TFAP2B

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TFAP2B
Identifiers
AliasesTFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta, PDA2
External IDsMGI: 104672 HomoloGene: 20688 GeneCards: TFAP2B
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for TFAP2B
Genomic location for TFAP2B
Band6p12.3Start50,818,723 bp[1]
End50,847,619 bp[1]
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: 19.21 – 19.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Function[edit]

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[edit]

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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000008196 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025927 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. 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. ^ a b "Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)".

Further reading[edit]

External links[edit]

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