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    Aebp2 AE binding protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 11569, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Aebp2provided by MGI
    Official Full Name
    AE binding protein 2provided by MGI
    Primary source
    MGI:MGI:1338038
    See related
    Ensembl:ENSMUSG00000030232 AllianceGenome:MGI:1338038
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    B230313N05Rik
    Summary
    Enables transcription coregulator activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within regulation of DNA-templated transcription. Located in nucleus. Part of ESC/E(Z) complex. Is expressed in several structures, including autopod; brain ventricular layer; early conceptus; genitourinary system; and gut. Used to study Hirschsprung's disease and Waardenburg syndrome. Orthologous to human AEBP2 (AE binding protein 2). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 9.4), CNS E11.5 (RPKM 7.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aebp2 in Genome Data Viewer
    Location:
    6 G2; 6 70.71 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (140567480..140624198)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (140622454..140678472)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_17665 Neighboring gene pleckstrin homology domain containing, family A member 5 Neighboring gene predicted gene 5051 Neighboring gene STARR-seq mESC enhancer starr_17672 Neighboring gene STARR-seq mESC enhancer starr_17677 Neighboring gene STARR-positive B cell enhancer mm9_chr6:140641102-140641403 Neighboring gene STARR-seq mESC enhancer starr_17678 Neighboring gene STARR-positive B cell enhancer ABC_E9107 Neighboring gene predicted gene, 30215 Neighboring gene ribosomal protein L38, pseudogene 2 Neighboring gene STARR-positive B cell enhancer mm9_chr6:140765370-140765671 Neighboring gene STARR-seq mESC enhancer starr_17681 Neighboring gene STARR-seq mESC enhancer starr_17683 Neighboring gene STARR-seq mESC enhancer starr_17684 Neighboring gene predicted gene, 30524 Neighboring gene ribosomal protein L11 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. AEBP2 as a potential targeting protein for Polycomb Repression Complex PRC2. Kim H, et al. Nucleic Acids Res, 2009 May. PMID 19293275, Free PMC Article
    2. Functional analysis of AEBP2, a PRC2 Polycomb protein, reveals a Trithorax phenotype in embryonic development and in ESCs. Grijzenhout A, et al. Development, 2016 Aug 1. PMID 27317809, Free PMC Article
    3. AEBP2 as a transcriptional activator and its role in cell migration. Kim H, et al. Genomics, 2015 Feb. PMID 25451679, Free PMC Article
    4. 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
    5. Toward a consensus on the binding specificity and promiscuity of PRC2 for RNA. Davidovich C, et al. Mol Cell, 2015 Feb 5. PMID 25601759, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 

    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

    Gene Ontology Provided by MGI

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coregulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ESC/E(Z) complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein AEBP2
    Names
    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_001005605.3 → NP_001005605.1  zinc finger protein AEBP2 isoform 1

      See identical proteins and their annotated locations for NP_001005605.1

      Status: VALIDATED

      Source sequence(s)
      AC133098, AEKQ02102408
      Consensus CDS
      CCDS20673.1
      UniProtKB/Swiss-Prot
      Q9Z248
      Related
      ENSMUSP00000084896.5, ENSMUST00000087614.11
      Conserved Domains (2) summary
      COG5048
      Location:210 → 332
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259 → 279
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001309436.2 → NP_001296365.1  zinc finger protein AEBP2 isoform 4

      See identical proteins and their annotated locations for NP_001296365.1

      Status: VALIDATED

      Source sequence(s)
      AC133098, AEKQ02102408
      Consensus CDS
      CCDS80631.1
      UniProtKB/TrEMBL
      A0AA74KSU7
      Related
      ENSMUSP00000125479.2, ENSMUST00000161335.8
      Conserved Domains (2) summary
      COG5048
      Location:3 → 110
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:37 → 57
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001309437.1 → NP_001296366.1  zinc finger protein AEBP2 isoform 4

      See identical proteins and their annotated locations for NP_001296366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, alternate 3' coding region and cause translation initiation at a downstream start codon, compared to variant 1. It encodes isoform 4 which has a shorter N-terminus and distinct C-terminus, compared to isoform 1. Both variants 4 and 5 encode the same protein (isoform 4).
      Source sequence(s)
      AC133098, AK045838
      Consensus CDS
      CCDS80631.1
      UniProtKB/TrEMBL
      A0AA74KSU7
      Related
      ENSMUSP00000124148.2, ENSMUST00000160836.8
      Conserved Domains (2) summary
      COG5048
      Location:3 → 110
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:37 → 57
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_009637.5 → NP_033767.2  zinc finger protein AEBP2 isoform 3

      See identical proteins and their annotated locations for NP_033767.2

      Status: VALIDATED

      Source sequence(s)
      AC133098, AEKQ02102408
      Consensus CDS
      CCDS39689.2
      UniProtKB/Swiss-Prot
      Q6PF91, Q78HB0, Q8BGV1, Q8CE51, Q9Z248
      Related
      ENSMUSP00000092993.6, ENSMUST00000095350.12
      Conserved Domains (3) summary
      COG5048
      Location:210 → 332
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259 → 279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:308 → 334
      zf-H2C2_2; Zinc-finger double domain

    5. NM_178803.3 → NP_848918.1  zinc finger protein AEBP2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC133098, AEKQ02102408
      Consensus CDS
      CCDS20674.1
      UniProtKB/TrEMBL
      A0AA74KSU7
      Related
      ENSMUSP00000032359.9, ENSMUST00000032359.15
      Conserved Domains (2) summary
      COG5048
      Location:3 → 110
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:37 → 57
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      140567480..140624198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506909.4 → XP_006506972.1  zinc finger protein AEBP2 isoform X3

      See identical proteins and their annotated locations for XP_006506972.1

      UniProtKB/TrEMBL
      A0AA74KSU7
      Conserved Domains (2) summary
      COG5048
      Location:3 → 110
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:37 → 57
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_006506905.3 → XP_006506968.1  zinc finger protein AEBP2 isoform X1

      Conserved Domains (3) summary
      COG5048
      Location:210 → 332
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259 → 279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:308 → 334
      zf-H2C2_2; Zinc-finger double domain

    3. XM_006506906.1 → XP_006506969.1  zinc finger protein AEBP2 isoform X2

      See identical proteins and their annotated locations for XP_006506969.1

      UniProtKB/Swiss-Prot
      Q9Z248
      Related
      ENSMUSP00000123897.4, ENSMUST00000162903.8
      Conserved Domains (2) summary
      COG5048
      Location:210 → 332
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259 → 279
      ZF_C2H2; C2H2 Zn finger [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z248.2 GenPept UniProtKB/Swiss-Prot:Q9Z248

    Gene LinkOut

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