TFAP2B

Human gene and protein From Wikipedia, the free encyclopedia

Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.[5][6]

AliasesTFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta, PDA2, AP-2beta
End50,847,619 bp[1]
Quick facts Identifiers, Aliases ...
TFAP2B
Identifiers
AliasesTFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta, PDA2, AP-2beta
External IDsOMIM: 601601; MGI: 104672; HomoloGene: 20688; GeneCards: TFAP2B; OMA:TFAP2B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003221

NM_001025305
NM_001286340
NM_009334

RefSeq (protein)

NP_003212

NP_001020476
NP_001273269
NP_033360

Location (UCSC)Chr 6: 50.82 – 50.85 MbChr 1: 19.28 – 19.31 Mb
PubMed search[3][4]
Wikidata
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Function

AP-2 beta is 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.[7]

Clinical significance

Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives.[7]

References

Further reading

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