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    AEBP2 AE binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 121536, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AEBP2provided by HGNC
    Official Full Name
    AE binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:24051
    See related
    Ensembl:ENSG00000139154 MIM:617934; AllianceGenome:HGNC:24051
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA binding activity; metal ion binding activity; and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 7.9), thyroid (RPKM 7.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AEBP2 in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (19404072..19522227)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (19280830..19399011)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (19592426..19675161)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A5 Neighboring gene RNA, 7SL, cytoplasmic 67, pseudogene Neighboring gene serine and arginine rich splicing factor 11 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6074 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:19560966-19561466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:19563503-19564395 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:19584202-19585401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6079 Neighboring gene programmed cell death 5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:19611797-19612320 Neighboring gene RNA, U6 small nuclear 254, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4185 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr12:19649029-19649658 Neighboring gene ribosomal protein L34 pseudogene 25 Neighboring gene uncharacterized LOC101928387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:19781138-19781638 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:19796565-19797124 Neighboring gene NANOG hESC enhancer GRCh37_chr12:19800581-19801082 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:19814513-19814678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:19818855-19819354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:19853628-19854128 Neighboring gene RNA, U1 small nuclear 146, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. β-TRCP-mediated AEBP2 ubiquitination and destruction controls cisplatin resistance in ovarian cancer. Zhang Q, et al. Biochem Biophys Res Commun, 2020 Feb 26. PMID 31864706
    2. Molecular architecture of human polycomb repressive complex 2. Ciferri C, et al. Elife, 2012 Oct 30. PMID 23110252, Free PMC Article
    3. Retrotransposon-derived promoter of Mammalian Aebp2. Kim H, et al. PLoS One, 2015. PMID 25915901, Free PMC Article
    4. Structural and biochemical insights into human zinc finger protein AEBP2 reveals interactions with RBBP4. Sun A, et al. Protein Cell, 2018 Aug. PMID 29134516, Free PMC Article
    5. Cloning and characterization of a novel zinc finger transcriptional repressor. A direct role of the zinc finger motif in repression. He GP, et al. J Biol Chem, 1999 May 21. PMID 10329662

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and other histone modifications.
      Title: JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and other histone modifications.
    2. beta-TRCP-mediated AEBP2 ubiquitination and destruction controls cisplatin resistance in ovarian cancer.
      Title: β-TRCP-mediated AEBP2 ubiquitination and destruction controls cisplatin resistance in ovarian cancer.
    3. The binding interface between AEBP and RBBP4 is relatively small compared with PHF6, histone H3 and FOG-1, indicating that AEBP may not have been the only region that participates in RBBP4 recognition.
      Title: Structural and biochemical insights into human zinc finger protein AEBP2 reveals interactions with RBBP4.
    4. retrotransposons as promoter, which display partial DNA methylation pattern of allelic- or non-allelic origin during different stages of development
      Title: Retrotransposon-derived promoter of Mammalian Aebp2.
    5. The first three-dimensional structure of the human polycomb repressive complex 2 complex bound to its cofactor AEBP2 has been presented.
      Title: Molecular architecture of human polycomb repressive complex 2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of AE binding protein 2 (AEBP2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17922

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of ESC/E(Z) complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESC/E(Z) complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein AEBP2
    Names
    AE(adipocyte enhancer)-binding protein 2
    adipocyte enhancer-binding protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001114176.2 → NP_001107648.1  zinc finger protein AEBP2 isoform b

      See identical proteins and their annotated locations for NP_001107648.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 3' coding region, compared to variant 1, which results in a protein (isoform B) with a longer and distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AA195771, AC091805, BC015624, BC022220, DB244333
      Consensus CDS
      CCDS44841.1
      UniProtKB/Swiss-Prot
      Q59FS5, Q6ZN18, Q6ZN62, Q96BG3
      Related
      ENSP00000381840.3, ENST00000398864.7
      Conserved Domains (2) summary
      COG5048
      Location:215 → 339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:266 → 286
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001267043.2 → NP_001253972.1  zinc finger protein AEBP2 isoform c

      See identical proteins and their annotated locations for NP_001253972.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and represents the use of an alternate promotoer and also lacks a segment in the 3' coding region, compared to variant 1. These differences result in a protein (isoform C) with a shorter and distinct N-terminus and a longer and distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AB209384, AK131410, BC015624, CX868393
      Consensus CDS
      CCDS58215.1
      UniProtKB/TrEMBL
      G5EA50
      Related
      ENSP00000354267.4, ENST00000360995.8
      Conserved Domains (2) summary
      COG5048
      Location:1 → 123
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:50 → 70
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001363736.2 → NP_001350665.1  zinc finger protein AEBP2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC091805
      Conserved Domains (2) summary
      COG5048
      Location:215 → 339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:266 → 286
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_153207.5 → NP_694939.2  zinc finger protein AEBP2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.
      Source sequence(s)
      AA195771, AC091805, BC015624, BC022220, DB244333
      Consensus CDS
      CCDS44842.1
      UniProtKB/Swiss-Prot
      Q6ZN18
      Related
      ENSP00000266508.9, ENST00000266508.14
      Conserved Domains (2) summary
      COG5048
      Location:215 → 339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:266 → 286
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      19404072..19522227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428299.1 → XP_047284255.1  zinc finger protein AEBP2 isoform X2

    2. XM_017018806.2 → XP_016874295.1  zinc finger protein AEBP2 isoform X2

      UniProtKB/TrEMBL
      G5EA50
      Related
      ENSP00000437983.1, ENST00000541908.5
      Conserved Domains (2) summary
      COG5048
      Location:18 → 110
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:37 → 57
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. XM_011520560.2 → XP_011518862.1  zinc finger protein AEBP2 isoform X1

    4. XM_047428298.1 → XP_047284254.1  zinc finger protein AEBP2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      19280830..19399011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371098.1 → XP_054227073.1  zinc finger protein AEBP2 isoform X2

    2. XM_054371096.1 → XP_054227071.1  zinc finger protein AEBP2 isoform X1

    3. XM_054371097.1 → XP_054227072.1  zinc finger protein AEBP2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZN18.2 GenPept UniProtKB/Swiss-Prot:Q6ZN18

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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