immunoglobulin Kappa J Region Recombination Signal Binding Protein 1 3
- Recombining Binding Protein Suppressor Of Hairless (Drosophila) 2
External Ids for RBPJ Gene
- HGNC: 5724
- Entrez Gene: 3516
- Ensembl: ENSG00000168214
- OMIM: 147183
- UniProtKB: Q06330
Previous HGNC Symbols for RBPJ Gene
- IGKJRB1
- RBPSUH
Previous GeneCards Identifiers for RBPJ Gene
- GC04P025930
- GC04P026321
- GC04P025659
Summaries 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. Among its related pathways are Signaling by NOTCH1 and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is RBPJL.
UniProtKB/Swiss-Prot for RBPJ Gene
-
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. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).
Additional gene information for RBPJ Gene
- Monarch Initiative
- Search for RBPJ at DataMed
- Search for RBPJ at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBPJ Gene
Genomics for RBPJ Gene
GeneHancer (GH) Regulatory Elements for RBPJ Gene
Promoters and enhancers for RBPJ Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04I026318 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 550.1 | +157.9 | 157921 | 6 | PKNOX1 FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 | RBPJ CCKAR LOC105374542 GC04P026432 | |
| GH04I026073 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 21.6 | -87.6 | -87640 | 3.7 | BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 ETV6 FOS BCLAF1 | RBPJ LINC02357 LOC645481 | |
| GH04I026217 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 22.2 | +55.0 | 54952 | 2.4 | MAX EBF1 BATF IRF4 NFATC1 ATF7 IKZF2 RUNX3 CHD2 ZNF687 | RBPJ LOC105374545 GC04P026244 | |
| GH04I026131 | Enhancer | 1 | FANTOM5 ENCODE | 17.6 | -31.5 | -31462 | 1.4 | PKNOX1 EBF1 BATF KLF5 IRF4 RELA NFATC1 ATF7 ETV6 BCLAF1 | RBPJ TBC1D19 LOC645481 LOC105374541 | |
| GH04I026085 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 10.9 | -76.0 | -76014 | 4 | BACH1 EBF1 BMI1 BATF RELA POLR2A NFATC1 ATF7 RCOR1 ETV6 | RBPJ LINC02357 LOC645481 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RBPJ on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RBPJ gene promoter:
Regulatory Element Products
Genomic Locations for RBPJ Gene
Genomic Locations for RBPJ Gene
- chr4:26,163,455-26,435,131
- (GRCh38/hg38)
- Size:
- 271,677 bases
- Orientation:
- Plus strand
- chr4:26,165,077-26,436,541
- (GRCh37/hg19)
Genomic View for RBPJ Gene
Genes around RBPJ on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p15.2 by Ensembl
- 4p15.2 by Entrez Gene
- 4p15.2 by HGNC
RBPJ Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RBPJ Gene
Proteins for RBPJ Gene
-
Protein details for RBPJ Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q06330-SUH_HUMAN
- Recommended name:
- Recombining binding protein suppressor of hairless
- Protein Accession:
- Q06330
- B4DY22
- Q5XKH9
- Q6P1N3
Protein attributes for RBPJ Gene
- Size:
- 500 amino acids
- Molecular mass:
- 55637 Da
- Quaternary structure:
-
- 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. Interacts with CHCHD2 and CXXC5 (PubMed:23303788). Interacts with BEND6 (via BEN domain). Interacts with NKAPL (By similarity). Interacts with ZMIZ1.
- SequenceCaution:
-
- Sequence=AAA16254.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for RBPJ Gene
Post-translational modifications for RBPJ Gene
Other Protein References for RBPJ Gene
- ENSEMBL proteins:
-
- ENSP00000305815
- ENSP00000339699
- ENSP00000340124
- ENSP00000347659
- ENSP00000354528
- ENSP00000421804
- ENSP00000422617
- ENSP00000422838
- ENSP00000423406
- ENSP00000423575
- ENSP00000423644
- ENSP00000423703
- ENSP00000423907
- ENSP00000424459
- ENSP00000424789
- ENSP00000424804
- ENSP00000424989
- ENSP00000425061
- ENSP00000425750
- ENSP00000426872
- ENSP00000427170
- ENSP00000427344
- ENSP00000345206
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for RBPJ (CSL)
- Novus Biologicals Antibodies for RBPJ
-
Abcam antibodies for RBPJ
- Invitrogen Antibodies for RBPJ
- GeneTex RBPJ antibody for RBPJ
-
Santa Cruz Biotechnology (SCBT) Antibodies for RBPJ
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RBPJ
- Origene Custom Protein Services for RBPJ
- Search GeneTex for Proteins for RBPJ
-
Abcam proteins for RBPJ
Assay Products
- antibodies-online: Search results for available RBPJ related products ranked by validation data
No data available for DME Specific Peptides for RBPJ Gene
Domains & Families for RBPJ Gene
Gene Families for RBPJ Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for RBPJ Gene
Suggested Antigen Peptide Sequences for RBPJ Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q06330- Family:
-
- Belongs to the Su(H) family.
Function for RBPJ Gene
Molecular function for RBPJ Gene
- UniProtKB/Swiss-Prot 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. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788).
Phenotypes From GWAS Catalog for RBPJ Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000150 | recombinase activity | NAS | 8406481 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 16691198 |
| GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IEA | -- |
| GO:0000982 | transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 18663143 |
Phenotypes for RBPJ Gene
- MGI mutant phenotypes for RBPJ:
-
inferred from 7 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- GenomeRNAi human phenotypes for RBPJ:
Animal Models for RBPJ Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RBPJ
-
-
ViGene Biosciences lentiviral particle packaged cDNA for RBPJ gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RBPJ gene
- Search ViGene Biosciences for RBPJ
CRISPR Products
-
OriGene CRISPR knockouts for RBPJ
- genomics-online: gRNA clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
- Applied Biological Materials CRISPR for RBPJ
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBPJ
- GenScript: Design CRISPR guide RNA sequences for RBPJ
miRNA for RBPJ Gene
- miRTarBase miRNAs that target RBPJ
-
- hsa-mir-375 (MIRT019785)
- hsa-mir-155-5p (MIRT020670)
- hsa-mir-124-3p (MIRT022527)
- hsa-mir-18a-5p (MIRT050652)
- hsa-let-7b-5p (MIRT052218)
- hsa-mir-15a-5p (MIRT212604)
- hsa-mir-16-5p (MIRT212605)
- hsa-mir-32-3p (MIRT212606)
- hsa-mir-15b-5p (MIRT212608)
- hsa-mir-195-5p (MIRT212610)
- hsa-mir-424-5p (MIRT212611)
- hsa-mir-497-5p (MIRT212612)
- hsa-mir-545-3p (MIRT212613)
- hsa-mir-3609 (MIRT212615)
- hsa-mir-548ah-5p (MIRT212617)
- hsa-mir-3064-3p (MIRT212618)
- hsa-mir-6838-5p (MIRT212619)
- hsa-mir-6077 (MIRT309928)
- hsa-mir-4468 (MIRT309949)
- hsa-mir-193b-5p (MIRT356390)
- hsa-mir-561-3p (MIRT356391)
- hsa-mir-619-3p (MIRT356392)
- hsa-mir-4774-5p (MIRT356396)
- hsa-mir-5585-3p (MIRT356398)
- hsa-mir-6765-3p (MIRT356400)
- hsa-mir-490-3p (MIRT356402)
- hsa-mir-548d-3p (MIRT356403)
- hsa-mir-548h-3p (MIRT356404)
- hsa-mir-548z (MIRT356407)
- hsa-mir-548ac (MIRT356409)
- hsa-mir-548bb-3p (MIRT356416)
- hsa-mir-218-5p (MIRT439796)
- hsa-mir-8061 (MIRT492451)
- hsa-mir-4760-5p (MIRT492452)
- hsa-mir-4715-3p (MIRT492453)
- hsa-mir-532-5p (MIRT492454)
- hsa-mir-3923 (MIRT492455)
- hsa-mir-302f (MIRT492456)
- hsa-mir-186-5p (MIRT492457)
- hsa-mir-3133 (MIRT492458)
- hsa-mir-7-5p (MIRT561670)
- hsa-mir-4446-5p (MIRT566102)
- hsa-mir-6814-5p (MIRT566103)
- hsa-mir-3622b-3p (MIRT566104)
- hsa-mir-3622a-3p (MIRT566105)
- gga-mir-21-5p (MIRT731297)
- hsa-mir-133a-3p (MIRT734973)
- hsa-mir-153-5p (MIRT737887)
- hsa-mir-1910-3p (MIRT738435)
- hsa-mir-208a-5p (MIRT738858)
- hsa-mir-208b-5p (MIRT738864)
- hsa-mir-2467-3p (MIRT739295)
- hsa-mir-25-3p (MIRT739367)
- hsa-mir-3140-3p (MIRT740182)
- hsa-mir-320a (MIRT741194)
- hsa-mir-320b (MIRT741198)
- hsa-mir-320c (MIRT741202)
- hsa-mir-320d (MIRT741206)
- hsa-mir-32-5p (MIRT741260)
- hsa-mir-363-3p (MIRT741812)
- hsa-mir-367-3p (MIRT742128)
- hsa-mir-3680-3p (MIRT742189)
- hsa-mir-3714 (MIRT742568)
- hsa-mir-4429 (MIRT744318)
- hsa-mir-450b-5p (MIRT745600)
- hsa-mir-4708-3p (MIRT747361)
- hsa-mir-4742-5p (MIRT748140)
- hsa-mir-507 (MIRT749605)
- hsa-mir-557 (MIRT750922)
- hsa-mir-6511a-5p (MIRT753160)
- hsa-mir-6511b-5p (MIRT753207)
- hsa-mir-6809-5p (MIRT756635)
- hsa-mir-6811-5p (MIRT756694)
- hsa-mir-92a-3p (MIRT760630)
- hsa-mir-92b-3p (MIRT760658)
- hsa-mir-9-3p (MIRT760788)
- hsa-mir-2681-5p (MIRT784346)
- hsa-mir-4318 (MIRT785751)
- hsa-mir-4474-3p (MIRT785962)
- hsa-mir-4693-5p (MIRT786426)
- hsa-mir-6815-3p (MIRT788913)
- hsa-mir-892a (MIRT789922)
Targeted motifs for RBPJ Gene
HOMER Transcription Factor Regulatory Elements motif RBPJ
- Consensus sequence: HTTTCCCASG Submotif: canonical Cell Type: Panc1 GEO ID: GSE47459
miRNA Products
- Search ViGene Biosciences for RBPJ
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBPJ
- Browse OriGene Inhibitory RNA Products For RBPJ
- genomics-online: shRNA clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RBPJ gene
Clone Products
- Sino Biological Human cDNA Clone for RBPJ
- VectorBuilder custom plasmid, inducible vectors for RBPJ
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBPJ
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RBPJ
- Applied Biological Materials Clones for RBPJ
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RBPJ
-
ViGene Biosciences adenoviral particle packaged cDNA for RBPJ gene
-
ViGene Biosciences lentiviral particle packaged cDNA for RBPJ gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RBPJ gene
No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for RBPJ Gene
Localization for RBPJ Gene
Subcellular locations from UniProtKB/Swiss-Prot for RBPJ Gene
- Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002193 | MAML1-RBP-Jkappa- ICN1 complex | IDA | 16510869 |
| GO:0005634 | nucleus | IDA | 9874765 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0005730 | nucleolus | IDA | 9874765 |
Pathways & Interactions for RBPJ Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | Notch signaling pathway (KEGG) |
.30
|
|
| 3 | Pre-NOTCH Expression and Processing | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Gene Expression |
.48
|
|
Pathways by source for RBPJ Gene
1 Sino Biological pathway for RBPJ Gene
7 BioSystems pathways for RBPJ Gene
21 Reactome pathways for RBPJ Gene
5 KEGG pathways for RBPJ Gene
2 GeneGo (Thomson Reuters) pathways for RBPJ Gene
2 R&D Systems pathways for RBPJ Gene
3 Qiagen pathways for RBPJ Gene
1 Cell Signaling Technology pathway for RBPJ Gene
Interacting Proteins for RBPJ Gene
Selected Interacting proteins:
ENSP00000345206
Q06330-SUH_HUMAN
for RBPJ Gene via
STRING
MINT
IID
UniProtKB
SIGNOR curated interactions for RBPJ Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0001525 | angiogenesis | IEA,ISS | -- |
| GO:0001756 | somitogenesis | IEA | -- |
| GO:0001837 | epithelial to mesenchymal transition | ISS,IEA | -- |
| GO:0001974 | blood vessel remodeling | IEA | -- |
Transcripts for RBPJ Gene
mRNA/cDNA for RBPJ Gene
- (12) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (476) Selected AceView cDNA sequences:
- (31) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RBPJ Gene
CRISPR Products
-
OriGene CRISPR knockouts for RBPJ
- genomics-online: gRNA clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
- Applied Biological Materials CRISPR for RBPJ
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBPJ
- GenScript: Design CRISPR guide RNA sequences for RBPJ
miRNA Products
- Search ViGene Biosciences for RBPJ
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBPJ
- Browse OriGene Inhibitory RNA Products For RBPJ
- genomics-online: shRNA clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RBPJ gene
Clone Products
- Sino Biological Human cDNA Clone for RBPJ
- VectorBuilder custom plasmid, inducible vectors for RBPJ
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBPJ
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RBPJ
- Applied Biological Materials Clones for RBPJ
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 18 |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: | |
| SP9: | |
| SP10: | |
| SP11: |
Expression for RBPJ Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Juxtaglomerular Cells Afferent Arteriole
- Interstitial Stroma Cells Interstitial Stroma
-
Heart (Cardiovascular System)
- Endocardial Cells Endocardium
-
Smooth Muscle (Muscoskeletal System)
- Juxtaglomerular Cells Afferent Arteriole
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Epithelial Cells
- Acinar Progenitor Cells Dorsal Pancreatic Bud
-
Pancreas (Endocrine System)
- Acinar Progenitor Cells Dorsal Pancreatic Bud
This gene is overexpressed in Breast (59.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBPJ Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RBPJ Gene:
RBPJSOURCE GeneReport for Unigene cluster for RBPJ Gene:
Hs.479396Evidence on tissue expression from TISSUES for RBPJ Gene
- Nervous system(4.6)
- Eye(4.5)
- Lung(3.1)
- Liver(2.8)
- Blood(2.7)
- Bone marrow(2.5)
- Muscle(2.5)
- Spleen(2.5)
- Heart(2.4)
- Skin(2.3)
- Intestine(2.1)
- Kidney(2.1)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RBPJ Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- outer ear
- scalp
- skull
Thorax:
- aorta
- breast
- chest wall
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for RBPJ
-
OriGene qPCR primer pairs for RBPJ
- genomics-online: primer clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBPJ Gene
Orthologs for RBPJ Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RBPJ 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | RBPJ 34 |
|
OneToOne | |
| LOC479122 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | RBPJ 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RBPJ 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | RBPJ 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Rbpj 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Rbpj 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | RBPJ 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RBPJ 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100491789 33 |
|
||
| Str.10131 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2907 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rbpjb 33 34 |
|
||
| rbpsuh 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Su(H) 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008935 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | lag-1 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.11329 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2779 33 |
|
- Species where no ortholog for RBPJ was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for RBPJ Gene
(2) SIMAP similar genes for RBPJ Gene using alignment to 18 proteins:
Pseudogenes.org Pseudogenes for RBPJ Gene
Variants for RBPJ Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs387907270 | pathogenic, Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 (AOS3) [MIM:614814] | 26,406,264(+) | A/G | coding_sequence_variant, missense_variant | |
| rs387907271 | pathogenic, Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 (AOS3) [MIM:614814] | 26,420,695(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1000028229 | -- | 26,294,604(+) | G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000028510 | -- | 26,428,913(+) | C/T | intron_variant | |
| rs1000039268 | -- | 26,373,146(+) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1073315 | CNV | deletion | 25765185 |
| nsv1141985 | OTHER | inversion | 24896259 |
| nsv829889 | CNV | loss | 17160897 |
| nsv950561 | CNV | duplication | 24416366 |
| nsv950562 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.01;
20.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RBPJ Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBPJ Gene
Disorders for RBPJ Gene
(8) MalaCards diseases for RBPJ Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adams-oliver syndrome 3 |
|
|
| adams-oliver syndrome |
|
|
| oliver syndrome |
|
|
| enterobiasis |
|
|
| aplasia cutis congenita |
|
|
Search RBPJ in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SUH_HUMAN- 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. {ECO:0000269 PubMed:22883147}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RBPJ
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RBPJ Gene
Publications for RBPJ Gene
- Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PMID: 16530044) Nam Y … Blacklow SC (Cell 2006) 3 4 22 58
- Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization. (PMID: 9290259) Tang X … Yokoyama KK (The Japanese journal of human genetics 1997) 2 3 22 58
- Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue. (PMID: 8406481) Amakawa R … Honjo T (Genomics 1993) 2 3 4 58
- The PIAS-like Coactivator Zmiz1 Is a Direct and Selective Cofactor of Notch1 in T Cell Development and Leukemia. (PMID: 26522984) Pinnell N … Chiang MY (Immunity 2015) 3 4 58
- Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. (PMID: 23303788) Aras S … Grossman LI (Nucleic acids research 2013) 3 4 58
Products for RBPJ Gene
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for RBPJ
- VectorBuilder custom plasmid, inducible vectors for RBPJ
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBPJ
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RBPJ
- antibodies-online: Search results for 87 available RBPJ Antibodies ranked by validation data
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- GeneTex RBPJ antibody for RBPJ
- Search GeneTex for Proteins for RBPJ
- ViGene Biosciences adenoviral particle packaged cDNA for RBPJ gene
- ViGene Biosciences lentiviral particle packaged cDNA for RBPJ gene
- ViGene Biosciences ready-to-package AAV shRNAs for RBPJ gene
- Search ViGene Biosciences for RBPJ
- Santa Cruz Biotechnology (SCBT) Antibodies for RBPJ
- Search Santa Cruz Biotechnology (SCBT) for RBPJ siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RBPJ
- Horizon Cell Lines for RBPJ
- genomics-online: cdna clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
- orf clones - Search results for 183 available RBPJ gene related products
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- genomics-online: gRNA clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
- genomics-online: primer clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
- genomics-online: shRNA clones - Search results for 183 available RBPJ gene related products
- Overview of 183 available RBPJ gene related products
Sources for RBPJ Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems