About   Help   FAQ
Rbbp8 Gene Detail
Summary
  • Symbol
    Rbbp8
  • Name
    retinoblastoma binding protein 8, endonuclease
  • Synonyms
    9930104E21Rik, CtIP
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442995
    NCBI Gene: 225182
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:11766333-11876264 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 5.85 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3047 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442995
 protein coding gene Chr18:11766333-11878278 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024153
 protein coding gene Chr18:8752823-8860196 (+)
A/J MGP_AJ_G0024115
 protein coding gene Chr18:8625971-8730232 (+)
AKR/J MGP_AKRJ_G0024082
 protein coding gene Chr18:8878957-8991407 (+)
BALB/cJ MGP_BALBcJ_G0024114
 protein coding gene Chr18:8577527-8685377 (+)
C3H/HeJ MGP_C3HHeJ_G0023881
 protein coding gene Chr18:8753965-8869202 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024559
 protein coding gene Chr18:9239391-9352870 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021998
 protein coding gene Chr18:8238679-8349294 (+)
CAST/EiJ MGP_CASTEiJ_G0023358
 protein coding gene Chr18:8646307-8747532 (+)
CBA/J MGP_CBAJ_G0023853
 protein coding gene Chr18:9357694-9473047 (+)
DBA/2J MGP_DBA2J_G0023982
 protein coding gene Chr18:8485971-8591412 (+)
FVB/NJ MGP_FVBNJ_G0023947
 protein coding gene Chr18:8341167-8445247 (+)
LP/J MGP_LPJ_G0024065
 protein coding gene Chr18:8840985-8957385 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023976
 protein coding gene Chr18:9526612-9662005 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024605
 protein coding gene Chr18:8647217-8770047 (+)
PWK/PhJ MGP_PWKPhJ_G0023104
 protein coding gene Chr18:8544565-8648805 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022913
 protein coding gene Chr18:8903712-9023675 (+)
WSB/EiJ MGP_WSBEiJ_G0023424
 protein coding gene Chr18:8659157-8771180 (+)



Homology
more
  • Human Ortholog
    RBBP8, RB binding protein 8, endonuclease
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RBBP8, RB binding protein 8, endonuclease
  • Synonyms
    COM1, CTIP, JAWAD, JWDS, RIM, SAE2, SCKL2
  • Links
    NCBI Gene ID: 5932
    neXtProt AC: NX_Q99708
    UniProt: Q99708

  • Chr Location
    18q11.2; chr18:22798261-23026488 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human RBBP8 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 4 alleles in 3 genetic backgrounds
    15 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
less
  • All GO Annotations
    35
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    709
  • Tissues
    1
  • cDNA Data
    57
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 57

      Microarray probesets 4
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 3
      Gene Ontology 12
      Phenotypes 15
    • 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:348335 Georgieva D, et al., BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks. Cell Rep. 2024 Apr 23;43(4):114006
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory