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Ctcf Gene Detail
Summary
  • Symbol
    Ctcf
  • Name
    CCCTC-binding factor
  • Feature Type
    protein coding gene
  • IDs
    MGI:109447
    NCBI Gene: 13018
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:106363200-106409554 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    771 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109447
 protein coding gene Chr8:106351135-106409554 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034052
 protein coding gene Chr8:107935656-107983881 (+)
A/J MGP_AJ_G0034033
 protein coding gene Chr8:103621728-103669148 (+)
AKR/J MGP_AKRJ_G0033959
 protein coding gene Chr8:106621948-106670122 (+)
BALB/cJ MGP_BALBcJ_G0034026
 protein coding gene Chr8:103813285-103859658 (+)
C3H/HeJ MGP_C3HHeJ_G0033738
 protein coding gene Chr8:107362163-107410908 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034546
 protein coding gene Chr8:111900824-111951945 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031488
 protein coding gene Chr8:96757910-96806634 (+)
CAST/EiJ MGP_CASTEiJ_G0033064
 protein coding gene Chr8:106861016-106910671 (+)
CBA/J MGP_CBAJ_G0033711
 protein coding gene Chr8:115496375-115547151 (+)
DBA/2J MGP_DBA2J_G0033866
 protein coding gene Chr8:102970387-103016600 (+)
FVB/NJ MGP_FVBNJ_G0033812
 protein coding gene Chr8:101897586-101945397 (+)
LP/J MGP_LPJ_G0033957
 protein coding gene Chr8:108142244-108192927 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033855
 protein coding gene Chr8:118693622-118743563 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034564
 protein coding gene Chr8:106585717-106634048 (+)
PWK/PhJ MGP_PWKPhJ_G0032765
 protein coding gene Chr8:102358222-102406798 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032606
 protein coding gene Chr8:105267750-105314241 (+)
WSB/EiJ MGP_WSBEiJ_G0033180
 protein coding gene Chr8:107252357-107303677 (+)



Homology
more
  • Human Ortholog
    CTCF, CCCTC-binding factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CTCF, CCCTC-binding factor
  • Synonyms
    CFAP108, FAP108, MRD21
  • Links
    NCBI Gene ID: 10664
    neXtProt AC: NX_P49711
    UniProt: P49711

  • Chr Location
    16q22.1; chr16:67562467-67639185 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with human CTCF associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 4 alleles in 3 genetic backgrounds
    7 phenotypes from multigenic genotypes
    1 images
    65 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.
Mice homozygous for a null allele die prior to implantation. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells. Heterozygosity for the p.R567W mutation leads to thin body, while homozygosity affects heart, lung and neuronal development, leading to death shortly after birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    70
  • GO References
    25
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
membraneless 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
    1040
  • Tissues
    228
  • cDNA Data
    165
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005698 Ensembl Gene Model | MGI Sequence Detail 46355 C57BL/6J ±  kb
    transcript ENSMUST00000005841 Ensembl | MGI Sequence Detail 3782 Not Applicable  
    polypeptide ENSMUSP00000005841 Ensembl | MGI Sequence Detail 736 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 171
      cDNA 166
      Primer pair 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38492, MGI:2142760
    References
    more
    • Summaries
      All 188
      Developmental Gene Expression 21
      Gene Ontology 25
      Phenotypes 65
    • Earliest
      J:33964 Filippova GN, et al., An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes. Mol Cell Biol. 1996 Jun;16(6):2802-13
    • Latest
      J:350502 Zhang J, et al., CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Nat Commun. 2024 Jul 1;15(1):5524
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory