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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CTCF
CCCTC-binding factor
Chromosome 16 Β· 16q22.1
NCBI Gene: 10664Ensembl: ENSG00000102974.16HGNC: HGNC:13723UniProt: A0A2R8YFL0
465PubMed Papers
21Diseases
0Drugs
91Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingepigenetic regulation of gene expressionnegative regulation of DNA-templated transcriptionCTCF-related neurodevelopmental disorderIntellectual disabilitygenetic disorderendometrial cancer
✦AI Summary

CTCF is a sequence-specific chr16-binding factor that organizes three-dimensional genome architecture through its dual roles as a structural and regulatory protein. As a structural organizer, CTCF binds DNA at convergently-oriented motifs and works with cohesin to establish chr16 loops and topologically associating domains (TADs) 123. CTCF-cohesin interactions protect chr16 loops from dissolution, with cohesin extruding chr16 until encountering CTCF 23. As an insulator protein, CTCF defines boundaries between active and silent chr16 regions, preventing inappropriate enhancer-promoter contacts 1. CTCF preferentially binds unmethylated DNA and prevents CpG methylation spreading, maintaining methylation-free zones critical for gene regulation. Functionally, CTCF acts as both transcriptional repressor (e.g., MYC, BAG1) and activator (e.g., APP), with its activity regulated during cell differentiation through dynamic loop formation and dissolution 4. In erythropoiesis, CTCF maintains chr16 accessibility and gene expression networks essential for lineage specification 5. CTCF plays critical roles in genomic imprinting at IGF2/H19 and X-chromosome 16. Disease associations include autosomal dominant intellectual developmental disorder 21, and CTCF mutations are implicated in cancer through altered transcriptional programs 6.

Sources cited
1
CTCF marks loop anchors at domain boundaries in convergent orientation and is essential for chromatin looping
PMID: 25497547
2
Molecular mechanism of CTCF-cohesin interaction and how CTCF protects cohesin-mediated chromatin loops
PMID: 31905366
3
CTCF defines TAD boundaries; cohesin forms loops until encountering CTCF in a WAPL and PDS5-dependent manner
PMID: 29217591
4
CTCF maintains chromatin accessibility and erythroid gene expression networks; role in lineage specification
PMID: 40022213
5
CTCF loops dynamically form and disassemble during cell differentiation; new loop formation involves epigenetic changes and enhancer-promoter strengthening
PMID: 37813869
6
CTCF mutations found in cancers and contribute to altered oncogenic transcriptional programs
PMID: 32334335
Disease Associationsβ“˜21
CTCF-related neurodevelopmental disorderOpen Targets
0.79Strong
Intellectual disabilityOpen Targets
0.66Moderate
genetic disorderOpen Targets
0.54Moderate
endometrial cancerOpen Targets
0.48Moderate
acute lymphoblastic leukemiaOpen Targets
0.45Moderate
medulloblastomaOpen Targets
0.39Weak
syndromic intellectual disabilityOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
breast adenocarcinomaOpen Targets
0.36Weak
desmoplastic/nodular medulloblastomaOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.34Weak
acute megakaryoblastic leukemia in down syndromeOpen Targets
0.33Weak
head and neck squamous cell carcinomaOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.31Weak
Intellectual developmental disorder, autosomal dominant 21UniProt
Pathogenic Variants91
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln)Pathogenic
not provided|CTCF-related neurodevelopmental disorder|CTCF-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 448
NM_006565.4(CTCF):c.959G>A (p.Arg320His)Likely pathogenic
not provided|CTCF-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 320
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)Pathogenic
not provided|CTCF-related neurodevelopmental disorder|CTCF-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 342
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys)Pathogenic
CTCF-related neurodevelopmental disorder|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 368
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)Pathogenic
Inborn genetic diseases|CTCF-related neurodevelopmental disorder|Intellectual disability|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 206
NM_006565.4(CTCF):c.782-1G>CPathogenic
CTCF-related neurodevelopmental disorder|not provided|Melanoma
β˜…β˜…β˜†β˜†2025
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)Pathogenic
CTCF-related neurodevelopmental disorder|not provided|CTCF-related syndromic intellectual disability|Inborn genetic diseases|Intellectual disability
β˜…β˜…β˜†β˜†2024β†’ Residue 567
NM_006565.4(CTCF):c.610dup (p.Thr204fs)Pathogenic
not provided|Desmoplastic/nodular medulloblastoma|Alveolar rhabdomyosarcoma
β˜…β˜…β˜†β˜†2024β†’ Residue 204
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)Pathogenic
CTCF-related neurodevelopmental disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 378
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys)Pathogenic
not provided|CTCF-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 226
NM_006565.4(CTCF):c.1025G>A (p.Arg342His)Pathogenic
not provided|CTCF-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 342
NM_006565.4(CTCF):c.1670_1674del (p.Val556_Cys557insTer)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 556
NM_006565.4(CTCF):c.782-2A>GPathogenic
Inborn genetic diseases|CTCF-related neurodevelopmental disorder|not provided
β˜…β˜…β˜†β˜†2023
NM_006565.4(CTCF):c.1103G>A (p.Arg368His)Pathogenic
CTCF-related neurodevelopmental disorder|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 368
NM_006565.4(CTCF):c.950_951dup (p.Gly318fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 318
NM_006565.4(CTCF):c.778_781del (p.Lys260fs)Pathogenic
CTCF-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2020β†’ Residue 260
NM_006565.4(CTCF):c.848G>A (p.Arg283His)Likely pathogenic
CTCF-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2019β†’ Residue 283
NM_006565.4(CTCF):c.1129C>T (p.Arg377Cys)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 377
NM_006565.4(CTCF):c.952+1G>TLikely pathogenic
CTCF-related neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025
NM_006565.4(CTCF):c.1999+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
ZNF143Protein interaction100%SOX2Protein interaction100%H2AC20Protein interaction100%TP53Protein interaction100%H2AZ1Protein interaction100%CHD4Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
96%
Heart
57%
Ovary
54%
Lung
50%
Liver
43%
Gene Interaction Network
Click a node to explore
CTCFZNF143SOX2H2AC20TP53H2AZ1CHD4
PROTEIN STRUCTURE
Preparing viewer…
PDB5KKQ Β· 1.74 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.06–0.20]
RankingsWhere CTCF stands among ~20K protein-coding genes
  • #577of 20,598
    Most Researched465 Β· top 5%
  • #836of 5,498
    Most Pathogenic Variants91 Β· top quartile
  • #477of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedCTCF
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping.
PMID: 25497547
Cell Β· 2014
1.00
2
The structural basis for cohesin-CTCF-anchored loops.
PMID: 31905366
Nature Β· 2020
0.90
3
Topologically associating domains and chromatin loops depend on cohesin and are regulated by CTCF, WAPL, and PDS5 proteins.
PMID: 29217591
EMBO J Β· 2017
0.80
4
CTCF is selectively required for maintaining chromatin accessibility and gene expression in human erythropoiesis.
PMID: 40022213
Genome Biol Β· 2025
0.70
5
CTCF depletion decouples enhancer-mediated gene activation from chromatin hub formation.
PMID: 40360814
Nat Struct Mol Biol Β· 2025
0.64