Gene

Tfap2a

Species
Mus musculus
Symbol
Tfap2a
Name
transcription factor AP-2, alpha
Synonyms
  • Ap-2 (a)
  • AP-2 alpha
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription coregulator activity. Involved in several processes, including cranial nerve development; embryonic morphogenesis; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including camera-type eye development; face morphogenesis; and nervous system development. Located in clathrin-coated pit and nucleus. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; jaw; and sensory organ. Used to study orofacial cleft. Human ortholog(s) of this gene implicated in branchiooculofacial syndrome. Orthologous to human TFAP2A (transcription factor AP-2 alpha).
MGI Description
PHENOTYPE: Homozygous null mutants die perinatally with anencephaly, craniofacial and neural tube defects, thoraco-abdominoschisis and defects in sensory organs, cranial ganglia, skeleton, and heart. On some genetic backgrounds, heterozygotes may exhibit exencephaly. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10812
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Tfap2a molecule type
          Interactor gene
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            Genetic Interactions

            Tfap2a role
            Tfap2a genetic perturbation
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