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transcription factor AP-2 gamma OKDB#: 4007
 Symbols: TFAP2C Species: human
 Synonyms: ERF1, TFAP2G, hAP-2g, AP2-GAMMA  Locus: 20q13.31 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment TFAP2C regulates transcription in human naive pluripotency by opening enhancers. Pastor WA et al. (2019) Naive and primed pluripotent human embryonic stem cells bear transcriptional similarity to pre- and post-implantation epiblast and thus constitute a developmental model for understanding the pluripotent stages in human embryo development. To identify new transcription factors that differentially regulate the unique pluripotent stages, we mapped open chromatin using ATAC-seq and found enrichment of the activator protein-2 (AP2) transcription factor binding motif at naive-specific open chromatin. We determined that the AP2 family member TFAP2C is upregulated during primed to naive reversion and becomes widespread at naive-specific enhancers. TFAP2C functions to maintain pluripotency and repress neuroectodermal differentiation during the transition from primed to naive by facilitating the opening of enhancers proximal to pluripotency factors. Additionally, we identify a previously undiscovered naive-specific POU5F1 (OCT4) enhancer enriched for TFAP2C binding. Taken together, TFAP2C establishes and maintains naive human pluripotency and regulates OCT4 expression by mechanisms that are distinct from mouse.//////////////////

NCBI Summary: The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
General function Transcription factor
Comment
Cellular localization Nuclear
Comment
Ovarian function Early embryo development
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: other
Mutation name:
type: null mutation
fertility: infertile - ovarian defect
Comment: Transcription factor AP2 controls cnidarian germ cell induction Dubuc SCIENCE 2020

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Phenotypes and GWAS show phenotypes and GWAS
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created: Feb. 27, 2009, 4:36 p.m. by: hsueh   email:
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last update: Feb. 13, 2020, 11:45 a.m. by: hsueh    email:



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