CTCF
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| CCCTC-binding factor | MIM:604167 | Ensembl:ENSG00000102974 | HGNC:HGNC:13723 | PA26998 | 16q22.1 |
GO terms in CTCF
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0007059 | chromosome segregation |
| BP | IMP | GO:0008285 | negative regulation of cell proliferation |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IDA | GO:0016584 | nucleosome positioning |
| BP | IMP | GO:0040029 | regulation of gene expression, epigenetic |
| BP | IMP | GO:0040030 | regulation of molecular function, epigenetic |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | NAS | GO:0070602 | regulation of centromeric sister chromatid cohesion |
| BP | IMP | GO:0071459 | protein localization to chromosome, centromeric region |
| CC | IDA | GO:0000775 | chromosome, centromeric region |
| CC | IDA | GO:0000793 | condensed chromosome |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | TAS | GO:0003714 | transcription corepressor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0043035 | chromatin insulator sequence binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
| MF | IBA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
Gene expression in normal tissue: CTCF
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CTCF
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3584 | MECP2 and Associated Rett Syndrome |
| wikipathways | WP3995 | Prion disease pathway |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| biocarta | ctcfpathway | ctcf: first multivalent nuclear factor |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-5617472 | Activation of anterior HOX genes in hindbrain development during early embryogenesis |
| reactome | R-HSA-5619507 | Activation of HOX genes during differentiation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTCF
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