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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TFAP2A Gene

protein-coding GIFtS: 62
GCID: GC06M010393

transcription factor AP-2 alpha (activating enhancer binding...

(Previous name: transcription factor AP-2 alpha (activating enhancer-binding...)
(Previous symbols: TFAP2, AP2TF)

Explore 87 diseases affiliated with
TFAP2A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transcription Factor AP-2 Alpha (Activating Enhancer Binding Protein 2 Alpha)¹ ²		AP2-Alpha¹
AP2TF¹ ² ³ ⁵		AP-2 Transcription Factor² ³
AP-2¹ ² ³		BOFS² ⁵
TFAP2¹ ² ³		Transcription Factor AP-2 Alpha (Activating Enhancer-Binding Protein 2 Alpha)¹
Activating Enhancer-Binding Protein 2-Alpha² ³		AP-2alpha²
Activator Protein 2² ³		Transcription Factor AP-2-Alpha²

External Ids:	HGNC: 11742¹	Entrez Gene: 7020²	Ensembl: ENSG00000137203⁷	OMIM: 107580⁵	UniProtKB: P05549³

Export aliases for TFAP2A gene to outside databases

Previous GC identifers: GC06M010455 GC06M010506 GC06M010503 GC06M010272

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TFAP2A:

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)

UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549

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 Wiki entry for TFAP2A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TFAP2A gene promoter:
CREB deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TFAP2A promoter sequence

Search SABiosciences Chromatin IP Primers for TFAP2A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFAP2A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
TFAP2A gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M010393: view genomic region (about GC identifiers)

Start:	10,393,419 bp from pter	End:	10,419,892 bp from pter
Size:	26,474 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 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

Subcellular location: Nucleus

Secondary accessions: Q13777 Q8N1C6

Alternative splicing: 3 isoforms: P05549-1 P05549-5 P05549-2 (May be an aberrantly processed form with no significant distribution in vivo)

Explore the universe of human proteins at neXtProt for TFAP2A: NX_P05549

Post-translational modifications:

Sumoylated on Lys-10; which inhibits transcriptional activity (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P05549

TFAP2A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001027451.1 NP_001035890.1 NP_003211.1

ENSEMBL proteins:

ENSP00000417735 ENSP00000368933 ENSP00000420568 ENSP00000316516 ENSP00000368928

ENSP00000419823 ENSP00000418541 ENSP00000417495 ENSP00000419696 ENSP00000419961

ENSP00000418391 ENSP00000368924

Human Recombinant Protein Products for TFAP2A:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: TFAP2A OriGene Protein Over-expression Lysate: TFAP2A OriGene Custom Protein Services for TFAP2A
	GenScript Custom Purified and Recombinant Proteins Services for TFAP2A
	Novus Biologicals TFAP2A Proteins Novus Biologicals TFAP2A Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IMP	12586840
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005794	Golgi apparatus	IDA	--
GO:0005813	centrosome	IDA	--

TFAP2A for ontologies About GeneDecksing

TFAP2A Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TFAP2A
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	Cell Signaling Technology (CST) Antibodies for TFAP2A (AP-2 alpha)
	OriGene Antibodies: TFAP2A OriGene Custom Antibody Services for TFAP2A
	GenScript Custom Superior Antibodies Services for TFAP2A
	Novus Biologicals TFAP2A Antibodies
	Abcam antibodies for TFAP2A
	Browse Antibodies at Uscn
	ThermoFisher Antibody for TFAP2A

Assay Products for TFAP2A:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TFAP2A
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TFAP2A for domains About GeneDecksing

3 InterPro domains/families:

IPR004979 TF_AP2

IPR013854 TF_AP2_C

IPR008121 TF_AP2_alpha_N

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AP2A_HUMAN, P05549

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 entry for TFAP2A:

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

Gene Ontology (GO): 5/19 molecular function terms (GO ID links to tree view) (see all 19): About this table

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:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IEA	--
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	IDA	7555706

TFAP2A for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for TFAP2A:

Increased cell death HMECs cel

Increased cell number in G2M,

15/20 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Tfap2a) (see all 20):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
immune system	integument	limbs/digits/tail	mortality/aging	nervous system

TFAP2A for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for TFAP2A: Tfap2a^tm1Will Tfap2a^tm1Jae

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TFAP2A

		10/585 SABiosciences Target genes for TFAP2A (see all 585):
		AAAS AAK1 AARSD1 ACADS ACADVL ACAN ACSL1 ACSL4 ACSL6 ADAM11

miRNA Products:		OriGene 3'-UTR Clone (see all 3): TFAP2A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFAP2A
		8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate TFAP2A (see all 79):
		hsa-miR-124* hsa-miR-548j hsa-miR-3938 hsa-miR-200a hsa-miR-632 hsa-miR-4275 hsa-miR-548a-5p hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: TFAP2A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFAP2A (see all 4) OriGene shRNA RFP: TFAP2A OriGene siRNA: TFAP2A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFAP2A
		Sirion Biotech Custom design and validation of potent shRNA sequences against TFAP2A

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for TFAP2A
			Sirion Biotech Customized adenovirus for overexpression of TFAP2A Sirion Biotech Customized adenovirus for potent knockdown of TFAP2A

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFAP2A (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TFAP2A (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): TFAP2A (NM_003220)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFAP2A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFAP2A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TFAP2A
		LifeMap BioReagents: cell lines associated with TFAP2A: PureStem 4D20.8, NCr-fac Progenitor, PureStem 7SMOO32, NCr-fac & Meso Progenitor, PureStem E15, Meso-prx/latp Progenitor, PureStem MEL2, NCr-fac Progenitor
		Sirion Biotech Customized stable knockdown cell line services for TFAP2A Sirion Biotech Customized inducible knockdown cell line services for TFAP2A Sirion Biotech Customized stable overexpressing cell line services for TFAP2A Sirion Biotech Customized inducible overexpressing cell line services for TFAP2A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2A

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Neuroscience

Neuroscience

1.00

Apoptosis and Autophagy

Apoptosis and Autophagy

1.00

Neural Crest Differentiation

Neural Crest Differentiation

1.00

Selected targets of C/EBPalpha

Selected targets of C/EBPalpha

1.00

Apoptosis and survival_Caspase cascade

Caspase cascade in apoptosis

0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TFAP2A

Selected targets of C/EBPalpha

2 Cell Signaling Technology (CST) Pathways for TFAP2A

	Apoptosis and Autophagy
	Neuroscience

3 BioSystems Pathways for TFAP2A

	Neural Crest Differentiation
	Wnt Signaling Pathway NetPath
	Caspase cascade in apoptosis

TFAP2A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TFAP2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/41 Interacting proteins for TFAP2A (P05549^{1, 2, 3} ENSP00000368924⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NPM1	P06748²^,³, ENSP00000296930⁴	MINT-4544864 MINT-4544816 MINT-4544848 MINT-4544800 MINT-4544829 MINT-4544883 I2D: score=3 STRING: ENSP00000296930
SH3BP4	Q9P0V3²^,³, ENSP00000340237⁴	MINT-7159859 I2D: score=1 STRING: ENSP00000340237
EP300	Q09472¹^,³, ENSP00000263253⁴	EBI-347351,EBI-3908041 I2D: score=3 STRING: ENSP00000263253
TP53	P04637³, ENSP00000269305⁴	I2D: score=3 STRING: ENSP00000269305
APC	P25054³, ENSP00000257430⁴	I2D: score=2 STRING: ENSP00000257430

About this table

Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55): About this table

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	--
GO:0001843	neural tube closure	--	--
GO:0002089	lens morphogenesis in camera-type eye	--	--
GO:0003151	outflow tract morphogenesis	IEA	--

TFAP2A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TFAP2A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TFAP2A
10/94 Novoseek chemical compound relationships for TFAP2A gene (see all 94) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ryudocan	59.6	1	8797100 (1)
manganese superoxide	48	1	11853549 (1)
glycerol 3-phosphate	47.4	8	2249632 (1), 1753215 (1), 11884404 (1), 1665451 (1) (see all 7)
chloramphenicol	45	4	8321221 (1), 9632718 (1), 12145340 (1)
pioglitazone	44.2	5	19048458 (2), 15273253 (2), 18324929 (1)
fatty acid	40.5	50	1753215 (3), 17396233 (2), 17481768 (2), 15684432 (2) (see all 33)
gw9662	40.3	3	17396233 (1), 16696951 (1)
thiazolidinedione	39.7	3	9421462 (1), 11884404 (1), 8702406 (1)
tyrosine	37.5	29	9497313 (3), 8918456 (3), 16581796 (2), 11146001 (2) (see all 22)
mannose 6-phosphate	35	3	16914521 (1), 18817526 (1)

Search CenterWatch for drugs/clinical trials and news about TFAP2A / AP2A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TFAP2A gene (3 alternative transcripts):

NM_001032280.2 NM_001042425.1 NM_003220.2

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

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000461628 ENST00000379613 ENST00000489805 ENST00000319516 ENST00000379608

ENST00000488193 ENST00000482890 ENST00000466073 ENST00000497266 ENST00000475264

ENST00000478375(uc003myu.1) ENST00000498450 ENST00000490875 ENST00000473652

ENST00000474952 ENST00000462727 ENST00000464323(uc011dii.1) ENST00000465858

miRNA Products:		OriGene 3'-UTR Clone (see all 3): TFAP2A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFAP2A
		8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate TFAP2A (see all 79):
		hsa-miR-124* hsa-miR-548j hsa-miR-3938 hsa-miR-200a hsa-miR-632 hsa-miR-4275 hsa-miR-548a-5p hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: TFAP2A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFAP2A (see all 4) OriGene shRNA RFP: TFAP2A OriGene siRNA: TFAP2A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFAP2A
		Sirion Biotech Custom design and validation of potent shRNA sequences against TFAP2A

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFAP2A (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TFAP2A (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): TFAP2A (NM_003220)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TFAP2A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TFAP2A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TFAP2A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TFAP2A

Additional cDNA sequence:

AK296737.1 BC017754.1 BC071713.1 FJ794945.1 M36711.1 M61156.1 X52611.1

16 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.100684667 DT.100783418 DT.121332363 DT.99967302 DT.100783417

24/197 AceView cDNA sequences (see all 197):

AW026563 C16910 BG251670 CB134635 AA454871 BM986955 CR604637 BM669517

BM665338 BX098332 BF432486 R71533 BM913283 AI682417 BE265200 AI570166

AI362076 CA945028 AI223848 H81894 BQ220260 BU190540 CD722290 BQ439716

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TFAP2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTGTCAATG

About this image

TFAP2A expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Rhombencephalic Neural Crest Cells

Selective marker (cell-identifying gene)

Neural Crest

Limb

Autopod

Prechondrocytic Mesenchymal Cells

Bone, Cartilage

Bone, Cartilage

Prechondrocytic Mesenchymal Cells

Bone, Cartilage

Neural Crest

Cranial Neural Crest

Cranial Neural Crest Cells

Neural Crest

Eye

Inner Nuclear Layer

Early Immature Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Immature Horizontal Cells

Horizontal, Retina

Eye

Inner Nuclear Layer

Late Immature Amacrine Cells

Amacrine, Retina

Head Mesenchyme

Prechordal Mesenchyme

Diencephalic Neural Crest Cells

Neural Crest

Head Mesenchyme

Prechordal Mesenchyme

Mesencephalic Neural Crest Cells

Neural Crest

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18)

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

See TFAP2A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TFAP2A

SOURCE GeneReport for Unigene cluster: Hs.519880

SABiosciences Expression via Pathway-Focused PCR Arrays including TFAP2A:

Circadian Rhythms in human mouse rat

Transcription Factors in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TFAP2A gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TFAP2A¹	transcription factor AP-2 alpha (activating enhancer more	86.12(n) 93.59(a)		395982 NM_205094.1 NP_990425.1
lizard (Anolis carolinensis)	Reptilia	TFAP2A⁶	--	96(a)	1 ↔ 1	GL343209.1(2373008-2393629)
African clawed frog (Xenopus laevis)	Amphibia	tfap2a-A-prov²	transcription factor AP-2 alpha	79.39(n)		M59455.1
zebrafish (Danio rerio)	Actinopterygii	tfap2a²	transcription factor AP-2 alpha	79.67(n)		140618 AF457191.1
fruit fly (Drosophila melanogaster)	Insecta	AP-2^{1 , 3}	leg joint morphogenesis (sensu Holometabola) RNA more³ AP-2¹	50(a)³ 55.75(n)¹ 51.5(a)¹		40398¹ NM_168927.1¹ NP_730664.1¹
worm (Caenorhabditis elegans)	Secernentea	K06A1.1³	transcription factor AP-2	50(a)		II(6454923-6456389) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TFAP2A gene

TFAP2C² TFAP2D² TFAP2E² TFAP2B²

4 SIMAP similar genes for TFAP2A using alignment to 10 protein entries: AP2A_HUMAN (see all proteins):

TFAP2C TFAP2B TFAP2E TFAP2D

TFAP2A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121909574^1,2	C	pathogenic	10280497(-)	`TCCGGA/GGGTGA`	6	R G	mis¹		0	--	--	--	--
rs151344528^1,2	C	pathogenic	10280500(-)	`TGCTCC/G/TGGAGG`	9	R G W	mis¹		0	--	--	--	--
rs151344525^1,2	C	pathogenic	10280550(-)	`GCGGCA/C/GGCTCT`	9	Q P R	mis¹		0	--	--	--	--
rs76608907^1,2		--	10272198(+)	`AAAGAT/CTCCAG`	3	--	ds500¹		2		CSA WA	120
rs303047^1,2		--	10272536(+)	`GGGGGA/GGCTGT`	3	--	ds500¹		0	--	--	--	--
rs16893358^1,2	C,F,H	--	10272781(+)	`ATACAT/CTGGGT`	3	--	ut3¹		10		NA NS EA WA	1062
rs2763168^1,2	H	--	10272882(+)	`TACTTG/TAGGGA`	3	--	ut3¹ ese³		4		NS EA	418
rs2763169^1,2	H	--	10273178(+)	`GTGGTC/TCCAAA`	3	--	ut3¹ ese³		4		NS EA	420
rs80094467^1,2		--	10273246(+)	`CTAACC/TCTTGG`	3	--	ut3¹		2		CSA WA	120
rs113256477^1,2	C	--	10273461(+)	`TTTATC/TTTACT`	3	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TFAP2A (10393419 - 10419892 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TFAP2A: --
Human Gene Mutation Database (HGMD): TFAP2A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TFAP2A for disorders           About GeneDecksing

OMIM gene information: 107580
OMIM disorders: 113620
UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549

Defects in TFAP2A are the cause of branchiooculofacial syndrome (BOFS) [MIM:113620]; also known as branchial

clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging or lip

pseudocleft-hemangiomatous branchial cyst syndrome. BOFS is a rare autosomal dominant cleft palate craniofacial

disorder with variable expressivity. The major features include cutaneous anomalies, ocular anomalies, characteristic

facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair)

anomalies

20/87 diseases for TFAP2A (see all 87): About MalaCards

branchiooculofacial syndrome acyl-coa dehydrogenase ectopic thymus non-small cell lung carcinoma

adenomatous polyposis coli dominant cleft palate hereditary hemorrhagic telangiectasia nonalcoholic steatohepatitis

clear cell renal cell carcinoma cleft palate soft tissue sarcoma spina bifida

insulin resistance cutaneous malignant melanoma exencephaly oral squamous cell carcinoma

enophthalmos cleft lip renal cell carcinoma cystic fibrosis

4 diseases from the University of Copenhagen DISEASES database for TFAP2A:

Branchiooculofacial syndrome Ectopic thymus Enophthalmos Cleft lip

10/65 Novoseek disease relationships for TFAP2A gene (see all 65) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
choriocarcinoma	55.8	7	11014230 (1), 20195529 (1), 11298758 (1), 11798181 (1) (see all 6)
teratocarcinoma	44.2	6	8321221 (1), 9858613 (1), 9889285 (1), 7926729 (1)
melanoma	37	112	14517845 (5), 12789289 (5), 9817279 (5), 11596105 (4) (see all 31)
carcinoma non-small cell lung	34.7	1	15864740 (1)
breast cancer	34.4	69	15196531 (5), 9850080 (5), 12429639 (5), 15467710 (5) (see all 26)
metastatic melanoma	33.6	7	12789289 (2), 9810513 (1), 12741683 (1), 11310795 (1) (see all 6)
tumors	33.2	83	9817279 (6), 12226108 (5), 18218085 (5), 14996719 (3) (see all 45)
insulin sensitivity	30.2	6	10842659 (1), 18324929 (1), 19936080 (1), 15686734 (1) (see all 5)
lung carcinoma	25.2	4	17237224 (1), 19654299 (1), 1953710 (1), 14551210 (1)
insulin resistance	18.1	5	18679408 (2), 11891416 (1), 16641093 (1), 19394977 (1)

Human Genome Epidemiology (HuGE) Navigator: TFAP2A (3 documents)

Export disorders for TFAP2A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TFAP2A gene, integrated from 9 sources (see all 764):
(articles sorted by number of sources associating them with TFAP2A)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements. (PubMed id 3063603)^{1, 2, 3} 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, 2, 9} Buettner R.... Tainsky M.A. (1993)
The genomic structure of the human AP-2 transcription factor. (PubMed id 8190633)^{1, 2, 9} Bauer R.... Buettner R. (1994)
Analysis of the DNA-binding and activation properties of the human transcription factor AP-2. (PubMed id 2010091)^{1, 2, 9} Williams T. and Tjian R. (1991)
Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins. (PubMed id 1998122)^{1, 2, 9} Williams T. and Tjian R. (1991)
The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PubMed id 19115315)^{1, 2} Ding X....Zhang J. (2009)
TFAP2A mutations result in branchio-oculo-facial syndrome. (PubMed id 18423521)^{1, 2} 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)^{1, 2} Aqeilan R.I....Croce C.M. (2004)
Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2. (PubMed id 12586840)^{1, 2} Braganca J....Bhattacharya S. (2003)
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)^{1, 2} Braganca J.... Bhattacharya S. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7020	HGNC: 11742	AceView: TFAP2A	Ensembl:ENSG00000137203	euGenes: HUgn7020
ECgene: TFAP2A	H-InvDB: TFAP2A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TFAP2A	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TFAP2A	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Activating_protein_2

Intellectual Property for TFAP2A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TFAP2A gene:
Search GeneIP for patents involving TFAP2A

GeneCards and IP:
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