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    TFAP2B transcription factor AP-2 beta [ Homo sapiens (human) ]

    Gene ID: 7021, updated on 11-Sep-2016
    Official Symbol
    TFAP2Bprovided by HGNC
    Official Full Name
    transcription factor AP-2 betaprovided by HGNC
    Primary source
    HGNC:HGNC:11743
    See related
    Ensembl:ENSG00000008196 HPRD:03360; MIM:601601; Vega:OTTHUMG00000014836
    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
    PDA2; AP-2B; AP2-B
    Summary
    This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    6p12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (50817692..50847619)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (50786439..50815326)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transcription factor AP-2 delta Neighboring gene uncharacterized LOC105375084 Neighboring gene ribosomal protein S17 pseudogene 5 Neighboring gene transportin 3 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Char syndrome
    MedGen: C1868570 OMIM: 169100 GeneReviews: Char Syndrome
    Compare labs
    Patent ductus arteriosus 2
    MedGen: CN237398 OMIM: 617035 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-08-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-08-13)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    NHGRI GWA Catalog
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    NHGRI GWA Catalog
    Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Genome-wide population-based association study of extremely overweight young adults--the GOYA study.
    NHGRI GWA Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC21381

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase II core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine-type endopeptidase inhibitor activity involved in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enhancer 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 heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, RNA polymerase II core promoter sequence-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular ammonia homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular creatinine homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular urea homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    collecting duct development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    distal tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ductus arteriosus closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    forelimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hindlimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    magnesium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metanephric nephron development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    phosphate ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron apoptotic process 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of urine volume ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    potassium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    renal water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    retina layer formation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    skin development IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcription factor AP-2-beta
    Names
    AP2-beta
    activating enhancer binding protein 2 beta
    transcription factor AP-2 beta (activating enhancer binding protein 2 beta)

    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_008438.1 RefSeqGene

      Range
      5001..33888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003221.3NP_003212.2  transcription factor AP-2-beta

      See identical proteins and their annotated locations for NP_003212.2

      Status: REVIEWED

      Source sequence(s)
      AL049693, AU141084, BC037225, BU738725
      Consensus CDS
      CCDS4934.2
      UniProtKB/Swiss-Prot
      Q92481
      Related
      ENSP00000377265, OTTHUMP00000016595, ENST00000393655, OTTHUMT00000040886
      Conserved Domains (1) summary
      pfam03299
      Location:228426
      TF_AP-2; Transcription factor AP-2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      50817692..50847619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011233.1XP_016866722.1  

    2. XM_017011234.1XP_016866723.1  

    3. XM_011514837.2XP_011513139.1  

      See identical proteins and their annotated locations for XP_011513139.1

      UniProtKB/Swiss-Prot
      Q92481
      Conserved Domains (1) summary
      pfam03299
      Location:237435
      TF_AP-2; Transcription factor AP-2
    4. XM_017011235.1XP_016866724.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      50789288..50818174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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