TFAP2B

Last updated
TFAP2B
Identifiers
Aliases TFAP2B , AP-2B, AP2-B, transcription factor AP-2 beta, PDA2, AP-2beta
External IDs OMIM: 601601 MGI: 104672 HomoloGene: 20688 GeneCards: TFAP2B
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 Mb Chr 1: 19.28 – 19.31 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000008196 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025927 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. doi:10.1242/dev.121.9.2779. PMID   7555706.
  6. 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. doi: 10.1006/geno.1996.0351 . PMID   8661133.
  7. 1 2 "Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)".

Further reading

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