Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) [ Homo sapiens (human) ]

    Gene ID: 7020, updated on 30-Jun-2015
    Official Symbol
    TFAP2Aprovided by HGNC
    Official Full Name
    transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)provided by HGNC
    Primary source
    HGNC:HGNC:11742
    See related
    Ensembl:ENSG00000137203; HPRD:00128; MIM:107580; Vega:OTTHUMG00000014235
    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]
    Orthologs
    See TFAP2A in Epigenomics, MapViewer
    Location:
    6p24
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (10396677..10419624, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10393419..10419797, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374921 Neighboring gene ribosomal protein L7-like 1 pseudogene Neighboring gene TFAP2A antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 518 Neighboring gene microRNA 5689

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Branchiooculofacial syndrome
    MedGen: C0376524 OMIM: 113620 GeneReviews: Branchiooculofacial Syndrome
    Compare labs

    NHGRI GWAS Catalog

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

    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

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ51761

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding RNA polymerase II transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Schwann cell development IEA
    Inferred from Electronic Annotation
    more info
     
    bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to iron ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic forelimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    eyelid development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription by competitive promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription by competitive promoter binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oculomotor nerve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    optic cup structural organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    optic vesicle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tooth mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to water deprivation IEA
    Inferred from Electronic Annotation
    more info
     
    retina layer formation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trigeminal nerve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    transcription factor AP-2-alpha
    Names
    AP-2 transcription factor
    AP2-alpha
    activating enhancer-binding protein 2-alpha
    activator protein 2

    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
      5001..27882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032280.2NP_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
      Conserved Domains (1) summary
      pfam03299
      Location:203408
      TF_AP-2; Transcription factor AP-2
    2. NM_001042425.1NP_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
      Conserved Domains (1) summary
      pfam03299
      Location:205410
      TF_AP-2; Transcription factor AP-2
    3. NM_003220.2NP_003211.1  transcription factor AP-2-alpha isoform a

      See identical proteins and their annotated locations for NP_003211.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL138885, X52611
      Consensus CDS
      CCDS4510.1
      UniProtKB/Swiss-Prot
      P05549
      Related
      ENSP00000368933, OTTHUMP00000016011, ENST00000379613, OTTHUMT00000039815
      Conserved Domains (1) summary
      pfam03299
      Location:209414
      TF_AP-2; Transcription factor AP-2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      10396677..10419624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514833.1XP_011513135.1  

      See identical proteins and their annotated locations for XP_011513135.1

      Conserved Domains (1) summary
      pfam03299
      Location:159364
      TF_AP-2; Transcription factor AP-2
    2. XM_006715175.2XP_006715238.1  

      Conserved Domains (1) summary
      pfam03299
      Location:254459
      TF_AP-2; Transcription factor AP-2

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      10399160..10422046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)