Tfap2a
Gene Detail

Symbol Name ID

Tfap2a transcription factor AP-2, alpha MGI:104671

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 VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2421  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Tfap2a

Human homologs

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; chr6:10396916-10419797 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TFAP2A

Alleles and phenotypes

All alleles(7) : Targeted(6) Chemically induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (96 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

Expression

Literature Summary: (158 records)
Data Summary: Results (515)    Tissues (300)    Images (76)
Theiler Stages: 2, 3, 4, 5, 11, 12, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	13
RNA in situ	355
In situ reporter (knock in)	2
Northern blot	1
Western blot	2
RT-PCR	113
RNase protection	29

cDNA source data(50)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(83) Genomic(3) cDNA(57) Primer pair(22) Other(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000021359 (Evidence)
Entrez Gene	21418 (Evidence)
UniGene	85544
DFCI	TC1582950, TC1588477, TC1599545, TC1633802, TC1672015
DoTS	DT.101210954, DT.101266492, DT.523585, DT.91338934, DT.99805203
NIA Mouse Gene Index	U034706
Consensus CDS Project	CCDS26467.1, CCDS49243.1
International Mouse Knockout Project Status	Tfap2a

Sequences

Length	Strain/Species
genomic	21418	NCBI Gene Model | MGI Sequence Detail	18149	C57BL/6J
transcript	NM_001122948	RefSeq | MGI Sequence Detail	3114	C57BL/6
polypeptide	P34056	UniProt | EBI | MGI Sequence Detail	437	Not Applicable

All sequences(45) RefSeq(4) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(25 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193107 Jin C, et al., Deciphering gene expression program of MAP3K1 in mouse eyelid morphogenesis. Dev Biol. 2013 Feb 1;374(1):96-107
All references(227)

Other accession IDs

MGD-MRK-1346, MGD-MRK-27034