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Aliases for TFAP2A Gene

Aliases for TFAP2A Gene

  • Transcription Factor AP-2 Alpha 2 3 5
  • Transcription Factor AP-2 Alpha (Activating Enhancer Binding Protein 2 Alpha) 2 3
  • Activating Enhancer-Binding Protein 2-Alpha 3 4
  • AP-2 Transcription Factor 3 4
  • Activator Protein 2 3 4
  • AP2-ALPHA 3 4
  • AP2TF 3 4
  • TFAP2 3 4
  • AP-2 3 4
  • Transcription Factor AP-2 Alpha (Activating Enhancer-Binding Protein 2 Alpha) 2
  • Transcription Factor AP-2-Alpha 3
  • AP-2alpha 3
  • BOFS 3

External Ids for TFAP2A Gene

Previous HGNC Symbols for TFAP2A Gene

  • TFAP2
  • AP2TF

Previous GeneCards Identifiers for TFAP2A Gene

  • GC06M010455
  • GC06M010506
  • GC06M010503
  • GC06M010272

Summaries for TFAP2A Gene

Entrez Gene Summary for TFAP2A Gene

  • The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

GeneCards Summary for TFAP2A Gene

TFAP2A (Transcription Factor AP-2 Alpha) is a Protein Coding gene. Diseases associated with TFAP2A include Branchiooculofacial Syndrome and Ectopic Thymus. Among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Gene Expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is TFAP2B.

UniProtKB/Swiss-Prot for TFAP2A Gene

  • Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5-GCCNNNGGC-3 and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.

Gene Wiki entry for TFAP2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFAP2A Gene

Genomics for TFAP2A Gene

Regulatory Elements for TFAP2A Gene

Enhancers for TFAP2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F010382 1.2 FANTOM5 Ensembl ENCODE 18.9 +36.2 36210 2.7 TBP TAF1 SUZ12 MAX ZKSCAN1 E2F1 POLR2A MAFK E2F6 EZH2 TFAP2A TFAP2A-AS1 ENSG00000228478 LOC442161
GH06F010449 0.8 Ensembl ENCODE 11.4 -32.2 -32168 4.2 TBP ATF1 SIN3A RAD21 RFX5 RCOR1 FOS CREM EGR2 SMARCC1 ENSG00000228478 TFAP2A TFAP2A-AS1 GCNT2 MRPL48P1 MIR5689
GH06F010398 2.4 VISTA FANTOM5 Ensembl ENCODE 8.8 +9.8 9765 22.9 CREB3L1 FEZF1 ZNF143 ZNF548 ZNF263 SP3 MEF2D ZNF610 GLIS1 NBN RNA5SP203 TMEM14C ERVFRD-1 TFAP2A PAK1IP1 TMEM14B C6orf52 TFAP2A-AS1
GH06F010440 1 FANTOM5 Ensembl ENCODE 6.5 -22.1 -22097 1.9 TBP MXI1 PKNOX1 TAF1 JUN MAX SIN3A CEBPG RAD21 FOSL1 TFAP2A TMEM14C TMEM14B PAK1IP1 GCNT2 MIR5689 MRPL48P1
GH06F010309 2.2 FANTOM5 Ensembl ENCODE 5.1 +106.3 106304 8.5 PKNOX1 CREB3L1 FEZF1 ZNF2 YY1 ZNF766 FOS DEK SP3 ZHX2 TFAP2A PAK1IP1 LOC105374920 GC06M010217
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TFAP2A on UCSC Golden Path with GeneCards custom track

Genomic Location for TFAP2A Gene

Chromosome:
6
Start:
10,393,186 bp from pter
End:
10,419,659 bp from pter
Size:
26,474 bases
Orientation:
Minus strand

Genomic View for TFAP2A Gene

Genes around TFAP2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAP2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFAP2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAP2A Gene

Proteins for TFAP2A Gene

  • Protein details for TFAP2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05549-AP2A_HUMAN
    Recommended name:
    Transcription factor AP-2-alpha
    Protein Accession:
    P05549
    Secondary Accessions:
    • Q13777
    • Q5TAV5
    • Q8N1C6

    Protein attributes for TFAP2A Gene

    Size:
    437 amino acids
    Molecular mass:
    48062 Da
    Quaternary structure:
    • Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with RALBP1 in a complex also containing EPN1 and NUMB during interphase and mitosis. Interacts with KCTD1; this interaction represses transcription activation. Interacts (via C-terminus) with CITED2 (via C-terminus); the interaction stimulates TFAP2A-transcriptional activation. Interacts (via N-terminus) with EP300 (via N-terminus); the interaction requires CITED2. Interacts with KCTD15; this interaction inhibits TFAP2A transcriptional activation.

    Alternative splice isoforms for TFAP2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFAP2A Gene

Post-translational modifications for TFAP2A Gene

  • Sumoylated on Lys-10; which inhibits transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TFAP2A Gene

Domains & Families for TFAP2A Gene

Graphical View of Domain Structure for InterPro Entry

P05549

UniProtKB/Swiss-Prot:

AP2A_HUMAN :
  • The WW-binding motif mediates interaction with WWOX.
  • Belongs to the AP-2 family.
Domain:
  • The WW-binding motif mediates interaction with WWOX.
Family:
  • Belongs to the AP-2 family.
genes like me logo Genes that share domains with TFAP2A: view

No data available for Gene Families for TFAP2A Gene

Function for TFAP2A Gene

Molecular function for TFAP2A Gene

GENATLAS Biochemistry:
transcription factor 2,AP-2 alpha,retinoic acid responsive gene,52 kDa,regulating the expression of genes required for development of tissues of ectodermal origin,activating CDKN1A (WAF1) and other genes such as MCAM,MMP2,involved in the progression of human melanoma and potentially involved in anterior eye chamber development
UniProtKB/Swiss-Prot Function:
Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5-GCCNNNGGC-3 and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.

Gene Ontology (GO) - Molecular Function for TFAP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 18718911
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 9520389
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 7555706
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 7555706
GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 21084835
genes like me logo Genes that share ontologies with TFAP2A: view
genes like me logo Genes that share phenotypes with TFAP2A: view

Human Phenotype Ontology for TFAP2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFAP2A Gene

MGI Knock Outs for TFAP2A:

Animal Model Products

Transcription Factor Targets for TFAP2A Gene

Selected GeneGlobe predicted Target genes for TFAP2A
Targeted motifs for TFAP2A Gene
HOMER Transcription Factor Regulatory Elements motif TFAP2A
  • Consensus sequence: ATGCCCTGAGGC Submotif: canonical Cell Type: Hela GEO ID: GSE31477

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) for TFAP2A Gene

Localization for TFAP2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAP2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFAP2A Gene COMPARTMENTS Subcellular localization image for TFAP2A gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
nucleus 5
cytosol 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TFAP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IMP 12586840
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with TFAP2A: view

Pathways & Interactions for TFAP2A Gene

genes like me logo Genes that share pathways with TFAP2A: view

SIGNOR curated interactions for TFAP2A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TFAP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 8321221
GO:0001822 kidney development IMP 21204207
GO:0003404 optic vesicle morphogenesis ISS --
GO:0003409 optic cup structural organization ISS --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TFAP2A: view

Drugs & Compounds for TFAP2A Gene

(50) Drugs for TFAP2A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(44) Additional Compounds for TFAP2A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFAP2A: view

Transcripts for TFAP2A Gene

Unigene Clusters for TFAP2A Gene

Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha):
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFAP2A Gene

No ASD Table

Relevant External Links for TFAP2A Gene

GeneLoc Exon Structure for
TFAP2A
ECgene alternative splicing isoforms for
TFAP2A

Expression for TFAP2A Gene

mRNA expression in normal human tissues for TFAP2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFAP2A Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x12.5), Skin - Sun Exposed (Lower leg) (x12.3), Esophagus - Mucosa (x6.6), and Minor Salivary Gland (x4.2).

Protein differential expression in normal tissues from HIPED for TFAP2A Gene

This gene is overexpressed in Placenta (57.6) and Adipocyte (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TFAP2A Gene



Protein tissue co-expression partners for TFAP2A Gene

NURSA nuclear receptor signaling pathways regulating expression of TFAP2A Gene:

TFAP2A

SOURCE GeneReport for Unigene cluster for TFAP2A Gene:

Hs.519880
genes like me logo Genes that share expression patterns with TFAP2A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TFAP2A Gene

Orthologs for TFAP2A Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAP2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFAP2A 34 35
  • 99.92 (n)
dog
(Canis familiaris)
Mammalia TFAP2A 35
  • 99 (a)
OneToOne
LOC488213 34
  • 96.49 (n)
oppossum
(Monodelphis domestica)
Mammalia TFAP2A 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2A 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFAP2A 34 35
  • 96.49 (n)
mouse
(Mus musculus)
Mammalia Tfap2a 34 16 35
  • 94.43 (n)
rat
(Rattus norvegicus)
Mammalia Tfap2a 34
  • 94.23 (n)
chicken
(Gallus gallus)
Aves TFAP2A 34 35
  • 86.12 (n)
lizard
(Anolis carolinensis)
Reptilia TFAP2A 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2a 34
  • 80.11 (n)
TFAP2A 34
African clawed frog
(Xenopus laevis)
Amphibia tfap2a-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii tfap2a 34 35
  • 76.12 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7775 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011625 34
  • 59.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta AP-2 36 34 35
  • 57.24 (n)
worm
(Caenorhabditis elegans)
Secernentea K06A1.1 36
  • 50 (a)
aptf-1 35
  • 37 (a)
OneToMany
Species where no ortholog for TFAP2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFAP2A Gene

ENSEMBL:
Gene Tree for TFAP2A (if available)
TreeFam:
Gene Tree for TFAP2A (if available)

Paralogs for TFAP2A Gene

Paralogs for TFAP2A Gene

genes like me logo Genes that share paralogs with TFAP2A: view

Variants for TFAP2A Gene

Sequence variations from dbSNP and Humsavar for TFAP2A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121909574 Branchiooculofacial syndrome (BOFS) [MIM:113620], Pathogenic 10,404,509(-) TCCGG(A/C/G)GGTGA reference, synonymous-codon, missense
rs121909575 Branchiooculofacial syndrome (BOFS) [MIM:113620], Pathogenic 10,402,590(-) TGGAG(A/G)AAGAT reference, missense
rs151344528 Branchiooculofacial syndrome (BOFS) [MIM:113620] 10,404,512(-) TGCTC(C/G/T)GGAGG reference, missense
VAR_045838 Branchiooculofacial syndrome (BOFS) [MIM:113620]
rs151344525 Pathogenic 10,404,562(-) GCGGC(A/C/G)GCTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TFAP2A Gene

Variant ID Type Subtype PubMed ID
esv2667708 CNV deletion 23128226
nsv1022072 CNV gain 25217958

Variation tolerance for TFAP2A Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFAP2A Gene

Human Gene Mutation Database (HGMD)
TFAP2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFAP2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFAP2A Gene

Disorders for TFAP2A Gene

MalaCards: The human disease database

(14) MalaCards diseases for TFAP2A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
branchiooculofacial syndrome
  • bof syndrome
ectopic thymus
enophthalmos
thymus gland disease
  • disease of thymus gland
orbital disease
  • orbital diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AP2A_HUMAN
  • Branchiooculofacial syndrome (BOFS) [MIM:113620]: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. {ECO:0000269 PubMed:18423521}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TFAP2A

Genetic Association Database (GAD)
TFAP2A
Human Genome Epidemiology (HuGE) Navigator
TFAP2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFAP2A
genes like me logo Genes that share disorders with TFAP2A: view

No data available for Genatlas for TFAP2A Gene

Publications for TFAP2A Gene

  1. The genomic structure of the human AP-2 transcription factor. (PMID: 8190633) Bauer R. … Buettner R. (Nucleic Acids Res. 1994) 3 4 22 64
  2. An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2. (PMID: 8321221) Buettner R. … Tainsky M.A. (Mol. Cell. Biol. 1993) 3 4 22 64
  3. Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins. (PMID: 1998122) Williams T. … Tjian R. (Science 1991) 3 4 22 64
  4. Analysis of the DNA-binding and activation properties of the human transcription factor AP-2. (PMID: 2010091) Williams T. … Tjian R. (Genes Dev. 1991) 3 4 22 64
  5. Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements. (PMID: 3063603) Williams T. … Tjian R. (Genes Dev. 1988) 2 3 4 64

Products for TFAP2A Gene

Sources for TFAP2A Gene

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