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; OMA:AEBP2 - orthologs
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 140,568,389 bp[2] End 140,624,198 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 140.57 – 140.62 Mb PubMed search [3] [4]
Wikidata
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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]