Aliases for AEBP2 Gene

Aliases for AEBP2 Gene

  • AE Binding Protein 2 2 3 5
  • Adipocyte Enhancer-Binding Protein 2 3 4
  • Zinc Finger Protein AEBP2 3 4
  • AE(Adipocyte Enhancer)-Binding Protein 2 3
  • AE-Binding Protein 2 4
  • MGC17922 2
  • AEBP2 5

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 Hereditary Lymphedema I and Weaver Syndrome. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is GLI3.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for AEBP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AEBP2 Gene

Genomics for AEBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AEBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J019437 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.3 +37.2 37225 7.1 RNF2 SP1 CREB1 GATAD2A PRDM10 ZNF629 POLR2A BACH1 TARDBP JUND AEBP2 RF00026-225 RNU6-254P piR-32214-113 lnc-AEBP2-1 PDE3A
GH12J019401 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE 600.7 -0.5 -489 3.5 ZNF692 RXRB ZNF600 CEBPA SOX13 NR3C1 ZBTB11 NFIC NFIB CEBPB AEBP2 PDCD5P1 piR-61945-091 LOC112268092 lnc-AEBP2-1
GH12J019997 Enhancer 1 Ensembl ENCODE dbSUPER 14.8 +595.2 595213 3.9 POLR2A SP1 BRCA1 CEBPB CHD2 JUN YY1 JUND EP300 FOSL2 lnc-PLCZ1-5 RPL7P6 AEBP2 LINC02398 lnc-PLCZ1-1 ENSG00000255910 PDE3A
GH12J019234 Enhancer 0.9 ENCODE CraniofacialAtlas 4.3 -168.5 -168513 2.9 ZNF629 ZIC2 PKNOX1 POLR2A ZNF600 CEBPB OSR2 YY1 ZBTB17 ATF2 AEBP2 piR-39098-048 lnc-AEBP2-2 LOC112268092 PLEKHA5
GH12J019299 Enhancer 0.7 Ensembl ENCODE 4.7 -104.2 -104244 1.6 ESR1 CEBPB ZNF316 MAFF MAFK JUND FOS EMSY FOSL2 AEBP2 RF00017-1106 RN7SL67P lnc-AEBP2-6 LOC112268092 RF00017-1105 PLEKHA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AEBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AEBP2

Top Transcription factor binding sites by QIAGEN in the AEBP2 gene promoter:
  • AREB6
  • C/EBPalpha
  • Hlf
  • Lhx3a
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Sox5
  • Spz1

Genomic Locations for AEBP2 Gene

Genomic Locations for AEBP2 Gene
chr12:19,404,045-19,720,801
(GRCh38/hg38)
Size:
316,757 bases
Orientation:
Plus strand
chr12:19,556,979-19,873,735
(GRCh37/hg19)
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; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=EAW96400.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AEBP2 Gene

    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

Gene Families for AEBP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for AEBP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AEBP2 Gene

GenScript: Design optimal peptide antigens:
  • Adipocyte enhancer-binding protein 2 (AEBP2_HUMAN)
  • cDNA FLJ45026 fis, clone BRAWH3017477, highly similar to Mus musculus AE binding protein 2 (Aebp2), transcript variant 1, mRNA (B3KXA1_HUMAN)

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

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.

Phenotypes From GWAS Catalog for AEBP2 Gene

Gene Ontology (GO) - Molecular Function for AEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AEBP2

Clone Products

  • Addgene plasmids for AEBP2

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,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 by RNA polymerase II IEA --
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated 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

mRNA/cDNA for AEBP2 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AEBP2

Clone Products

  • Addgene plasmids for AEBP2

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

No ASD Table

Relevant External Links for AEBP2 Gene

GeneLoc Exon Structure for
AEBP2

Expression for AEBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AEBP2 Gene



Protein tissue co-expression partners for AEBP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AEBP2

SOURCE GeneReport for Unigene cluster for AEBP2 Gene:

Hs.126497

Evidence on tissue expression from TISSUES for AEBP2 Gene

  • Nervous system(4.4)
  • Eye(4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with AEBP2: view

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 30 31
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AEBP2 30 31
  • 98.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AEBP2 30 31
  • 95.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Aebp2 30
  • 91.34 (n)
Mouse
(Mus musculus)
Mammalia Aebp2 30 17 31
  • 87.96 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AEBP2 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AEBP2 30 31
  • 88.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AEBP2 31
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5603 30
Zebrafish
(Danio rerio)
Actinopterygii aebp2 30 31
  • 73.29 (n)
OneToOne
Dr.24760 30
Fruit Fly
(Drosophila melanogaster)
Insecta jing 31
  • 9 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for AEBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AEBP2: view image

Paralogs for AEBP2 Gene

Paralogs for AEBP2 Gene

(33) SIMAP similar genes for AEBP2 Gene using alignment to 5 proteins:

  • AEBP2_HUMAN
  • F5GZR7_HUMAN
  • G5EA50_HUMAN
  • H0YH08_HUMAN
  • H7BYT4_HUMAN
genes like me logo Genes that share paralogs with AEBP2: view

Variants for AEBP2 Gene

Additional dbSNP identifiers (rs#s) for AEBP2 Gene

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)

Additional Variant Information for AEBP2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AEBP2 Gene

Disorders for AEBP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AEBP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hereditary lymphedema i
  • nonne-milroy lymphedema
weaver syndrome
  • wvs
hereditary lymphedema
  • milroy disease
waardenburg's syndrome
  • waardenburg syndrome, type 4a
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search AEBP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (Molecular cell 2004) 3 4
  2. Role of histone H3 lysine 27 methylation in Polycomb-group silencing. (PMID: 12351676) Cao R … Zhang Y (Science (New York, N.Y.) 2002) 3 4
  3. Cloning and characterization of a novel zinc finger transcriptional repressor. A direct role of the zinc finger motif in repression. (PMID: 10329662) He GP … Ro HS (The Journal of biological chemistry 1999) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for AEBP2 Gene

  • Signalway Proteins for AEBP2

Sources for AEBP2 Gene