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TFAP2B

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Identifiers
SymbolsTFAP2B ; AP-2B; AP2-B
External IDsOMIM601601 MGI104672 HomoloGene20688 GeneCards: TFAP2B Gene
Orthologs
SpeciesHumanMouse
Entrez702121419
EnsemblENSG00000008196ENSMUSG00000025927
UniProtQ92481Q61313
RefSeq (mRNA)NM_003221NM_001025305
RefSeq (protein)NP_003212NP_001020476
Location (UCSC)Chr 6:
50.79 – 50.82 Mb
Chr 1:
19.21 – 19.24 Mb
PubMed search[1][2]

Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.[1][2]

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.[3]

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.[3]

References

  1. ^ Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, Hofstädter F, Schüle R, Buettner R (1 September 1995). "Cloning and characterization of a second AP-2 transcription factor: AP-2 beta". Development 121 (9): 2779–88. PMID 7555706. 
  2. ^ Williamson JA, Bosher JM, Skinner A, Sheer D, Williams T, Hurst HC (July 1996). "Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors". Genomics 35 (1): 262–4. PMID 8661133. doi:10.1006/geno.1996.0351. 
  3. ^ a b "Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)". 

Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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