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Rbpj Gene Detail
Summary
  • Symbol
    Rbpj
  • Name
    recombination signal binding protein for immunoglobulin kappa J region
  • Synonyms
    CBF1, Igkjrb, Igkrsbp, RBPjk, RBP-J kappa, Rbpsuh
  • Feature Type
    protein coding gene
  • IDs
    MGI:96522
    NCBI Gene: 19664
  • Gene Overview
    MyGene.info: RBPJ
Location & Maps
more
  • Sequence Map
    Chr5:53466152-53657362 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      191211 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 29.37 cM, cytoband C1-C3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RBPJ, recombination signal binding protein for immunoglobulin kappa J region
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RBPJ, recombination signal binding protein for immunoglobulin kappa J region
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AOS3, CBF1, csl, IGKJRB, IGKJRB1, KBF2, RBP-J, RBPJK, RBPSUH, SUH
  • Links
    NCBI Gene ID: 3516
    neXtProt AC: NX_Q06330

  • Chr Location
    4p15.2; chr4:26163494-26435131 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7511
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: RBPJ
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human RBPJ associations

Human Disease Mouse Models
       Adams-Oliver Syndrome 3; AOS3   OMIM: 614814
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    101 phenotypes from 7 alleles in 16 genetic backgrounds
    21 phenotypes from multigenic genotypes
    240 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    537
  • Chemically induced (other)
    2
  • Gene trapped
    521
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    12
  • Genomic Mutations
    4 involving Rbpj
  • Incidental Mutations
Mice homozygous for a null allele exhibit complete prenatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054613 VEGA Gene Model | MGI Sequence Detail 191211 C57BL/6J ±  kb
transcript OTTMUST00000135387 VEGA | MGI Sequence Detail 5459 Not Applicable  
polypeptide OTTMUSP00000071650 VEGA | MGI Sequence Detail 526 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    928 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 37
    Genomic 2
    cDNA 25
    Primer pair 8
    Other 2

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-11327, MGI:2140979
References
more
  • Summaries
    All 310
    Developmental Gene Expression 56
    Gene Ontology 43
    Phenotypes 240
  • Earliest
    J:8644 Siminovitch KA, et al., The human kappa deleting element and the mouse recombining segment share DNA sequence homology. Nucleic Acids Res. 1987 Mar 25;15(6):2699-705
  • Latest
    J:230423 Su RW, et al., Aberrant activation of canonical Notch1 signaling in the mouse uterus decreases progesterone receptor by hypermethylation and leads to infertility. Proc Natl Acad Sci U S A. 2016 Feb 23;113(8):2300-5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory