AEBP2

AEBP2
Identifiers
Aliases	AEBP2, AE binding protein 2
External IDs	OMIM: 617934 MGI: 1338038 HomoloGene: 40690 GeneCards: AEBP2
Gene location (Human)
Chr.	Chromosome 12 (human)[1]
End	19,720,801 bp[1]
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)[2]
End	140,678,472 bp[2]
Gene ontology
Molecular function	• GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • DNA binding; • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • GO:0001948 protein binding; • GO:0001106 transcription corepressor activity; • metal ion binding; • nucleic acid binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• cell nucleus; • ESC/E(Z) complex; • nucleoplasm;
Biological process	• negative regulation of gene expression, epigenetic; • regulation of transcription, DNA-templated; • negative regulation of transcription from RNA polymerase II promoter; • transcription, DNA-templated; • chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	121536
	11569
	ENSG00000139154
	ENSMUSG00000030232
	Q6ZN18
	Q9Z248
	NM_001114176; NM_001267043; NM_153207; NM_001363736
	NM_001005605; NM_009637; NM_178803; NM_001309436; NM_001309437
	NP_001107648; NP_001253972; NP_694939; NP_001350665
	NP_001005605; NP_001296365; NP_001296366; NP_033767; NP_848918
	Wikidata
View/Edit Human	View/Edit Mouse

Adipocyte Enhancer-Binding Protein is a zinc finger protein that in humans is encoded by the evolutionarily well-conserved gene AEBP2. It was initially identified due to its binding capability to the promoter[5] of the adipocyte P2 gene, and was therefore named Adipocyte Enhancer Binding Protein 2. AEBP2 is a potential targeting protein for the mammalian Polycomb Repression Complex 2 (PRC2).[6]

Function

AEBP2 is a DNA-binding transcriptional repressor. It may interact with and stimulate the activity of the PRC2 complex.[7]

AEBP2 may regulate the migration and development of the neural crest cells through the PRC2-mediated epigenetic mechanism and is most likely a targeting protein for the mammalian PRC2 complex.[8]

Clinical significance

Diseases associated with AEBP2 include Waardenburg's syndrome, and Hirschsprung's disease.[8]

References

GRCh38: Ensembl release 89: ENSG00000139154 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000030232 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Imhof, Axel; Kim, Hana; Bakshi, Arundhati; Kim, Joomyeong (2015). "Retrotransposon-Derived Promoter of Mammalian Aebp2". PLOS ONE. 10 (4): e0126966. doi:10.1371/journal.pone.0126966. ISSN 1932-6203. PMC 4411029. PMID 25915901.
Kim H, Kang K, Ekram MB, Roh TY, Kim J (2011). "Aebp2 as an epigenetic regulator for neural crest cells". PLOS ONE. 6 (9): e25174. doi:10.1371/journal.pone.0025174. PMID 21949878.
Cao R, Zhang Y (July 2004). "SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex". Mol. Cell. 15 (1): 57–67. doi:10.1016/j.molcel.2004.06.020. PMID 15225548.
Kim H, Kang K, Kim J (2009). "AEBP2 as a potential targeting protein for Polycomb Repression Complex PRC2". Nucleic Acids Res. 37 (9): 2940–50. doi:10.1093/nar/gkp149. PMID 19293275.

External links

Human AEBP2 genome location and AEBP2 gene details page in the UCSC Genome Browser.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139154 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030232 - 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.

[ImhofKim2015-5] Imhof, Axel; Kim, Hana; Bakshi, Arundhati; Kim, Joomyeong (2015). "Retrotransposon-Derived Promoter of Mammalian Aebp2". PLOS ONE. 10 (4): e0126966. doi:10.1371/journal.pone.0126966. ISSN 1932-6203. PMC 4411029. PMID 25915901.

[pmid21949878-6] Kim H, Kang K, Ekram MB, Roh TY, Kim J (2011). "Aebp2 as an epigenetic regulator for neural crest cells". PLOS ONE. 6 (9): e25174. doi:10.1371/journal.pone.0025174. PMID 21949878.

[pmid15225548-7] Cao R, Zhang Y (July 2004). "SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex". Mol. Cell. 15 (1): 57–67. doi:10.1016/j.molcel.2004.06.020. PMID 15225548.

[Kim_2009-8] Kim H, Kang K, Kim J (2009). "AEBP2 as a potential targeting protein for Polycomb Repression Complex PRC2". Nucleic Acids Res. 37 (9): 2940–50. doi:10.1093/nar/gkp149. PMID 19293275.