DOSEN PROFIL LENGKAP

AEBP2
Identifiers
Aliases	AEBP2, AE binding protein 2
External IDs	OMIM: 617934; MGI: 1338038; HomoloGene: 40690; GeneCards: AEBP2; OMA:AEBP2 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	19,720,801 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	140,624,198 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; retinal pigment epithelium; ; skin of arm; ; caput epididymis; ; pancreatic epithelial cell; ; buccal mucosa cell; ; palpebral conjunctiva; ; epithelium of nasopharynx; ; tail of epididymis; ; gingival epithelium;
	Top expressed in
	condyle; ; fossa; ; Paneth cell; ; medullary collecting duct; ; renal corpuscle; ; saccule; ; vestibular membrane of cochlear duct; ; ciliary body; ; endothelial cell of lymphatic vessel; ; otic placode;
	More reference expression data
	n/a
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; protein binding; transcription corepressor activity; metal ion binding; nucleic acid binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; ESC/E(Z) complex; nucleoplasm;
Biological process	negative regulation of gene expression, epigenetic; regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139154 – Ensembl, May 2017
^ ^a ^b ^c 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. Bibcode:2015PLoSO..1026966K. 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. Bibcode:2011PLoSO...625174K. 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.
^ ^a ^b 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. PMC 2685092. 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. Bibcode:2015PLoSO..1026966K. 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. Bibcode:2011PLoSO...625174K. 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. PMC 2685092. PMID 19293275.

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AEBP2

Function

Clinical significance

References

External links

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