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Gene Detail
transcription factor AP-2, alpha
Synonyms Ap2, Ap-2 (a), AP2alpha, AP-2 alpha, Ap2tf, Tcfap2a
Feature Type protein coding gene
Genetic Map
Chromosome 13
20.01 cM, cytoband A5-B1
Detailed Genetic Map ± 1 cM

Mapping data(5)
Sequence Map
Chr13:40715675-40733823 bp, - strand
From NCBI annotation of GRCm38

  18149 bp   ±  kb flank

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Mouse Genome Browser
HomoloGene:2421  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Tfap2a

Human Homolog TFAP2A, transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
NCBI Gene ID 7020
neXtProt AC  NX_P05549
Human Synonyms  AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
Human Chr (Location)  6p24; chr6:10396677-10419564 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human TFAP2A
alleles, and
All mutations/alleles(8) : Chemically induced (ENU)(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
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.
Phenotype Images(2)
Tfap2a interacts with 257 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
All GO classifications: (99 annotations)
Process anterior neuropore closure, basement membrane organization, ...
Component centrosome, cytoplasm, ...
Function chromatin binding, core promoter proximal region sequence-specific DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Literature Summary: (171 records)
Data Summary: Results (592)    Tissues (305)    Images (93)
Theiler Stages: 2, 3, 4, 5, 11, 12, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 15
RNA in situ 415
In situ reporter (knock in) 2
Northern blot 1
Western blot 2
RT-PCR 103
RNase protection 54
cDNA source data(38)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(75) Genomic(3) cDNA(45) Primer pair(26) Other(1)
Microarray probesets(4)
Other database
Ensembl Gene ModelENSMUSG00000021359 (Evidence)
Entrez Gene21418 (Evidence)
DFCITC1582950, TC1588477, TC1599545, TC1633802, TC1672015, TC1729177
DoTSDT.101210954, DT.101266492, DT.523585, DT.91338934, DT.99805203
NIA Mouse Gene IndexU034706
Consensus CDS ProjectCCDS26467.1, CCDS49243.1
International Mouse Knockout Project StatusTfap2a
Representative SequencesLengthStrain/SpeciesFlank
genomic 21418 NCBI Gene Model | MGI Sequence Detail 18149 C57BL/6J ±  kb
transcript NM_001122948 RefSeq | MGI Sequence Detail 3500 C57BL/6 
polypeptide P34056 UniProt | EBI | MGI Sequence Detail 437 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(14) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(43 from dbSNP Build 137)
InterPro IPR004979 Transcription factor AP-2
InterPro IPR008121 Transcription factor AP-2 alpha, N-terminal
InterPro IPR013854 Transcription factor AP-2, C-terminal
Protein Ontology PR:000016263 transcription factor AP-2-alpha
Graphical View of Protein Domain Structure
References (Earliest) J:15697 Mitchell PJ, et al., Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis. Genes Dev. 1991 Jan;5(1):105-19
(Latest) J:209623 Kurosaka H, et al., Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis. J Clin Invest. 2014 Apr 1;124(4):1660-71
All references(240)
accession IDs
MGD-MRK-1346, MGD-MRK-27034

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory