AEBP2

Last updated
AEBP2
Identifiers
Aliases AEBP2 , AE binding protein 2
External IDs OMIM: 617934 MGI: 1338038 HomoloGene: 40690 GeneCards: AEBP2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001114176
NM_001267043
NM_153207
NM_001363736

NM_001005605
NM_009637
NM_178803
NM_001309436
NM_001309437

Contents

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
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]

Related Research Articles

<span class="mw-page-title-main">Antisense RNA</span>

Antisense RNA (asRNA), also referred to as antisense transcript, natural antisense transcript (NAT) or antisense oligonucleotide, is a single stranded RNA that is complementary to a protein coding messenger RNA (mRNA) with which it hybridizes, and thereby blocks its translation into protein. The asRNAs have been found in both prokaryotes and eukaryotes, and can be classified into short and long non-coding RNAs (ncRNAs). The primary function of asRNA is regulating gene expression. asRNAs may also be produced synthetically and have found wide spread use as research tools for gene knockdown. They may also have therapeutic applications.

<span class="mw-page-title-main">Silencer (genetics)</span> Type of DNA sequence

In genetics, a silencer is a DNA sequence capable of binding transcription regulation factors, called repressors. DNA contains genes and provides the template to produce messenger RNA (mRNA). That mRNA is then translated into proteins. When a repressor protein binds to the silencer region of DNA, RNA polymerase is prevented from transcribing the DNA sequence into RNA. With transcription blocked, the translation of RNA into proteins is impossible. Thus, silencers prevent genes from being expressed as proteins.

Polycomb-group proteins are a family of protein complexes first discovered in fruit flies that can remodel chromatin such that epigenetic silencing of genes takes place. Polycomb-group proteins are well known for silencing Hox genes through modulation of chromatin structure during embryonic development in fruit flies. They derive their name from the fact that the first sign of a decrease in PcG function is often a homeotic transformation of posterior legs towards anterior legs, which have a characteristic comb-like set of bristles.

<span class="mw-page-title-main">DNA-PKcs</span> Protein-coding gene in the species Homo sapiens

DNA-dependent protein kinase, catalytic subunit, also known as DNA-PKcs, is an enzyme that in humans is encoded by the gene designated as PRKDC or XRCC7. DNA-PKcs belongs to the phosphatidylinositol 3-kinase-related kinase protein family. The DNA-Pkcs protein is a serine/threonine protein kinase consisting of a single polypeptide chain of 4,128 amino acids.

<span class="mw-page-title-main">EZH2</span> Protein-coding gene in the species Homo sapiens

Enhancer of zeste homolog 2 (EZH2) is a histone-lysine N-methyltransferase enzyme encoded by EZH2 gene, that participates in histone methylation and, ultimately, transcriptional repression. EZH2 catalyzes the addition of methyl groups to histone H3 at lysine 27, by using the cofactor S-adenosyl-L-methionine. Methylation activity of EZH2 facilitates heterochromatin formation thereby silences gene function. Remodeling of chromosomal heterochromatin by EZH2 is also required during cell mitosis.

<span class="mw-page-title-main">HES1</span> Protein-coding gene in the species Homo sapiens

Transcription factor HES1 is a protein that is encoded by the Hes1 gene, and is the mammalian homolog of the hairy gene in Drosophila. HES1 is one of the seven members of the Hes gene family (HES1-7). Hes genes code nuclear proteins that suppress transcription.

<span class="mw-page-title-main">RNF2</span> Protein-coding gene in the species Homo sapiens

E3 ubiquitin-protein ligase RING2 is an enzyme that in humans is encoded by the RNF2 gene.

<span class="mw-page-title-main">CTBP2</span> Protein-coding gene in the species Homo sapiens

C-terminal-binding protein 2 also known as CtBP2 is a protein that in humans is encoded by the CTBP2 gene.

<span class="mw-page-title-main">PCGF2</span> Protein-coding gene in the species Homo sapiens

Polycomb group RING finger protein 2, PCGF2, also known as MEL18 or RNF110, is a protein that in humans is encoded by the PCGF2 gene.

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<span class="mw-page-title-main">PCGF1</span> Protein-coding gene in the species Homo sapiens

Polycomb group RING finger protein 1, PCGF1, also known as NSPC1 or RNF68 is a RING finger domain protein that in humans is encoded by the PCGF1 gene.

<span class="mw-page-title-main">PRC2</span>

PRC2 is one of the two classes of polycomb-group proteins or (PcG). The other component of this group of proteins is PRC1.

<span class="mw-page-title-main">MLST8</span> Protein-coding gene in humans

Target of rapamycin complex subunit LST8, also known as mammalian lethal with SEC13 protein 8 (mLST8) or TORC subunit LST8 or G protein beta subunit-like, is a protein that in humans is encoded by the MLST8 gene. It is a subunit of both mTORC1 and mTORC2, complexes that regulate cell growth and survival in response to nutrient, energy, redox, and hormonal signals. It is upregulated in several human colon and prostate cancer cell lines and tissues. Knockdown of mLST8 prevented mTORC formation and inhibited tumor growth and invasiveness.

<span class="mw-page-title-main">MXD3</span> Protein-coding gene in the species Homo sapiens

MAX dimerization protein 3 is a protein that in humans is encoded by the MXD3 gene located on Chromosome 5.

<span class="mw-page-title-main">KDM2B</span> Protein-coding gene in humans

The human KDM2B gene encodes the protein lysine (K)-specific demethylase 2B.

<span class="mw-page-title-main">Joomyeong Kim</span>

Joomyeong Kim is a Russell Thompson, Jr. Family Professor of Biology at Louisiana State University. His research interests include genomic imprinting and epigenetics. Dr. Kim's laboratory is mainly involved in understanding the functions and regulatory mechanisms governing genes subject to genomic imprinting. Having previously characterized an imprinted domain located on proximal mouse chromosome 7/ human chromosome 19q13.4, his laboratory currently focuses on understanding regulatory mechanisms directing the mono-allelic expression of the seven imprinted genes in the cluster: Peg3, Usp29, Zfp264, APeg3 and Zim1, Zim2, Zim3. As a second project direction, his lab studies the function of the dominant gene in the cluster, Peg3, as a transcriptional regulator. Past projects in the Kim lab have included studying the epigenetic instability of imprinted genes during tumorigenesis, potential roles of AEBP2 as a PRC2 targeting protein and in neural crest cell development, as well as the DNA methylation of mouse and human retrotransposons.

Epigenetics of human development is the study of how epigenetics effects human development.

H3K27me3 is an epigenetic modification to the DNA packaging protein Histone H3. It is a mark that indicates the tri-methylation of lysine 27 on histone H3 protein.

<span class="mw-page-title-main">Additional sex combs like 2, transcriptional regulator</span> Protein-coding gene in humans

Additional sex combs like 2, transcriptional regulator is a protein that in humans is encoded by the ASXL2 gene.

H3K9me2 is an epigenetic modification to the DNA packaging protein Histone H3. It is a mark that indicates the di-methylation at the 9th lysine residue of the histone H3 protein. H3K9me2 is strongly associated with transcriptional repression. H3K9me2 levels are higher at silent compared to active genes in a 10kb region surrounding the transcriptional start site. H3K9me2 represses gene expression both passively, by prohibiting acetylation as therefore binding of RNA polymerase or its regulatory factors, and actively, by recruiting transcriptional repressors. H3K9me2 has also been found in megabase blocks, termed Large Organised Chromatin K9 domains (LOCKS), which are primarily located within gene-sparse regions but also encompass genic and intergenic intervals. Its synthesis is catalyzed by G9a, G9a-like protein, and PRDM2. H3K9me2 can be removed by a wide range of histone lysine demethylases (KDMs) including KDM1, KDM3, KDM4 and KDM7 family members. H3K9me2 is important for various biological processes including cell lineage commitment, the reprogramming of somatic cells to induced pluripotent stem cells, regulation of the inflammatory response, and addiction to drug use.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000139154 - Ensembl, May 2017
  2. 1 2 3 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. Bibcode:2015PLoSO..1026966K. 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. Bibcode:2011PLoSO...625174K. 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. 1 2 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.