AEBP2

Protein-coding gene in humans
AEBP2
Identifiers
AliasesAEBP2, AE binding protein 2
External IDsOMIM: 617934; MGI: 1338038; HomoloGene: 40690; GeneCards: AEBP2; OMA:AEBP2 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for AEBP2
Genomic location for AEBP2
Band12p12.3Start19,404,045 bp[1]
End19,720,801 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for AEBP2
Genomic location for AEBP2
Band6|6 G2Start140,568,389 bp[2]
End140,624,198 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 140.57 – 140.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139154 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  • v
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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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