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

    Gene ID: 7020, updated on 9-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See TFAP2A in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10396677..10419659, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10264407..10287386, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. Aliferis K, et al. Ophthalmic Genet, 2011 Nov. PMID 21728810
    2. Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population. Nguyen DM, et al. Mol Genet Genomic Med, 2021 Sep. PMID 34310873, Free PMC Article
    3. AP-2α inhibits hepatocellular carcinoma cell growth and migration. Huang W, et al. Int J Oncol, 2016 Mar. PMID 26780928
    4. Transcription factor AP-2α promotes EGF-dependent invasion of human trophoblast. Biadasiewicz K, et al. Endocrinology, 2011 Apr. PMID 21303946
    5. Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins. Donner AL, et al. Dev Dyn, 2006 May. PMID 16502414, Free PMC Article

    See all (293) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AP-2alpha decreases TMZ resistance of recurrent GBM by downregulating MGMT expression and improving DNA damage.
      Title: AP-2α decreases TMZ resistance of recurrent GBM by downregulating MGMT expression and improving DNA damage.
    2. The Aryl Hydrocarbon Receptor Regulates Epidermal Differentiation through Transient Activation of TFAP2A.
      Title: The Aryl Hydrocarbon Receptor Regulates Epidermal Differentiation through Transient Activation of TFAP2A.
    3. TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote Lung Adenocarcinoma Metastasis.
      Title: TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote Lung Adenocarcinoma Metastasis.
    4. AP-2alpha/AP-2beta Transcription Factors Are Key Regulators of Epidermal Homeostasis.
      Title: AP-2α/AP-2β Transcription Factors Are Key Regulators of Epidermal Homeostasis.
    5. TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription.
      Title: TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription.
    6. Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2.
      Title: Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2.
    7. Tyrosine phosphorylation-mediated YAP1-TFAP2A interactions coordinate transcription and trastuzumab resistance in HER2+ breast cancer.
      Title: Tyrosine phosphorylation-mediated YAP1-TFAP2A interactions coordinate transcription and trastuzumab resistance in HER2+ breast cancer.
    8. Potential prognosis and immunotherapy predictor TFAP2A in pan-cancer.
      Title: Potential prognosis and immunotherapy predictor TFAP2A in pan-cancer.
    9. TFAP2A activates HMGA1 to promote glycolysis and lung adenocarcinoma progression.
      Title: TFAP2A activates HMGA1 to promote glycolysis and lung adenocarcinoma progression.
    10. Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors.
      Title: Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors.
    Submit: New GeneRIF Correction See all GeneRIFs (181)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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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

    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 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 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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in trigeminal nerve development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in 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

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    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)

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    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_001032280.3 → NP_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:205 → 399
      TF_AP-2; Transcription factor AP-2

    2. NM_001042425.3 → NP_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:207 → 401
      TF_AP-2; Transcription factor AP-2

    3. NM_001372066.1 → NP_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:213 → 407
      TF_AP-2; Transcription factor AP-2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05549.1 GenPept UniProtKB/Swiss-Prot:P05549

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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