RBPJ Gene (Protein Coding)

Recombination Signal Binding Protein For Immunoglobulin Kappa J Region

GC04P026165
GIFtS:
48
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 pat... See more...

Aliases for RBPJ Gene

Aliases for RBPJ Gene

  • Recombination Signal Binding Protein For Immunoglobulin Kappa J Region 2 3 5
  • Recombining Binding Protein Suppressor Of Hairless 3 4
  • 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
  • J Kappa-Recombination Signal-Binding Protein 4
  • Suppressor Of Hairless Homolog (Drosophila) 2
  • Suppressor Of Hairless Homolog 3
  • H-2K Binding Factor-2 3
  • AOS3 3
  • CBF1 3
  • KBF2 3
  • SUH 3
  • Csl 3

External Ids for RBPJ Gene

Previous HGNC Symbols for RBPJ Gene

  • IGKJRB1
  • RBPSUH

Previous GeneCards Identifiers for RBPJ Gene

  • GC04P025930
  • GC04P026321
  • GC04P025659

Summaries for RBPJ Gene

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. Among its related pathways are Developmental Biology and NOTCH2 Activation and Transmission of Signal to the Nucleus. 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 Summary 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 (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity).

Gene Wiki entry for RBPJ Gene

Additional gene information for RBPJ Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
GH04J026318 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.1 +157.8 157846 6.2 ZBTB40 SP1 ZBTB6 FOXA1 MLX SMARCE1 RBPJ POLR2A CTBP1 NR2F6 lnc-CCKAR-10 RBPJ ANAPC4 CCKAR HSALNG0033476
GH04J026362 Promoter/Enhancer 0.5 EPDnew dbSUPER 750.1 +199.0 198966 0.1 RBPJ lnc-CCKAR-10 HSALNG0033476
GH04J026162 Enhancer 0.3 Ensembl 750.6 -0.6 -554 0.2 CREB1 ATF2 RBPJ LOC105374541
GH04J026163 Promoter 0.3 EPDnew 750.6 0.0 -16 0.1 RBPJ LOC105374541
GH04J026164 Enhancer 0.2 Ensembl 750.6 +0.7 746 0.8 RBPJ piR-57176-493
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBPJ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBPJ gene promoter:
  • AP-1
  • MyoD

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)
Size:
271,465 bases
Orientation:
Plus strand

Genomic View for RBPJ Gene

Genes around RBPJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBPJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBPJ Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RBPJ Gene

Proteins for RBPJ Gene

Products:

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  • Protein details for RBPJ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06330-SUH_HUMAN
    Recommended name:
    Recombining binding protein suppressor of hairless
    Protein Accession:
    Q06330
    Secondary Accessions:
    • 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. Interacts with RBM15 (By similarity).
    SequenceCaution:
    • Sequence=AAA16254.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBPJ Gene

    Alternative splice isoforms for RBPJ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBPJ Gene

Protein Expression for RBPJ Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RBPJ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBPJ Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RBPJ
  • Boster Bio Antibodies for RBPJ
  • Santa Cruz Biotechnology (SCBT) Antibodies for RBPJ

No data available for DME Specific Peptides for RBPJ Gene

Domains & Families for RBPJ Gene

Gene Families for RBPJ Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for RBPJ Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBPJ Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50914, highly similar to Recombining binding protein suppressor of hairless (B4DY22_HUMAN)
  • H-2K binding factor-2 (Q14663_HUMAN)
  • Renal carcinoma antigen NY-REN-30 (SUH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06330

UniProtKB/Swiss-Prot:

SUH_HUMAN :
  • Belongs to the Su(H) family.
Family:
  • Belongs to the Su(H) family.
genes like me logo Genes that share domains with RBPJ: view

Function for RBPJ Gene

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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 (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity).

Phenotypes From GWAS Catalog for RBPJ Gene

Gene Ontology (GO) - Molecular Function for RBPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 16691198
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001103 RNA polymerase II repressing transcription factor binding IBA,IPI 16287852
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 18663143
GO:0003677 DNA binding TAS 9874765
genes like me logo Genes that share ontologies with RBPJ: view
genes like me logo Genes that share phenotypes with RBPJ: view

Human Phenotype Ontology for RBPJ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBPJ Gene

MGI Knock Outs for RBPJ:
  • Rbpj Rbpj<tm1Kyo>
  • Rbpj Rbpj<tm1.1Hon>
  • Rbpj Rbpj<tm1b(EUCOMM)Hmgu>
  • Rbpj Rbpj<tm1.1Rsch>

Animal Model Products

CRISPR Products

miRNA for RBPJ Gene

miRTarBase miRNAs that target RBPJ
Targeted motifs for RBPJ Gene
HOMER Transcription Factor Regulatory Elements motif RBPJ
  • Consensus sequence: HTTTCCCASG Submotif: canonical Cell Type: Panc1 GEO ID: GSE47459

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPJ

Clone Products

  • Addgene plasmids for RBPJ

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBPJ gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002193 MAML1-RBP-Jkappa- ICN1 complex IDA,IBA 16510869
GO:0005634 nucleus IBA,IDA 9874765
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA,IEA 21873635
GO:0005730 nucleolus IDA 9874765
genes like me logo Genes that share ontologies with RBPJ: view

Pathways & Interactions for RBPJ Gene

genes like me logo Genes that share pathways with RBPJ: view

Pathways by source for RBPJ Gene

1 Sino Biological pathway for RBPJ Gene
2 R&D Systems pathways for RBPJ Gene
3 Qiagen pathways for RBPJ Gene
  • Molecular Mechanisms of Cancer
  • Notch Signaling
  • Presenilin-Mediated Signaling
1 Cell Signaling Technology pathway for RBPJ Gene

SIGNOR curated interactions for RBPJ Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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 IEA,ISS --
GO:0001974 blood vessel remodeling IEA --
genes like me logo Genes that share ontologies with RBPJ: view

Drugs & Compounds for RBPJ Gene

Products:

  1. Drug

(1) Drugs for RBPJ Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RBPJ: view

Transcripts for RBPJ Gene

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  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for RBPJ Gene

(5) REFSEQ mRNAs :
(26) Additional mRNA sequences :
(476) Selected AceView cDNA sequences:
(31) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPJ

Clone Products

  • Addgene plasmids for RBPJ

Alternative Splicing Database (ASD) splice patterns (SP) for RBPJ Gene

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:

Relevant External Links for RBPJ Gene

GeneLoc Exon Structure for
RBPJ
ECgene alternative splicing isoforms for
RBPJ

Expression for RBPJ Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBPJ Gene

mRNA expression in normal human tissues for RBPJ Gene
mRNA expression by BioGPS for RBPJ GenemRNA expression by GTEx for RBPJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBPJ Gene

This gene is overexpressed in Breast (59.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBPJ Gene



Protein tissue co-expression partners for RBPJ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBPJ Gene:

RBPJ

SOURCE GeneReport for Unigene cluster for RBPJ Gene:

Hs.479396

Evidence 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(2.2)
  • Kidney(2.1)
  • Lymph node(2.1)

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
genes like me logo Genes that share expression patterns with RBPJ: view

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.

Orthologs for RBPJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RBPJ 33 32
  • 99.93 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia RBPJ 33
  • 98 (a)
 OneToOne
LOC479122 32
  • 94.18 (n)
oppossum
(Monodelphis domestica)
 Mammalia RBPJ 33
  • 97 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia RBPJ 33 32
  • 95.21 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RBPJ 33
  • 95 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rbpj 32
  • 91.76 (n)
mouse
(Mus musculus)
 Mammalia Rbpj 17 33 32
  • 90.83 (n)
chicken
(Gallus gallus)
 Aves RBPJ 33 32
  • 87.26 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia RBPJ 33
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100491789 32
  • 82.42 (n)
Str.10131 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.2907 32
zebrafish
(Danio rerio)
 Actinopterygii rbpjb 33 32
  • 78.71 (n)
 OneToOne
rbpsuh 32
fruit fly
(Drosophila melanogaster)
 Insecta Su(H) 33 32
  • 66.81 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008935 32
  • 63.36 (n)
worm
(Caenorhabditis elegans)
 Secernentea lag-1 33 32
  • 60.14 (n)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.11329 33
  • 65 (a)
 OneToOne
Cin.2779 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2779 32
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)

Evolution for RBPJ Gene

ENSEMBL:
Gene Tree for RBPJ (if available)
TreeFam:
Gene Tree for RBPJ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBPJ: view image

Paralogs for RBPJ Gene

Paralogs for RBPJ Gene

(2) SIMAP similar genes for RBPJ Gene using alignment to 18 proteins:

  • SUH_HUMAN
  • D6R927_HUMAN
  • D6R946_HUMAN
  • D6R9K5_HUMAN
  • D6R9X3_HUMAN
  • D6RA45_HUMAN
  • D6RAT2_HUMAN
  • D6RB37_HUMAN
  • D6RBQ8_HUMAN
  • D6RCM1_HUMAN
  • D6RE93_HUMAN
  • D6REC2_HUMAN
  • D6REP3_HUMAN
  • D6RF98_HUMAN
  • D6RIV8_HUMAN
  • D6RIZ8_HUMAN
  • H0Y8R3_HUMAN
  • L8E7S3_HUMAN

Pseudogenes.org Pseudogenes for RBPJ Gene

genes like me logo Genes that share paralogs with RBPJ: view

Variants for RBPJ Gene

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Sequence variations from dbSNP and Humsavar for RBPJ Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs114530054 benign, Diabetes mellitus type 2 26,222,167(+) C/T genic_upstream_transcript_variant, intron_variant
rs12639629 benign, Diabetes mellitus type 2 26,413,148(+) G/C intron_variant
rs12650452 benign, Diabetes mellitus type 2 26,401,045(+) C/T intron_variant
rs13144326 benign, Diabetes mellitus type 2 26,334,621(+) C/T genic_upstream_transcript_variant, intron_variant
rs1553878198 likely-pathogenic, Inborn genetic diseases 26,406,245(+) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RBPJ Gene

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

Variation tolerance for RBPJ Gene

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

Human Gene Mutation Database (HGMD)
RBPJ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBPJ

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBPJ Gene

Disorders for RBPJ Gene

MalaCards: The human disease database

(9) MalaCards diseases for RBPJ Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 3
  • aos3
adams-oliver syndrome
  • aos
oliver syndrome
  • postaxial polydactyly and mental retardation
enterobiasis
  • enterobius vermicularis infection
aplasia cutis congenita
  • congenital defect of skull and scalp
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with RBPJ: view

No data available for Genatlas for RBPJ Gene

Publications for RBPJ Gene

  1. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PMID: 16530044) Nam Y … Blacklow SC (Cell 2006) 3 4 23 56
  2. 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 23 56
  3. Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue. (PMID: 8406481) Amakawa R … Honjo T (Genomics 1993) 2 3 4 56
  4. 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 56
  5. 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 56

ExternalLinks

View latest publications for RBPJ gene in Mastermind

Products for RBPJ Gene

  • Addgene plasmids for RBPJ

Sources for RBPJ Gene