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

Gene ID: 121536, updated on 3-Apr-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 transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of transcription, DNA-templated. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 7.9), thyroid (RPKM 7.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p12.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (19404072..19522227)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (19280830..19399011)
105.20220307 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
  • 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. Retrotransposon-derived promoter of Mammalian Aebp2. Kim H, et al. PLoS One, 2015. PMID 25915901, Free PMC Article
  3. Molecular architecture of human polycomb repressive complex 2. Ciferri C, et al. Elife, 2012 Oct 30. PMID 23110252, 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 (43) 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 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 
part_of 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_2023_10

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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