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    TFAP2A transcription factor AP-2 alpha [ Homo sapiens (human) ]

    Gene ID: 7020, updated on 7-Jan-2024

    Summary

    Official Symbol
    TFAP2Aprovided by HGNC
    Official Full Name
    transcription factor AP-2 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:11742
    See related
    Ensembl:ENSG00000137203 MIM:107580; AllianceGenome:HGNC:11742
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AP-2; BOFS; AP2TF; TFAP2; AP-2alpha
    Summary
    The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
    Expression
    Biased expression in skin (RPKM 17.3), placenta (RPKM 12.3) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TFAP2A in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10396677..10419659, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10264407..10287386, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10396910..10419892, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RPL7L1 pseudogene 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10390646-10391250 Neighboring gene uncharacterized LOC124901485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10399255-10399797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10399798-10400339 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476 Neighboring gene TFAP2A antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10414531-10415188 Neighboring gene TFAP2A antisense RNA 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:10415189-10415848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10416507-10417164 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:10417165-10417822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10419141-10419798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16901 Neighboring gene uncharacterized LOC107986564 Neighboring gene long intergenic non-protein coding RNA 518 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:10433906-10435105 Neighboring gene MIR5689 host gene Neighboring gene microRNA 5689

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Anophthalmia-microphthalmia syndrome
    MedGen: C5680330 GeneReviews: Not available
    Compare labs
    Branchiooculofacial syndrome
    MedGen: C0376524 OMIM: 113620 GeneReviews: Branchiooculofacial Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env c-FLIPL inhibits Bax activation via modulating PKC expression at the transcriptional level involving AP-2 during gp120 treatment PubMed
    Nef nef shRNA knockdown of TFAP2A (AP2) strongly impairs the capacity of Nef to downmodulate CD4 in primary CD4+ T cells and SupT1 T cells; Nef-mediated downmodulation of CD4 is enhanced by TFAP2A (AP2) 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

    • FLJ51761

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear receptor corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to iron ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic forelimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in eyelid development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 competitive promoter binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oculomotor nerve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in optic cup structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in optic vesicle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tooth mineralization 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 regulation of cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retina layer formation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in trigeminal nerve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    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
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor AP-2-alpha
    Names
    AP-2 transcription factor
    activating enhancer-binding protein 2-alpha
    activator protein 2
    transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

    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.

    Genomic

    1. NG_016151.1 RefSeqGene

      Range
      9491..27888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032280.3NP_001027451.1  transcription factor AP-2-alpha isoform b

      See identical proteins and their annotated locations for NP_001027451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AL138885, BC017754, X52611
      Consensus CDS
      CCDS34337.1
      UniProtKB/Swiss-Prot
      P05549, Q13777, Q5TAV5, Q8N1C6
      Related
      ENSP00000368928.3, ENST00000379608.9
      Conserved Domains (1) summary
      pfam03299
      Location:205399
      TF_AP-2; Transcription factor AP-2
    2. NM_001042425.3NP_001035890.1  transcription factor AP-2-alpha isoform c

      See identical proteins and their annotated locations for NP_001035890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AL138885, CB990517, X52611
      Consensus CDS
      CCDS43422.1
      UniProtKB/Swiss-Prot
      P05549, Q13777, Q5TAV5, Q8N1C6
      Related
      ENSP00000316516.4, ENST00000319516.8
      Conserved Domains (1) summary
      pfam03299
      Location:207401
      TF_AP-2; Transcription factor AP-2
    3. NM_001372066.1NP_001358995.1  transcription factor AP-2-alpha isoform a

      Status: REVIEWED

      Source sequence(s)
      AL138885, BM714893, X52611
      Consensus CDS
      CCDS4510.2
      UniProtKB/Swiss-Prot
      P05549, Q13777, Q5TAV5, Q8N1C6
      UniProtKB/TrEMBL
      A0A6E1XE14
      Related
      ENSP00000368933.5, ENST00000379613.10
      Conserved Domains (1) summary
      pfam03299
      Location:213407
      TF_AP-2; Transcription factor AP-2

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      10396677..10419659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10264407..10287386 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003220.3: Suppressed sequence

      Description
      NM_003220.3: This RefSeq was removed because currently there is support for the transcript but not for the protein