Transcription Factor AP2-Beta

Alternative Names

  • TFAP2B

Associated Diseases

Char Syndrome
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OMIM Number

601601

NCBI Gene ID

7021

Uniprot ID

Q92481

Length

29,928 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Transcription factor AP-2-beta

Molecular Mass

50474 Da

Amino Acid Count

460

Genomic Location

chr6:50,817,692-50,847,619

Gene Map Locus
6p12

Description

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003221.3:c.601+2134C>TUnited Arab EmiratesNC_000006.12:g.50830813C>TNG_008438.1:g.17088C>T; NM_003221.3:c.601+2134C>T; NP_003212.2:p.?2206277
NM_003221.4:c.602-724A>GUnited Arab EmiratesNC_000006.12:g.50835337A>GObesityNG_008438.1:g.21612A>G; NM_003221.4:c.602-724A>G; NP_003212.2:p.?987237
NM_003221.4:c.650delLebanonchr6:50803822PathogenicChar SyndromeNG_008438.1:g.22384del; NM_003221.4:c.650del; NP_003212.2:p.Gly217fs1561964103599040
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