CTCF
CTCF (Transcriptional repressor CTCF) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Breast cancer, Head and neck squamous cell carcinoma and 4 more.
Overview
Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin. Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina. Defines the boundaries between active and heterochromatic DNA via binding to chromatin insulators, thereby preventing interaction between promoter and nearby enhancers and silencers.
CIViC holds 3 clinical evidence items and 0 assertions across 3 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.91). IntOGen calls it a driver in 8 cohorts (0 activating, 8 loss-of-function), covering Acute Lymphoblastic Leukaemia, Invasive Breast Carcinoma, Head and Neck Squamous Cell Carcinoma, Endometrial Carcinoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · CTCF (Transcriptional repressor CTCF) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Breast cancer, Head and neck squamous cell carcinoma and 4 more.
- 1 · What it is
CTCF (Transcriptional repressor CTCF) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Breast cancer, Head and neck squamous cell carcinoma and 4 more.
- 2 · What goes wrong in cancer
Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin. Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina.
- 3 · How drugs use it
No product in this corpus aims at CTCF yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:13723 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P49711 (protein name, function text, keywords and locations (REST API)); CIViC gene CTCF (3 evidence items, 0 assertions, 3 variants; diseases: (GraphQL API, CC0)); Open Targets ENSG00000102974 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.52, endometrial cancer 0.59, acute lymphoblastic leukaemia 0.51, non-Hodgkin lymphoma 0.53, breast cancer 0.53, leukaemia 0.56 (GraphQL API, CC0)); IntOGen CTCF (driver in 8 cohorts (Act 0, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin. Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina. Defines the boundaries between active and heterochromatic DNA via binding to chromatin insulators, thereby preventing interaction between promoter and nearby enhancers and silencers. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Location: Nucleus, nucleoplasm; Chromosome; Chromosome, centromere (UniProt). Locus 16q22.1 (HGNC).
- Endometrial cancer: Open Targets association 0.59 with endometrial cancer (MONDO_0011962); IntOGen driver in 3 cohorts (UCEC)
- Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254); IntOGen driver in 3 cohorts (BRCA)
- Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)
- Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)
- Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)
- Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts; CIViC holds 3 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"CTCF" OR ABSTRACT:"CTCF" OR TITLE:"CCCTC-binding factor" OR ABSTRACT:"CCCTC-binding factor" OR TITLE:"Transcriptional repressor CTCF" OR ABSTRACT:"Transcriptional repressor CTCF" OR TITLE:"FAP108" OR ABSTRACT:"FAP108" OR TITLE:"CFAP108" OR ABSTRACT:"CFAP108") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about CTCF, not a curated reading list.
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