ZFIN ID: ZDB-GENE-011212-6
Gene Name: transcription factor AP-2 alpha
Gene Symbol: tfap2a    Nomenclature History

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Previous Names: ap2 (1), ap2a (1), cb93 (1), fb83f04, fc31a07 (1), lockjaw, low, mob (1), mont blanc (1), wu:fb83f04 (1), wu:fc31a07 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 24 Mapping Details/Browsers
Description: Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ development; iridophore differentiation; and nervous system development. Localizes to the nucleus. Human ortholog(s) of this gene implicated in branchiooculofacial syndrome. Is expressed in several structures, including ectoderm; mesenchyme; nervous system; neural crest; and neural tube. Orthologous to human TFAP2A (transcription factor AP-2 alpha).
Genome Resources: Alliance (1),  Gene:140618 (1),  Ensembl(GRCz11):ENSDARG00000059279 (2)
GENE EXPRESSION
All Expression Data: 67 figures from 47 publications
Directly Submitted Expression Data: 6 figures (24 images) from Rauch et al., 2003 [fb83f04]
  6 figures (19 images) from Thisse et al., 2001 [cb93]
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Larval:Days 7-13 (168.0h-14d, 4.5mm, 8 teeth)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
m610 Point Mutation Unknown Cryptic Acceptor Splice Site, Frameshift, Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • m780 Point Mutation Unknown Cryptic Acceptor Splice Site, Frameshift, Premature Stop ENU
    m819 Point Mutation Exon 5 Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • nt30 Point Mutation Donor Splice Site of Exon 1 Splicing Variant, Premature Stop ENU
    sa24445 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tfap2a_unspecified Unspecified Unknown Unknown
    ts213 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-tfap2a N/A 1
    MO2-tfap2a N/A 5
    MO3-tfap2a N/A 11
    MO4-tfap2a N/A 12
    PHENOTYPE
    Data: 37 figures from 14 publications
    Observed in:
    DISEASE ASSOCIATED WITH tfap2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    branchiooculofacial syndrome Alliance Branchiooculofacial syndrome 113620
    DISEASE ASSOCIATED WITH tfap2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process regulation of transcription, DNA-templated (more)
    Cellular Component nucleus (more)
    Molecular Function DNA-binding transcription factor activity (more)
    GO Terms (all 25)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR008121 Transcription factor AP-2 alpha, N-terminal
    Domain IPR013854 Transcription factor AP-2, C-terminal
    Family IPR004979 Transcription factor AP-2
    TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-tfap2a polyclonal IgG Rabbit IHC AnaSpec
    2
    Ab2-tfap2a polyclonal Goat IHC LifeSpan BioSciences, Inc.
    3
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM tfap2a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(hsp70l:tfap2a) hsp70l tfap2a Danio rerio 1 4
    MARKER RELATIONSHIPS
    tfap2a Contains: [SNP] rs3729319 (1), rs3729320 (1), rs3729321 (1)
    tfap2a Encodes: [EST] cb93 (1) (order this), fb83f04 (1) (order this), fc31a07 (1)
    [cDNA] MGC:73067 (1), MGC:76915 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_176859 (1) 2506 nt
    Genomic GenBank:LO018137 (1)
    Polypeptide UniProtKB:A0A2R8QRQ5 (1) 450 aa
    Sequence Information (all 40)
    ORTHOLOGY for tfap2a ( Chr: 24 )
    CITATIONS (130)