CCCTC-Binding Factor

Alternative Names

  • CTCF
  • Transcriptional Repressor CTCF
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OMIM Number

604167

NCBI Gene ID

10664

Uniprot ID

P49711

Length

76,779 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Transcriptional repressor CTCF

Molecular Mass

82785 Da

Amino Acid Count

727

Genomic Location

chr16:67,562,407-67,639,185

Gene Map Locus
16q22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006565.4:c.1670_1674delGTTCTLebanonchr16:67628521-67628525PathogenicPathogenicMental Retardation, Autosomal Dominant 21NG_033892.1:g.71115_71119del; NM_006565.4:c.1670_1674delGTTCT; NP_006556.1:p.Val556_Cys557insTer886041901280753
NM_006565.4:c.1699C>TUnited Arab EmiratesNC_000016.10:g.67628550C>TPathogenicPathogenicMental Retardation, Autosomal Dominant 21NG_033892.1:g.71144C>T; NM_006565.4:c.1699C>T; NP_006556.1:p.Arg567Trp87925551688638
NM_006565.4:c.615_618delUnited Arab EmiratesNC_000016.10:g.67611447_67611450delPathogenicLikely PathogenicMental Retardation, Autosomal Dominant 21NG_033892.1:g.54041_54044del; NM_006565.4:c.615_618del; NP_006556.1:p.Lys206ProfsTer151555534147521287
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