Transcription Factor AP2-Alpha

Alternative Names

  • TFAP2A
  • AP2
  • Activating Enhancer-Binding Protein 2-Alpha
  • AP2 Transcription Factor
  • AP2TF
  • TFAP2
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OMIM Number

107580

NCBI Gene ID

7020

Uniprot ID

P05549

Length

23,221 bases

No. of Exons

10

No. of isoforms

4

Protein Name

Transcription factor AP-2-alpha

Molecular Mass

48062 Da

Amino Acid Count

437

Genomic Location

chr6:10,396,676-10,419,896

Gene Map Locus
6p24.3

Description

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three 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_001032280.2:c.749C>TLebanonNC_000006.12:g.10402608G>ALikely Pathogenic, PathogenicLikely PathogenicBranchiooculofacial SyndromeNG_016151.1:g.21957C>T; NM_001032280.2:c.749C>T; NP_001027451.1:p.Ala250Val151344531547803
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