Gene: CTCF

Alternate names for this Gene: CFAP108|FAP108|MRD21

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: CCCTC-binding factor

Type of Gene: protein-coding

rs1555534067 in CTCF gene and Dysmorphic features PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 19563753 2009 CTCF: master weaver of the genome.

rs879255516 in CTCF gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

rs1555535739 in CTCF gene and Movement Disorders PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 19563753 2009 CTCF: master weaver of the genome.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

rs1555535739 in CTCF gene and Multiple congenital anomalies PMID 19563753 2009 CTCF: master weaver of the genome.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 22354838 2012 CTCF: insights into insulator function during development.

rs1555534189 in CTCF gene and Muscle hypotonia PMID 19563753 2009 CTCF: master weaver of the genome.

PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs6499137 in CTCF gene and Triglycerides measurement PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.