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

    Gene ID: 7021, updated on 17-Jun-2024

    Summary

    Official Symbol
    TFAP2Bprovided by HGNC
    Official Full Name
    transcription factor AP-2 betaprovided by HGNC
    Primary source
    HGNC:HGNC:11743
    See related
    Ensembl:ENSG00000008196 MIM:601601; AllianceGenome:HGNC:11743
    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; AP-2beta
    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]
    Expression
    Biased expression in kidney (RPKM 3.0), skin (RPKM 2.7) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TFAP2B in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (50818355..50847619)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (50660443..50690369)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (50786584..50815332)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:50682973-50683503 Neighboring gene VISTA enhancer hs865 Neighboring gene Sharpr-MPRA regulatory region 1859 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:50691426-50692118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50692119-50692809 Neighboring gene transcription factor AP-2 delta Neighboring gene MPRA-validated peak5845 silencer Neighboring gene uncharacterized LOC105375084 Neighboring gene uncharacterized LOC124901490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:50791385-50791912 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:50791978-50792107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50793064-50793564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50793565-50794065 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:50810267-50810772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50816733-50817234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:50817235-50817734 Neighboring gene ribosomal protein S17 pseudogene 5 Neighboring gene TNPO3 pseudogene 2

    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
    Char syndrome
    MedGen: C1868570 OMIM: 169100 GeneReviews: Char Syndrome
    Compare labs
    Patent ductus arteriosus 2
    MedGen: C4284595 OMIM: 617035 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-04-11)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-04-11)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC21381

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    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 activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity 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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA 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 aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in collecting duct development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in distal tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ductus arteriosus closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in forelimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hindlimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric nephron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_negative_effect negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process 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 BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina layer formation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    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 IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor AP-2-beta
    Names
    AP2-beta
    activating enhancer binding protein 2 beta

    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_008438.1 RefSeqGene

      Range
      5146..33894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003221.4NP_003212.2  transcription factor AP-2-beta

      See identical proteins and their annotated locations for NP_003212.2

      Status: REVIEWED

      Source sequence(s)
      AL049693, BC037225, BU738725
      Consensus CDS
      CCDS4934.2
      UniProtKB/Swiss-Prot
      Q5JYX6, Q92481, Q9NQ63, Q9NU99, Q9UJI7, Q9Y214, Q9Y3K3
      UniProtKB/TrEMBL
      B2R9E2
      Related
      ENSP00000377265.2, ENST00000393655.4
      Conserved Domains (1) summary
      pfam03299
      Location:230424
      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
      50818355..50847619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011233.2XP_016866722.1  transcription factor AP-2-beta isoform X1

      UniProtKB/TrEMBL
      B2R9E2
    2. XM_017011234.2XP_016866723.1  transcription factor AP-2-beta isoform X2

      UniProtKB/TrEMBL
      B2R9E2
    3. XM_011514837.3XP_011513139.1  transcription factor AP-2-beta isoform X3

      See identical proteins and their annotated locations for XP_011513139.1

      UniProtKB/TrEMBL
      B2R9E2
      Conserved Domains (1) summary
      pfam03299
      Location:239433
      TF_AP-2; Transcription factor AP-2
    4. XM_017011235.3XP_016866724.1  transcription factor AP-2-beta isoform X4

    RNA

    1. XR_007059334.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      50660443..50690369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356281.1XP_054212256.1  transcription factor AP-2-beta isoform X1

      UniProtKB/TrEMBL
      B2R9E2
    2. XM_054356282.1XP_054212257.1  transcription factor AP-2-beta isoform X2

      UniProtKB/TrEMBL
      B2R9E2
    3. XM_054356283.1XP_054212258.1  transcription factor AP-2-beta isoform X3

      UniProtKB/TrEMBL
      B2R9E2
    4. XM_054356284.1XP_054212259.1  transcription factor AP-2-beta isoform X4

    RNA

    1. XR_008487432.1 RNA Sequence