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Rbbp8 Gene Detail
Summary
  • Symbol
    Rbbp8
  • Name
    retinoblastoma binding protein 8
  • Synonyms
    9930104E21Rik, CtIP
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442995
    NCBI Gene: 225182
  • Gene Overview
    MyGene.info: RBBP8
Location & Maps
more
  • Sequence Map
    Chr18:11633276-11743207 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      109932 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 5.85 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RBBP8, RB binding protein 8, endonuclease
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RBBP8, RB binding protein 8, endonuclease
    Orthology source: HomoloGene, HGNC
  • Synonyms
    COM1, CTIP, JWDS, RIM, SAE2, SCKL2
  • Links
    NCBI Gene ID: 5932
    neXtProt AC: NX_Q99708

  • Chr Location
    18q11.2; chr18:22914121-23026488 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human RBBP8 associations

Human Disease Mouse Models
       Jawad Syndrome; JWDS   OMIM: 251255
Seckel Syndrome 2; SCKL2   OMIM: 606744
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 4 alleles in 3 genetic backgrounds
    6 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.
Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomasof both B and T cells.
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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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 225182 NCBI Gene Model | MGI Sequence Detail 109932 C57BL/6J ±  kb
transcript NM_001081223 RefSeq | MGI Sequence Detail 3618 C57BL/6  
polypeptide Q80YR6 UniProt | EBI | MGI Sequence Detail 893 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    497 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 56
    cDNA 56

    Microarray probesets 4
References
more
  • Summaries
    All 32
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 6
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:219278 Badie S, et al., BRCA1 and CtIP promote alternative non-homologous end-joining at uncapped telomeres. EMBO J. 2015 Feb 3;34(3):410-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory