Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AEBP2 Gene

Aliases for AEBP2 Gene

  • AE Binding Protein 2 2 3 5
  • Adipocyte Enhancer-Binding Protein 2 4
  • AE-Binding Protein 2 4

External Ids for AEBP2 Gene

Previous GeneCards Identifiers for AEBP2 Gene

  • GC12P019457
  • GC12P019484
  • GC12P019483
  • GC12P019592
  • GC12P019556

Summaries for AEBP2 Gene

GeneCards Summary for AEBP2 Gene

AEBP2 (AE Binding Protein 2) is a Protein Coding gene. Diseases associated with AEBP2 include Waardenburg's Syndrome. Among its related pathways are Mesodermal Commitment Pathway and Gene Expression. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding.

UniProtKB/Swiss-Prot for AEBP2 Gene

  • 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AEBP2 Gene

Genomics for AEBP2 Gene

Regulatory Elements for AEBP2 Gene

Enhancers for AEBP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G019234 1 Ensembl ENCODE 4.3 -168.5 -168545 3.0 PKNOX1 ATF1 ZBTB21 FEZF1 ZIC2 YY1 ZNF664 ZNF600 CREM ZNF263 AEBP2 GC12M019265 RN7SL459P
GH12G019227 0.6 ENCODE 4.5 -176.2 -176244 1.3 ZBTB40 RAD21 YY1 JUND ATF3 CEBPA HNF4A EZH2 AEBP2 GC12M019265 RN7SL459P
GH12G019138 1.2 FANTOM5 ENCODE dbSUPER 1.6 -264.4 -264367 2.2 PKNOX1 NFIC NFIB HMBOX1 FOS WT1 YY1 PLEKHA5 AEBP2 ENSG00000253284
GH12G019239 0.4 ENCODE 4.3 -164.5 -164458 0.8 SCRT2 AEBP2 GC12M019265 RN7SL459P
GH12G019262 0.2 ENCODE 4.5 -140.5 -140465 1.7 AEBP2 GC12M019265 RN7SL459P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AEBP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AEBP2 Gene

Chromosome:
12
Start:
19,404,045 bp from pter
End:
19,720,801 bp from pter
Size:
316,757 bases
Orientation:
Plus strand

Genomic View for AEBP2 Gene

Genes around AEBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AEBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AEBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AEBP2 Gene

Proteins for AEBP2 Gene

  • Protein details for AEBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZN18-AEBP2_HUMAN
    Recommended name:
    Zinc finger protein AEBP2
    Protein Accession:
    Q6ZN18
    Secondary Accessions:
    • Q59FS5
    • Q6ZN62
    • Q96BG3

    Protein attributes for AEBP2 Gene

    Size:
    517 amino acids
    Molecular mass:
    54467 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH15624.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH22220.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD18513.1; Type=Erroneous termination; Positions=269; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=EAW96400.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AEBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AEBP2 Gene

Post-translational modifications for AEBP2 Gene

  • Ubiquitination at Lys303 and Lys360
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AEBP2 Gene

Domains & Families for AEBP2 Gene

Protein Domains for AEBP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6ZN18

UniProtKB/Swiss-Prot:

AEBP2_HUMAN :
  • Belongs to the AEBP2/jing C2H2-type zinc-finger family.
Family:
  • Belongs to the AEBP2/jing C2H2-type zinc-finger family.
genes like me logo Genes that share domains with AEBP2: view

No data available for Gene Families for AEBP2 Gene

Function for AEBP2 Gene

Molecular function for AEBP2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for AEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003714 transcription corepressor activity IEA --
genes like me logo Genes that share ontologies with AEBP2: view
genes like me logo Genes that share phenotypes with AEBP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AEBP2 Gene

Localization for AEBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AEBP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AEBP2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for AEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0035098 ESC/E(Z) complex IDA 20075857
genes like me logo Genes that share ontologies with AEBP2: view

Pathways & Interactions for AEBP2 Gene

genes like me logo Genes that share pathways with AEBP2: view

Gene Ontology (GO) - Biological Process for AEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0045814 negative regulation of gene expression, epigenetic TAS --
genes like me logo Genes that share ontologies with AEBP2: view

No data available for SIGNOR curated interactions for AEBP2 Gene

Drugs & Compounds for AEBP2 Gene

No Compound Related Data Available

Transcripts for AEBP2 Gene

Unigene Clusters for AEBP2 Gene

AE binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AEBP2 Gene

No ASD Table

Relevant External Links for AEBP2 Gene

GeneLoc Exon Structure for
AEBP2
ECgene alternative splicing isoforms for
AEBP2

Expression for AEBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AEBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AEBP2 Gene

This gene is overexpressed in Lung (45.2) and Heart (23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AEBP2 Gene



Protein tissue co-expression partners for AEBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AEBP2 Gene:

AEBP2

SOURCE GeneReport for Unigene cluster for AEBP2 Gene:

Hs.126497

Evidence on tissue expression from TISSUES for AEBP2 Gene

  • Nervous system(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with AEBP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AEBP2 Gene

Orthologs for AEBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AEBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AEBP2 34 35
  • 99.4 (n)
dog
(Canis familiaris)
Mammalia AEBP2 34 35
  • 98.07 (n)
cow
(Bos Taurus)
Mammalia AEBP2 34 35
  • 95.82 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aebp2 34
  • 91.34 (n)
mouse
(Mus musculus)
Mammalia Aebp2 34 16 35
  • 87.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AEBP2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves AEBP2 34 35
  • 88.82 (n)
lizard
(Anolis carolinensis)
Reptilia AEBP2 35
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5603 34
zebrafish
(Danio rerio)
Actinopterygii aebp2 34 35
  • 73.29 (n)
Dr.24760 34
fruit fly
(Drosophila melanogaster)
Insecta jing 35
  • 9 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for AEBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AEBP2 Gene

ENSEMBL:
Gene Tree for AEBP2 (if available)
TreeFam:
Gene Tree for AEBP2 (if available)

Paralogs for AEBP2 Gene

No data available for Paralogs for AEBP2 Gene

Variants for AEBP2 Gene

Sequence variations from dbSNP and Humsavar for AEBP2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000021437 -- 19,454,819(+) TACAA(C/T)ACAAA intron-variant
rs1000029055 -- 19,444,505(+) AGGAG(A/G)GCAGA intron-variant
rs1000057995 -- 19,440,899(+) TTAAA(A/T)CATTG intron-variant
rs1000084170 -- 19,513,291(+) AGTGC(C/G)CATTT intron-variant
rs1000088618 -- 19,440,746(+) AACCG(C/T)GTTCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AEBP2 Gene

Variant ID Type Subtype PubMed ID
esv33101 CNV gain 17666407
nsv1041486 CNV gain 25217958
nsv516783 CNV loss 19592680
nsv832346 CNV loss 17160897
nsv975457 CNV duplication 23825009
nsv983292 CNV duplication 23825009

Variation tolerance for AEBP2 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AEBP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AEBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AEBP2 Gene

Disorders for AEBP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AEBP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
waardenburg's syndrome
  • van der hoeve halbertsona waardenburg syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AEBP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AEBP2

Genetic Association Database (GAD)
AEBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AEBP2
genes like me logo Genes that share disorders with AEBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AEBP2 Gene

Publications for AEBP2 Gene

  1. SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex. (PMID: 15225548) Cao R. … Zhang Y. (Mol. Cell 2004) 3 4 64
  2. Role of histone H3 lysine 27 methylation in Polycomb-group silencing. (PMID: 12351676) Cao R. … Zhang Y. (Science 2002) 3 4 64
  3. Cloning and characterization of a novel zinc finger transcriptional repressor. A direct role of the zinc finger motif in repression. (PMID: 10329662) He G.P. … Ro H.S. (J. Biol. Chem. 1999) 2 3 64
  4. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3 64
  5. Retrotransposon-derived promoter of Mammalian Aebp2. (PMID: 25915901) Kim H. … Kim J. (PLoS ONE 2015) 3 64

Products for AEBP2 Gene

Sources for AEBP2 Gene

Content
Loading form....