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    Tfap2a transcription factor AP-2, alpha [ Mus musculus (house mouse) ]

    Gene ID: 21418, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tfap2aprovided by MGI
    Official Full Name
    transcription factor AP-2, alphaprovided by MGI
    Primary source
    MGI:MGI:104671
    See related
    Ensembl:ENSMUSG00000021359 AllianceGenome:MGI:104671
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ap2; AP-2; Ap2tf; Tcfap2a; AP2alpha; Ap-2 (a)
    Summary
    This gene is a member of the activator protein 2 (AP-2) transcription factor family. The protein encoded by this gene can act as both an activator and repressor of gene transcription, and plays an important role in early embryogenesis, specifically in cranial development. This protein forms both homodimers and heterodimers, and binds to a GC-rich consensus sequence found in some promoters and enhancers. Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
    Expression
    Biased expression in limb E14.5 (RPKM 4.2), genital fat pad adult (RPKM 2.4) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Tfap2a in Genome Data Viewer
    Location:
    13 A3.3; 13 20.01 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (40867278..40891715, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (40713802..40738238, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S10 pseudogene Neighboring gene STARR-seq mESC enhancer starr_34273 Neighboring gene STARR-seq mESC enhancer starr_34274 Neighboring gene STARR-seq mESC enhancer starr_34275 Neighboring gene STARR-seq mESC enhancer starr_34276 Neighboring gene predicted gene 9979 Neighboring gene predicted gene, 26688 Neighboring gene UBX domain protein 2A pseudogene Neighboring gene STARR-seq mESC enhancer starr_34280 Neighboring gene STARR-seq mESC enhancer starr_34281 Neighboring gene oogenesin 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nuclear receptor corepressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior neuropore closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within basement membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to iron ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to iron ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cornea development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic body morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic camera-type eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within epidermis morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eyelid development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within keratinocyte development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in kidney development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within lens induction in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metanephric nephron development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by competitive promoter binding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by competitive promoter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nervous system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within neural crest cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in oculomotor nerve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic cup structural organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic vesicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of tooth mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of tooth mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to lipopolysaccharide ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in roof of mouth development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in roof of mouth development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory organ development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within skin development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within sympathetic nervous system development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in trigeminal nerve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription regulator complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor AP-2-alpha
    Names
    activating enhancer-binding protein 2 alpha
    activator 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_001122948.2NP_001116420.1  transcription factor AP-2-alpha isoform 3

      See identical proteins and their annotated locations for NP_001116420.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1a. The encoded isoform (3, PMID: 7750631) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC123834, AK053704, AK081627, AV233420, BB543575
      Consensus CDS
      CCDS49243.1
      UniProtKB/TrEMBL
      A0A0R4J1E6, Q8BPN4
      Related
      ENSMUSP00000021787.5, ENSMUST00000021787.7
      Conserved Domains (1) summary
      pfam03299
      Location:205399
      TF_AP-2; Transcription factor AP-2
    2. NM_001301674.2NP_001288603.2  transcription factor AP-2-alpha isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1b) differs in the 5' UTR compared to variant 1a. Both variants 1a and 1b encode the same isoform (1).
      Source sequence(s)
      AC123834, AK053704, AK081627, BC007471, BC018226
      Consensus CDS
      CCDS26467.1
      UniProtKB/TrEMBL
      A0A0R4J1E6, A0A286YDR3
      Related
      ENSMUSP00000153522.2, ENSMUST00000224999.2
      Conserved Domains (1) summary
      pfam03299
      Location:213407
      TF_AP-2; Transcription factor AP-2
    3. NM_011547.5NP_035677.3  transcription factor AP-2-alpha isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1a) represents the shortest transcript and encodes the longer isoform (1, PMID: 7750631). Both variants 1a and 1b encode the same isoform (1).
      Source sequence(s)
      AC123834, AK140956, BC007471
      Consensus CDS
      CCDS26467.1
      UniProtKB/TrEMBL
      A0A0R4J1E6, A0A286YDR3
      Related
      ENSMUSP00000105822.3, ENSMUST00000110193.9
      Conserved Domains (1) summary
      pfam03299
      Location:213407
      TF_AP-2; Transcription factor AP-2

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      40867278..40891715 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516902.5XP_006516965.1  transcription factor AP-2-alpha isoform X3

      See identical proteins and their annotated locations for XP_006516965.1

      UniProtKB/TrEMBL
      A0A0R4J1E6, A0A286YCU0
      Related
      ENSMUSP00000153149.2, ENSMUST00000223869.2
      Conserved Domains (1) summary
      pfam03299
      Location:207401
      TF_AP-2; Transcription factor AP-2
    2. XM_006516903.5XP_006516966.1  transcription factor AP-2-alpha isoform X4

      UniProtKB/TrEMBL
      A0A0R4J1E6
      Conserved Domains (1) summary
      pfam03299
      Location:197391
      TF_AP-2; Transcription factor AP-2
    3. XM_017315479.3XP_017170968.1  transcription factor AP-2-alpha isoform X2

      UniProtKB/TrEMBL
      A0A0R4J1E6, A0A286YD43
      Related
      ENSMUSP00000153271.2, ENSMUST00000225180.2
      Conserved Domains (1) summary
      pfam03299
      Location:240434
      TF_AP-2; Transcription factor AP-2
    4. XM_030247224.1XP_030103084.1  transcription factor AP-2-alpha isoform X1

      UniProtKB/TrEMBL
      A0A0R4J1E6
      Conserved Domains (1) summary
      pfam03299
      Location:256450
      TF_AP-2; Transcription factor AP-2