CTCF Gene Summary [Human]

This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Details

Type
Protein Coding
Official Symbol
CTCF
Official Name
CCCTC-binding factor [Source:HGNC Symbol;Acc:HGNC:13723]
Ensembl ID
ENSG00000102974
Bio databases IDs NCBI: 10664 Ensembl: ENSG00000102974
Aliases CCCTC-binding factor, 11 zinc finger transcriptional repressor
Synonyms CCCTC-binding factor, CFAP108, FAP108, MRD21, Transcription Repressor
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CTCF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Zinc finger, C2H2 type
  • transcription regulator
  • nucleic acid binding
  • C2H2-type zinc-finger domain
  • transcription factor binding
  • chromatin binding
  • protein binding
  • sequence-specific DNA binding
  • DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
  • zinc ion binding
  • double-stranded DNA binding
  • Zinc-finger double domain
  • zinc finger domain
  • transcription factor activity
  • RNA-binding domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • precursor B-cell acute lymphoblastic leukemia
  • non-insulin-dependent diabetes mellitus
  • cancer
  • neoplasia
  • COVID-19
  • liver cancer
  • epithelial cancer
  • central nervous system cancer
  • mature T-cell neoplasia
  • T-cell non-Hodgkin disease
regulated by
role in cell
  • expression in
  • invasion by
  • migration
  • differentiation
  • apoptosis
  • proliferation
  • adipogenesis
  • transactivation in
  • growth
  • transcription in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • cell surface
  • granular components
  • dense fibrillar component
  • chromosome
  • nucleoplasm
  • nucleoli
  • centromeres

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CTCF gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of cell proliferation
  • chromosome segregation
  • hypermethylation of CpG island
  • positive regulation of transcription from RNA polymerase II promoter
  • regulation of gene expression, epigenetic
  • negative regulation of transcription from RNA polymerase II promoter
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • positive regulation of gene expression
  • genetic imprinting
  • protein localization to chromosome, centromeric region
  • regulation of centromeric sister chromatid cohesion

Cellular Component

Where in the cell the gene product is active
  • condensed chromosome
  • nucleus
  • nucleolus
  • chromosome, centromeric region
  • male germ cell nucleus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • transcription cofactor binding
  • zinc ion binding
  • sequence-specific DNA binding transcription factor activity
  • protein binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • chromatin insulator sequence binding
  • transcription regulatory region sequence-specific DNA binding
  • sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.