CTCF

CCCTC-binding factor

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]

Known Variants212 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14901267116:67,596,482C/Gregulatory region variant—
rs11127879016:67,599,756G/T—likely benign
rs7717274716:67,605,125G/A5 prime UTR variant—
rs5733786416:67,640,436G/Aintron variant—
rs11173598616:67,644,449G/A—benign
rs36861234016:67,644,716C/T—benign
rs54971190216:67,644,753C/T—benign
rs143420459916:67,644,764T/C—uncertain significance
rs159771339116:67,644,772T/G—uncertain significance
rs36818470016:67,644,800G/A—uncertain significance
rs155553406716:67,644,810C/A—pathogenic
rs37165296916:67,644,819C/T—likely benign
rs254344677316:67,644,839A/G—uncertain significance
rs77589616116:67,644,853T/G—uncertain significance
rs254344687116:67,644,855A/T—uncertain significance
rs36907223316:67,644,856C/T—uncertain significance
rs75023044216:67,644,863A/G—uncertain significance
rs75580096416:67,644,865C/A—uncertain significance
rs76632076116:67,644,866A/G—likely benign
rs205205411416:67,644,871G/A—likely benign
rs77836866516:67,644,875G/A—uncertain significance
rs13786196616:67,644,883G/A—uncertain significance
rs74741222716:67,644,885G/A—likely benign
rs77137289116:67,644,888C/T—likely benign
rs214282393516:67,644,895G/T—uncertain significance
rs14945634316:67,644,900C/T—likely benign
rs76438528316:67,644,905G/A—uncertain significance
rs75239194116:67,644,938C/G—uncertain significance
rs141314244016:67,644,951G/T—uncertain significance
rs75779912016:67,644,982G/C—uncertain significance
rs205205627716:67,645,015C/T—likely pathogenic
rs74951015116:67,645,038A/G—likely benign
rs254344776416:67,645,041T/C—likely benign
rs141932253616:67,645,042A/G—uncertain significance
rs205205655416:67,645,048G/A—uncertain significance
rs214282479016:67,645,072C/A—uncertain significance
rs254344793216:67,645,086A/C—uncertain significance
rs37680785116:67,645,101G/A—likely benign
rs76506927616:67,645,110T/C—likely benign
rs254344813916:67,645,123T/C—uncertain significance
rs75684088616:67,645,125A/G—likely benign
rs74816232416:67,645,172G/A—uncertain significance
rs93347080016:67,645,174C/T—uncertain significance
rs144204002016:67,645,178C/G—uncertain significance
rs214282583216:67,645,251T/G—uncertain significance
rs214282586216:67,645,258G/A—uncertain significance
rs143033954016:67,645,264A/G—uncertain significance
rs205205978416:67,645,270G/A—uncertain significance
rs76682331016:67,645,292A/G—uncertain significance
rs132676392116:67,645,310A/C—uncertain significance
rs77940479516:67,645,311A/G—likely benign
rs254344916216:67,645,318C/G—uncertain significance
rs214282635416:67,645,364G/A—uncertain significance
rs122059049916:67,645,372C/T—uncertain significance
rs139096995416:67,645,373G/A—uncertain significance
rs254344957416:67,645,394A/G—uncertain significance
rs214282660916:67,645,412A/G—pathogenic
rs75429945216:67,645,443G/A—likely benign
rs141498164116:67,645,449A/G—likely benign
rs75310167316:67,645,467A/G—likely benign
rs214282704216:67,645,518T/G—uncertain significance
rs155553418916:67,645,852A/G—pathogenic
rs214282793616:67,645,853G/C—pathogenic
rs75172633016:67,645,856G/A—uncertain significance
rs205206831816:67,645,870C/G—uncertain significance
rs214282812416:67,645,885C/G—uncertain significance
rs77901212516:67,645,905G/T—uncertain significance
rs156760906716:67,645,920G/A—likely pathogenic
rs205206877216:67,645,953A/C—conflicting classifications of pathogenicity
rs121527301316:67,645,960C/T—likely benign
rs214282881616:67,645,967T/C—uncertain significance
rs214282886716:67,645,973A/G—uncertain significance
rs20219219616:67,645,999G/A—likely benign
rs14377019616:67,646,165T/C—likely benign
rs11701716516:67,646,311G/Adownstream gene variant—
rs116125713416:67,650,653C/G—likely pathogenic
rs214283931516:67,650,654G/A—likely pathogenic
rs77740224716:67,650,664G/A—conflicting classifications of pathogenicity
rs205213691316:67,650,674T/C—pathogenic
rs129409183516:67,650,679C/T—likely benign
rs254346272616:67,650,698G/A—likely pathogenic
rs214283945316:67,650,701G/C—likely pathogenic
rs155553482716:67,650,707G/T—uncertain significance
rs156761091716:67,650,711G/A—conflicting classifications of pathogenicity
rs78091161516:67,650,716C/T—uncertain significance
rs148699707416:67,650,717G/A—uncertain significance
rs113169128316:67,650,719C/T—pathogenic
rs100212575316:67,650,720G/A—pathogenic
rs214283961916:67,650,728C/T—likely pathogenic
rs214283968816:67,650,737G/A—conflicting classifications of pathogenicity
rs205213811516:67,650,752T/G—uncertain significance
rs214283973316:67,650,759T/C—conflicting classifications of pathogenicity
rs254346308216:67,650,761T/G—uncertain significance
rs214283979016:67,650,773A/C—uncertain significance
rs159771810616:67,650,774G/T—conflicting classifications of pathogenicity
rs5629806716:67,651,040G/A—likely benign
rs11651256916:67,654,464G/T—likely benign
rs11586865316:67,654,512C/G—benign
rs37410956216:67,654,591G/A—benign
rs77680493916:67,654,611A/C—likely pathogenic

Showing 100 of 212 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.