AEBP2

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]

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] Band 12p12.3 Start 19,404,045 bp[1] End 19,720,801 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 G2 Start 140,622,663 bp[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
Species	Human	Mouse
Entrez	121536	11569
Ensembl	ENSG00000139154	ENSMUSG00000030232
UniProt	Q6ZN18	Q9Z248
RefSeq (mRNA)	NM_001114176 NM_001267043 NM_153207 NM_001363736	NM_001005605 NM_009637 NM_178803 NM_001309436 NM_001309437
RefSeq (protein)	NP_001107648 NP_001253972 NP_694939 NP_001350665	NP_001005605 NP_001296365 NP_001296366 NP_033767 NP_848918
Location (UCSC)	Chr 12: 19.4 – 19.72 Mb	Chr 6: 140.62 – 140.68 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000139154 - Ensembl, May 2017
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.
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.
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.
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.
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.

External links

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