TFAP2A Gene
protein-coding GIFtS : 63
GC06M010503
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (Previous name: transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: TFAP2, AP2TF )
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Aliases & Descriptions for TFAP2A
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AP-2 1 , 2 , 3 AP-2alpha 2 AP2-alpha 3 AP2TF 2 , 3 , 5 BOFS 2 , 5 FLJ51761 2 OTTHUMP00000016013 2 OTTHUMP00000016014 2 TFAP2 2 , 3
Descriptions AP-2 transcription factor 3 Activating enhancer-binding protein 2 alpha 2 , 3 Activator protein 2 3 transcription factor AP-2 alpha 2 transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 2 transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) 1 , 2
Search outside databases for aliases for TFAP2A genePrevious GC identifers: GC06M010455 GC06M010506
Summaries for TFAP2A (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TFAP2A : AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator oftranscription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 andmetallothionein (MIM 156350) promoters.[supplied by OMIM] UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549 Function : Sequence-specific DNA-binding protein that interacts with inducible viral and cellularenhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensussequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biologicalfunctions including proper eye, face, body wall, limb and neural tube development. They alsosuppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2 alpha is the only AP-2protein required for early morphogenesis of the lens vesicle (By similarity)
Gene Wiki entry for TFAP2A
Genomic Location for TFAP2A
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TFAP2A gene Entrez Gene cytogenetic band: 6p24 Ensembl cytogenetic band: 6p24.3 HGNC cytogenetic band: 6pter-p22.3 TFAP2A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06M010503:
(about GC identifiers )
Start:
10,504,902 bp from pter
End:
10,527,783 bp from pter
Size:
22,882 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000006.10 NT_007592.14 Proteins for TFAP2A
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549 (See
protein sequence )Recommended Name: Transcription factor AP-2 alpha Size : 437 amino acids; 48062 Da
Subunit : 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 acomplex also containing EPN1 and NUMB during interphase and mitosis
Subcellular location : Nucleus
Secondary accessions : Q13777Alternative splicing : 4 isoforms : P05549-1 P05549-3 P05549-4 P05549-2 (Experimental confirmation may be lacking for some isoforms)
Post-translational modifications:
Sumoylated on Lys-10; which inhibits transcriptional activity (Probable)1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001027451.1 NP_001035890.1 NP_003211.1 ENSEMBL proteins: ENSP00000368928 ENSP00000368924 ENSP00000368922 ENSP00000368933 ENSP00000316516 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 1 Gene Ontology (GO) cellular component term (links to tree view) :
About this table Antibodies for TFAP2A: Assays for TFAP2A:
Protein
Domains/ Families for TFAP2A(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P05549 ProtoNet protein and cluster: P05549
2 Blocks protein families : IPB004979 Transcription factor AP-2 signature IPB008121 Transcription factor AP-2 alpha signature UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549 Domain : The WW-binding motif mediates interaction with WWOX (By similarity)Similarity : Belongs to the AP-2 family
Gene Function for TFAP2A
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003220 Applied Biosystems Silencer ® siRNAs for TFAP2A Sigma-Aldrich siRNA for TFAP2A Sigma-Aldrich shRNA for TFAP2A Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001032280                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001032280                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001032280  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003220 UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549 Function : Sequence-specific DNA-binding protein that interacts with inducible viral and cellularenhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensussequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biologicalfunctions including proper eye, face, body wall, limb and neural tube development. They alsosuppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2 alpha is the only AP-2protein required for early morphogenesis of the lens vesicle (By similarity)
Genatlas biochemistry entry for TFAP2A :transcription factor 2,AP-2 alpha,retinoic acid responsive gene,52 kDa,regulating the expression ofgenes required for development of tissues of ectodermal origin,activating CDKN1A (WAF1) and othergenes such as MCAM,MMP2,involved in the progression of human melanoma and potentially involved inanterior eye chamber development
15/19 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Tcfap2a) (see all 19
):3 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for TFAP2A
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for TFAP2A 5/91 Interacting proteins for TFAP2A (P05549 1 , 2 ENSP00000368933 3 ) via UniProtKB, MINT, and/or STRING (see all 91
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for TFAP2A (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for TFAP2A 10/54 Novoseek chemical compound relationships for TFAP2A gene (see all 54
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
ryudocan
60.17
1
8797100 (1)
manganese superoxide
49.78
1
11853549 (1)
glycerol 3-phosphate
48.73
8
2249632 (1), 1753215 (1), 11884404 (1), 1665451 (1) (see all 7 )
gw9662
44.25
3
17396233 (1), 16696951 (1)
fatty acid
41.00
48
1753215 (3), 17396233 (2), 17481768 (2), 15684432 (2) (see all 32 )
tyrosine
37.55
29
9497313 (3), 8918456 (3), 16581796 (2), 11146001 (2) (see all 22 )
mannose 6-phosphate
36.37
3
16914521 (1), 18817526 (1)
phosphatidylinositol phosphate
33.72
1
12913109 (1)
cyclic amp
31.42
12
9447955 (1), 10520459 (1), 10211885 (1), 18824087 (1) (see all 9 )
lipid
30.86
33
9361822 (2), 10842659 (2), 11322759 (2), 16936206 (1) (see all 27 )
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Transcripts for TFAP2A(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003220 Sigma-Aldrich siRNA for TFAP2A Sigma-Aldrich shRNA for TFAP2A Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001032280 NM_001042425 NM_003220
REFSEQ mRNAs for TFAP2A gene (3 alternative transcripts): NM_001032280.2 NM_001042425.1 NM_003220.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001032280 NM_001042425 NM_003220
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001032280                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001032280                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001032280  
Additional cDNA sequence: AK296737.1 BC017754.1 BC071713.1 CR601719.1 CR604637.1 FJ794945.1 M61156.1
17 DOTS entries : DT.86842214 DT.100783422 DT.91757999 DT.102842574 DT.91673313 DT.100783424 DT.95214380 DT.95155656 DT.100718848 DT.121332473 DT.97772917 DT.100682139 DT.100684667 DT.100783418 DT.121332363 DT.99967302 DT.100783417
24/197 AceView cDNA sequences (see all 197
):BQ673192 AI570166 CB853129 BG251670 CA945028 BM669517 BE855399 BM714268 AI223848 CD671135 AI362076 BF432486 BU631526 BU956975 AW026563 BU733969 BQ220260 CR601719 R81259 BM761995 BU527990 BM692663 BM722267 BU190540
highest scoring ESTs for TFAP2A :AL546403 BG252096 BM724073 CF593975 M36711 M61156 X52611 AA075806 AA079248 AA454871
Unigene Cluster for TFAP2A: Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) Hs.519880 [show with all ESTs ] Unigene Representative Sequence: NM_001032280 GeneLoc Exon Structure 5 Ensembl transcripts including schematic representations : ENST00000379608
ENST00000379604
ENST00000379602
ENST00000379613
ENST00000319516
Expression for TFAP2A
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TFAP2A expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TFAP2A 1 / 2 / 3
10 probe-sets matching TFAP2A gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCTGTCAATGSOURCE GeneReport for Unigene cluster: Hs.519880 Expression variation in blood from EXPOLDB for TFAP2A
Orthologs for TFAP2A
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TFAP2A gene from 5/13 species (see all 13
)
About this table Species with no ortholog for TFAP2A ENSEMBL Gene Tree for TFAP2A Paralogs for TFAP2A (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TFAP2A gene TFAP2C 2 TFAP2B 2
SNPs/Variants for TFAP2A (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TFAP2A (up to first 250kb)
Disorders & Mutations for TFAP2A
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 107580 disorders : 113620 UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549
Defects in TFAP2A are the cause of branchiooculofacial syndrome (BOFS) [MIM:113620]; alsoknown as branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimalduct, and premature aging or lip pseudocleft-hemangiomatous branchial cyst syndrome. BOFS is arare autosomal dominant cleft palate craniofacial disorder with variable expressivity. The majorfeatures include cutaneous anomalies, ocular anomalies, characteristic facial appearance(malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair)anomalies
10/64 Novoseek disease relationships for TFAP2A gene (see all 64
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
choriocarcinoma
49.82
6
11014230 (1), 11298758 (1), 11798181 (1), 9231796 (1) (see all 5 )
teratocarcinoma
41.59
6
8321221 (1), 9858613 (1), 9889285 (1), 7926729 (1)
melanoma
38.11
110
14517845 (5), 12789289 (5), 9817279 (5), 11596105 (4) (see all 30 )
metastatic melanoma
35.59
7
12789289 (2), 9810513 (1), 12741683 (1), 11310795 (1) (see all 6 )
tumors
33.55
75
9817279 (6), 12226108 (5), 18218085 (5), 14996719 (3) (see all 40 )
carcinoma non-small cell lung
32.64
1
15864740 (1)
breast cancer
32.00
63
15196531 (5), 9850080 (5), 15467710 (5), 12429639 (5) (see all 23 )
insulin sensitivity
24.55
5
10842659 (1), 18324929 (1), 15686734 (1), 11891416 (1)
lung carcinoma
23.43
3
17237224 (1), 1953710 (1), 14551210 (1)
dysplastic nevi
16.00
2
11596105 (1), 16946713 (1)
About this table Human Gene Mutation Database : TFAP2A
Medical News for TFAP2A (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TFAP2A (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/616 PubMed articles for TFAP2A gene (see all 616
): Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements. (PubMed id 3063603) 2, 3, 4 Williams T....Tjian R. (1988) An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2. (PubMed id 8321221) 1, 3, 4 Buettner R.... Tainsky M.A. (1993) The genomic structure of the human AP-2 transcription factor. (PubMed id 8190633) 1, 3, 4 Bauer R.... Buettner R. (1994) Analysis of the DNA-binding and activation properties of the human transcription factor AP-2. (PubMed id 2010091) 1, 3, 4 Williams T. and Tjian R. (1991) TFAP2A mutations result in branchio-oculo-facial syndrome. (PubMed id 18423521) 3, 4 Milunsky J.M....Lin A.E. (2008) Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor. (PubMed id 15548692) 3, 4 Aqeilan R.I....Croce C.M. (2004) Human CREB-binding protein/p300-interacting transactivator with ED- rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2. (PubMed id 11744733) 3, 4 Braganca J.... Bhattacharya S. (2002) Transcription factor AP-2 interacts with the SUMO-conjugating enzyme UBC9 and is sumolated in vivo. (PubMed id 12072434) 3, 4 Eloranta J.J. and Hurst H.C. (2002) Transcription factor AP-2 activity is modulated by protein kinase A- mediated phosphorylation. (PubMed id 10037142) 3, 4 Garcia M.A.... Vazquez J. (1999) Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins. (PubMed id 1998122) 3, 4 Williams T. and Tjian R. (1991)
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Genome Databases showing TFAP2A
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TFAP2A
(According to HUGE )
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Specialized Databases showing TFAP2A (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for TFAP2A (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for TFAP2A:
Antibodies & Assays for TFAP2A   (AP-2-alpha)
Search Tocris compounds for TFAP2A
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009