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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
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    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

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 26
    Function Evidence Code Pubs
    enables DNA binding  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific  
    enables DNA-binding transcription factor activity PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding PubMed 
    enables chromatin binding PubMed 
    enables cis-regulatory region sequence-specific DNA binding PubMed 
    enables identical protein binding  
    enables nuclear receptor corepressor activity  
    enables protein binding PubMed 
    enables sequence-specific DNA binding  
    enables sequence-specific double-stranded DNA binding  
    enables transcription cis-regulatory region binding  
    enables transcription cis-regulatory region binding  
    enables transcription coactivator activity PubMed 
    enables transcription corepressor activity PubMed 
    Items 1 - 25 of 26
    Items 1 - 25 of 85
    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior neuropore closure PubMed 
    acts_upstream_of_or_within basement membrane organization PubMed 
    involved_in bone morphogenesis PubMed 
    acts_upstream_of cell population proliferation PubMed 
    involved_in cellular response to iron ion  
    involved_in cellular response to iron ion  
    acts_upstream_of_or_within cornea development in camera-type eye PubMed 
    acts_upstream_of_or_within embryonic body morphogenesis PubMed 
    acts_upstream_of_or_within embryonic camera-type eye morphogenesis PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis PubMed 
    involved_in embryonic cranial skeleton morphogenesis PubMed 
    involved_in embryonic forelimb morphogenesis PubMed 
    acts_upstream_of_or_within embryonic pattern specification PubMed 
    acts_upstream_of epidermal growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within epidermis morphogenesis PubMed 
    involved_in eyelid development in camera-type eye PubMed 
    acts_upstream_of_or_within face morphogenesis PubMed 
    acts_upstream_of fibroblast migration PubMed 
    acts_upstream_of_or_within forebrain neuron development PubMed 
    acts_upstream_of_or_within forelimb morphogenesis PubMed 
    involved_in inner ear morphogenesis  
    involved_in inner ear morphogenesis  
    acts_upstream_of_or_within keratinocyte development PubMed 
    involved_in kidney development  
    involved_in kidney development  
    involved_in kidney development  
    acts_upstream_of_or_within lens induction in camera-type eye PubMed 
    acts_upstream_of_or_within lens morphogenesis in camera-type eye PubMed 
    involved_in metanephric nephron development PubMed 
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of apoptotic process  
    acts_upstream_of_or_within negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of cell population proliferation  
    acts_upstream_of_or_within negative regulation of epidermal growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within negative regulation of neuron apoptotic process PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process  
    involved_in negative regulation of reactive oxygen species metabolic process  
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in negative regulation of transcription by competitive promoter binding  
    involved_in negative regulation of transcription by competitive promoter binding  
    involved_in nervous system development  
    involved_in nervous system development PubMed 
    acts_upstream_of_or_within neural crest cell development PubMed 
    acts_upstream_of_or_within neural tube closure PubMed 
    acts_upstream_of neuron apoptotic process PubMed 
    involved_in oculomotor nerve formation PubMed 
    involved_in optic cup structural organization PubMed 
    involved_in optic vesicle morphogenesis PubMed 
    acts_upstream_of_or_within outflow tract morphogenesis PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of bone mineralization  
    involved_in positive regulation of bone mineralization  
    acts_upstream_of_or_within positive regulation of fibroblast migration PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of neuron apoptotic process  
    involved_in positive regulation of tooth mineralization  
    involved_in positive regulation of tooth mineralization  
    involved_in positive regulation of transcription by RNA polymerase II  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    acts_upstream_of_or_within regulation of DNA-templated transcription PubMed 
    involved_in regulation of cell differentiation  
    involved_in regulation of cell population proliferation  
    acts_upstream_of_or_within regulation of neuron differentiation PubMed 
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II PubMed 
    involved_in response to lipopolysaccharide  
    involved_in roof of mouth development  
    involved_in roof of mouth development  
    involved_in sensory organ development PubMed 
    involved_in sensory perception of sound  
    involved_in sensory perception of sound  
    involved_in skeletal system development  
    acts_upstream_of_or_within skeletal system morphogenesis PubMed 
    involved_in skin development PubMed 
    acts_upstream_of_or_within skin development PubMed 
    acts_upstream_of_or_within sympathetic nervous system development PubMed 
    acts_upstream_of transcription by RNA polymerase II PubMed 
    involved_in trigeminal nerve development PubMed 
    Items 1 - 25 of 85
    Component Evidence Code Pubs
    located_in clathrin-coated pit PubMed 
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus  
    part_of transcription regulator complex 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
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