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

    Gene ID: 121536, updated on 9-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AEBP2 in Genome Data Viewer
    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

    Expression

    • 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

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001114176.2NP_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:215339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:266286
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001267043.2NP_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:1123
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:5070
      ZF_C2H2; C2H2 Zn finger [structural motif]
    3. NM_001363736.2NP_001350665.1  zinc finger protein AEBP2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC091805
      Conserved Domains (2) summary
      COG5048
      Location:215339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:266286
      ZF_C2H2; C2H2 Zn finger [structural motif]
    4. NM_153207.5NP_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:215339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:266286
      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_047428299.1XP_047284255.1  zinc finger protein AEBP2 isoform X2

      UniProtKB/TrEMBL
      G5EA50
    2. XM_017018806.2XP_016874295.1  zinc finger protein AEBP2 isoform X2

      UniProtKB/TrEMBL
      G5EA50
      Related
      ENSP00000437983.1, ENST00000541908.5
      Conserved Domains (2) summary
      COG5048
      Location:18110
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:3757
      ZF_C2H2; C2H2 Zn finger [structural motif]
    3. XM_011520560.2XP_011518862.1  zinc finger protein AEBP2 isoform X1

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

      UniProtKB/TrEMBL
      G5EA50

    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_054371098.1XP_054227073.1  zinc finger protein AEBP2 isoform X2

      UniProtKB/TrEMBL
      G5EA50
    2. XM_054371096.1XP_054227071.1  zinc finger protein AEBP2 isoform X1

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

      UniProtKB/TrEMBL
      G5EA50