Human Gene AEBP2 (uc001ref.2) Description and Page Index
  Description: Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr12:19,592,608-19,675,173 Size: 82,566 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr12:19,592,634-19,671,654 Size: 79,021 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:19,592,608-19,675,173)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger protein AEBP2; AltName: Full=Adipocyte enhancer-binding protein 2; Short=AE-binding protein 2;
FUNCTION: DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates 'Lys-9' and 'Lys-27' residues of histone H3.
SUBUNIT: Self-associates. Interacts with EED, EZH2, RBBP4 and SUZ12. Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2 (By similarity). May also interact with RBBP7.
SIMILARITY: Belongs to the AEBP2/jing C2H2-type zinc-finger family.
SIMILARITY: Contains 3 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=AAH15624.1; Type=Erroneous initiation; Sequence=AAH22220.1; Type=Erroneous initiation; Sequence=BAD18513.1; Type=Erroneous termination; Positions=269; Note=Translated as Gln; Sequence=EAW96400.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AEBP2
CDC HuGE Published Literature: AEBP2
Positive Disease Associations: Cardiomegaly , Memory , Pulse
Related Studies:
  1. Cardiomegaly
    Christopher Newton-Cheh et al. BMC medical genetics 2007, Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study., BMC medical genetics. [PubMed 17903306]
    In the community-based Framingham Heart Study none of the ECG and HRV results individually attained genomewide significance. However, the presence of bona fide QT-associated SNPs among the top 117 results for QT duration supports the importance of efforts to validate top results from the reported scans. Finding genetic variants associated with ECG and HRV quantitative traits may identify novel genes and pathways implicated in arrhythmogenesis and allow for improved recognition of individuals at high risk for arrhythmias in the general population.
  2. Memory
    Sudha Seshadri et al. BMC medical genetics 2007, Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study., BMC medical genetics. [PubMed 17903297]
    Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.
  3. Pulse
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.85 RPKM in Artery - Tibial
Total median expression: 314.25 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.8026-0.146 Picture PostScript Text
3' UTR -819.893519-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q6ZN18
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0045814 negative regulation of gene expression, epigenetic

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0035098 ESC/E(Z) complex

-  Descriptions from all associated GenBank mRNAs
  AK131361 - Homo sapiens cDNA FLJ16400 fis, clone TUTER2000057, moderately similar to Mus musculus AE-1 binding protein AEBP2 mRNA.
AK126973 - Homo sapiens cDNA FLJ45026 fis, clone BRAWH3017477, highly similar to Mus musculus AE binding protein 2 (Aebp2), transcript variant 1, mRNA.
BC022220 - Homo sapiens AE binding protein 2, mRNA (cDNA clone MGC:17922 IMAGE:3914323), complete cds.
AB209384 - Homo sapiens mRNA for AE binding protein 2 variant protein.
BC015624 - Homo sapiens AE binding protein 2, mRNA (cDNA clone MGC:23151 IMAGE:4843866), complete cds.
KJ903690 - Synthetic construct Homo sapiens clone ccsbBroadEn_13084 AEBP2 gene, encodes complete protein.
EU446564 - Synthetic construct Homo sapiens clone IMAGE:100070075; IMAGE:100011773; FLH258286.01L AE binding protein 2 (AEBP2) gene, encodes complete protein.
AK131410 - Homo sapiens cDNA FLJ16516 fis, clone NT2RI2018448, highly similar to Mus musculus AE binding protein 2 (Aebp2).
JD138944 - Sequence 119968 from Patent EP1572962.
JD272235 - Sequence 253259 from Patent EP1572962.
JD125414 - Sequence 106438 from Patent EP1572962.
JD125415 - Sequence 106439 from Patent EP1572962.
JD140026 - Sequence 121050 from Patent EP1572962.
AK025788 - Homo sapiens cDNA: FLJ22135 fis, clone HEP20858.
JD263127 - Sequence 244151 from Patent EP1572962.
JD281191 - Sequence 262215 from Patent EP1572962.
JD222938 - Sequence 203962 from Patent EP1572962.
JD331489 - Sequence 312513 from Patent EP1572962.
JD272483 - Sequence 253507 from Patent EP1572962.
JD363913 - Sequence 344937 from Patent EP1572962.
JD554007 - Sequence 535031 from Patent EP1572962.
JD423059 - Sequence 404083 from Patent EP1572962.
JD550887 - Sequence 531911 from Patent EP1572962.
JD047294 - Sequence 28318 from Patent EP1572962.
JD090969 - Sequence 71993 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6ZN18 (Reactome details) participates in the following event(s):

R-HSA-5638332 PRC2 (EZH2) Core:AEBP2 methylates lysine-28 of histone H3 (H3K27)
R-HSA-212263 PRC2 trimethylates histone H3 at lysine-27
R-HSA-212300 PRC2 methylates histones and DNA
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-74160 Gene expression (Transcription)
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: AEBP2_HUMAN, NM_001114176, NP_001107648, Q59FS5, Q6ZN18, Q6ZN62, Q96BG3
UCSC ID: uc001ref.2
RefSeq Accession: NM_001114176
Protein: Q6ZN18 (aka AEBP2_HUMAN)
CCDS: CCDS44841.1, CCDS44842.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001114176.1
exon count: 9CDS single in 3' UTR: no RNA size: 5099
ORF size: 1554CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3191.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.