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Gene: RBPJ (recombination signal binding protein for immunoglobulin kappa J region) Homo sapiens
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Symbol: RBPJ
Name: recombination signal binding protein for immunoglobulin kappa J region
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II repressing transcription factor binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of transcription from RNA polymerase II promoter in response to hypoxia; and positive regulation of transcription of Notch receptor target. Localizes to several cellular components, including MAML1-RBP-Jkappa- ICN1 complex; nuclear lumen; and transcription repressor complex. Implicated in Adams-Oliver syndrome and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AOS3; CBF-1; CBF1; csl; H-2K binding factor-2; IGKJRB; IGKJRB1; immunoglobulin kappa J region recombination signal binding protein 1; j kappa-recombination signal-binding protein; KBF2; MGC61669; RBP-J; RBP-J kappa; RBP-JK; RBPJK; RBPSUH; recombining binding protein suppressor of hairless; recombining binding protein suppressor of hairless (drosophila); renal carcinoma antigen NY-REN-30; SUH; suppressor of hairless homolog
Orthologs:
Related Pseudogenes: RBPJP1   RBPJP2   RBPJP3   RBPJP4   RBPJP5   RBPJP6   RBPJP7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl426,163,455 - 26,435,131 (+)EnsemblGRCh38hg38GRCh38
GRCh38426,163,458 - 26,435,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37426,165,077 - 26,436,753 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36425,930,430 - 26,042,376 (+)NCBINCBI36hg18NCBI36
Celera426,771,681 - 26,884,040 (+)NCBI
Cytogenetic Map4p15.2NCBI
HuRef425,659,979 - 25,775,063 (+)NCBIHuRef
CHM1_1426,322,549 - 26,437,875 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on RBPJ
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1321529
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.