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 (BO... See more...

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
  • Transcription Factor AP-2-Alpha 3 4
  • AP-2 Transcription Factor 3 4
  • Activator Protein 2 3 4
  • AP2TF 3 4
  • TFAP2 3 4
  • AP-2 3 4
  • Transcription Factor AP-2 Alpha (Activating Enhancer-Binding Protein 2 Alpha) 2
  • AP-2alpha 3
  • AP2-Alpha 4
  • 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 Lens Subluxation. Among its related pathways are Metabolism of proteins and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TFAP2B.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TFAP2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFAP2A Gene

Genomics for TFAP2A Gene

GeneHancer (GH) Regulatory Elements for TFAP2A Gene

Promoters and enhancers for TFAP2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFAP2A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFAP2A

Top Transcription factor binding sites by QIAGEN in the TFAP2A gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for TFAP2A Gene

Genomic Locations for TFAP2A Gene
chr6:10,393,186-10,419,659
(GRCh38/hg38)
Size:
26,474 bases
Orientation:
Minus strand
chr6:10,393,419-10,419,892
(GRCh37/hg19)
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.
    Miscellaneous:
    • [Isoform 4]: May be an aberrantly processed form with no significant distribution in vivo.

    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

Gene Families for TFAP2A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TFAP2A Gene

Blocks:
  • Transcription factor AP-2 signature
  • Transcription factor AP-2 alpha signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TFAP2A Gene

GenScript: Design optimal peptide antigens:
  • Activator protein 2 (AP2A_HUMAN)
  • Transcription factor AP2 (Q92755_HUMAN)
  • Transcription factor AP-2 alpha (Activating enhancer binding protein 2 alpha), isoform CRA_a (Q96SH0_HUMAN)
  • Transcription factor AP-2 alpha (Activating enhancer binding protein 2 alpha), isoform CRA_c (Q96SH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05549

UniProtKB/Swiss-Prot:

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

Function for TFAP2A Gene

Molecular function for TFAP2A Gene

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.
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

Phenotypes From GWAS Catalog for TFAP2A Gene

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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 7555706
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,NAS 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IDA 7559606
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

CRISPR Products

miRNA for TFAP2A Gene

miRTarBase miRNAs that target TFAP2A

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFAP2A gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
plasma membrane 2
extracellular 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TFAP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IMP 12586840
GO:0005654 nucleoplasm TAS,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

Activates:
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 by RNA polymerase II TAS --
GO:0001822 kidney development IMP 21204207
GO:0003404 optic vesicle morphogenesis ISS --
GO:0003409 optic cup structural organization ISS --
GO:0006355 regulation of 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

mRNA/cDNA for TFAP2A Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for TFAP2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFAP2A

SOURCE GeneReport for Unigene cluster for TFAP2A Gene:

Hs.519880

Evidence on tissue expression from TISSUES for TFAP2A Gene

  • Skin(2.8)
  • Eye(2.7)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TFAP2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • esophagus
  • thymus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
Limb:
  • arm
  • digit
  • elbow
  • finger
  • hand
  • nail
  • upper limb
General:
  • blood
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TFAP2A: view

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 31 30
  • 99.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TFAP2A 31
  • 99 (a)
OneToOne
LOC488213 30
  • 96.49 (n)
oppossum
(Monodelphis domestica)
Mammalia TFAP2A 31
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2A 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFAP2A 31 30
  • 96.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tfap2a 17 31 30
  • 94.43 (n)
rat
(Rattus norvegicus)
Mammalia Tfap2a 30
  • 94.23 (n)
chicken
(Gallus gallus)
Aves TFAP2A 31 30
  • 86.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAP2A 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2a 30
  • 80.11 (n)
TFAP2A 30
African clawed frog
(Xenopus laevis)
Amphibia tfap2a-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii tfap2a 31 30 30
  • 76.12 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7775 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011625 30
  • 59.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta AP-2 31 32 30
  • 57.24 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K06A1.1 32
  • 50 (a)
aptf-1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TFAP2A: view image

Paralogs for TFAP2A Gene

Paralogs for TFAP2A Gene

(4) SIMAP similar genes for TFAP2A Gene using alignment to 9 proteins:

  • AP2A_HUMAN
  • C1K3N0_HUMAN
  • C9J6N8_HUMAN
  • C9JXZ2_HUMAN
  • F8WDC8_HUMAN
  • F8WEX2_HUMAN
  • H7C4N4_HUMAN
  • H7C5E5_HUMAN
  • Q96SH1_HUMAN
genes like me logo Genes that share paralogs with TFAP2A: view

Variants for TFAP2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFAP2A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
713466 Benign: not provided 10,400,555(-) G/A SYNONYMOUS_VARIANT
715876 Benign: not provided 10,404,699(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
731224 Likely Benign: not provided 10,409,897(-) T/C INTRON_VARIANT
735012 Benign: not provided 10,406,844(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
736915 Benign: not provided 10,410,041(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TFAP2A Gene

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)

Additional Variant Information 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

(35) MalaCards diseases for TFAP2A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
branchiooculofacial syndrome
  • bofs
lens subluxation
  • subluxation of lens
esotropia
  • convergence in manifest squint
amblyopia
coloboma of iris
  • iris coloboma
- 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.

Additional Disease Information for TFAP2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 research 1994) 3 4 23 54
  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 MA (Molecular and cellular biology 1993) 3 4 23 54
  3. Analysis of the DNA-binding and activation properties of the human transcription factor AP-2. (PMID: 2010091) Williams T … Tjian R (Genes & development 1991) 3 4 23 54
  4. Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins. (PMID: 1998122) Williams T … Tjian R (Science (New York, N.Y.) 1991) 3 4 23 54
  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 & development 1988) 2 3 4 54

Products for TFAP2A Gene

Sources for TFAP2A Gene