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TFAP2A Gene

protein-coding   GIFtS: 66
GCID: GC06M010393

Transcription Factor AP-2 Alpha (Activating Enhancer Binding...

(Previous name: transcription factor AP-2 alpha (activating enhancer-binding...)
(Previous symbols: TFAP2, AP2TF)
  See TFAP2A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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

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

Export aliases for TFAP2A gene to outside databases

Previous GC identifers: GC06M010455 GC06M010506 GC06M010503 GC06M010272


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (activating enhancer binding protein 2 alpha)) is a protein-coding gene. Diseases associated with TFAP2A include branchiooculofacial syndrome, and ectopic thymus. GO annotations related to this gene include chromatin binding and protein homodimerization activity. An important paralog of this gene is TFAP2C.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for TFAP2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 6p24.3

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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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 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
Secondary accessions: Q13777 Q5TAV5 Q8N1C6
Alternative splicing: 4 isoforms:  P05549-1   P05549-5   P05549-2   P05549-6   (Gene prediction based on EST data)

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

Explore proteomics data for TFAP2A at MOPED

Post-translational modifications: 

  • Sumoylated on Lys-10; which inhibits transcriptional activity (Probable)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TFAP2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    TFAP2A Human Recombinant Protein Products:

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    OriGene Purified Protein for TFAP2A
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    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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TFAP2A 

     
    antibodies-online proteins for TFAP2A (9 products) 

     
    antibodies-online peptides for TFAP2A

    TFAP2A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TFAP2A
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for TFAP2A  (AP-2 alpha)
    OriGene Antibodies for TFAP2A
    OriGene Custom Antibody Services for TFAP2A
    Novus Biologicals TFAP2A Antibodies
    Abcam antibodies for TFAP2A (P05549, Q92481)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for TFAP2A
    antibodies-online antibodies for TFAP2A (90 products) 

    TFAP2A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TFAP2A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TFAP2A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for TFAP2A 
    antibodies-online kits for TFAP2A (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with TFAP2A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IDA18718911
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding ----
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA--
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IDA7555706
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with TFAP2A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for TFAP2A:
     Increased cell death HMECs cel  Increased cell number in G2M,  

         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Tfap2a) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 

    Find genes that share phenotypes with TFAP2A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TFAP2A: Tfap2atm1Will Tfap2atm1Jae

       genOway: Develop your customized and physiologically relevant rodent model for TFAP2A

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for TFAP2A (see all 578):
    AAAS,  AAK1,  AARSD1,  ACADS,  ACADVL,  ACAN,  ACSL1,  ACSL4,  ACSL6,  ADAM11

    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ATGCCCTGAGGC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target TFAP2A:
    hsa-mir-221-3p (MIRT024195), hsa-mir-320a (MIRT044482), hsa-mir-16-5p (MIRT031854), hsa-mir-98-5p (MIRT027773), hsa-mir-103a-3p (MIRT027191)

    Block miRNA regulation of human, mouse, rat TFAP2A using miScript Target Protectors
    Selected qRT-PCR 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 plasmidTFAP2A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TFAP2A
    Predesigned siRNA for gene silencing in human, mouse, rat TFAP2A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TFAP2A

    Clone
    Products:
         
    OriGene clones in human, mouse for TFAP2A (see all 17)
    OriGene ORF clones in mouse, rat for TFAP2A
    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
    Addgene plasmids for TFAP2A 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TFAP2A
    ESI BIO PureStem Progenitors for TFAP2A: 
    PureStem 4D20.8, NCr-fac Progenitor, PureStem 7SMOO32, NCr-fac & Meso Progenitor,
    PureStem E15, Meso-prx/latp Progenitor, PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP2A_HUMAN, P05549: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    golgi apparatus4
    cytosol2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IMP12586840
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with TFAP2A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TFAP2A About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Caspase cascade in apoptosis0.42
    2Wnt signaling pathway (KEGG)
    Wnt Signaling Pathway NetPath0.37
    3Selected targets of C EBPalpha
    Selected targets of C EBPalpha
    4Neuroscience
    Neuroscience
    5Neural Crest Differentiation
    Neural Crest Differentiation


    Find genes that share SuperPaths with TFAP2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for TFAP2A
        Apoptosis and Autophagy
    Neuroscience

    4 BioSystems Pathways for TFAP2A
        Neural Crest Differentiation
    Wnt Signaling Pathway NetPath
    Corticotropin-releasing hormone
    Caspase cascade in apoptosis


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TFAP2A: 
              Circadian Rhythms in human mouse rat
              Transcription Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TFAP2A

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

    Selected Interacting proteins for TFAP2A (P055491, 2, 3 ENSP000003689244) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPM1P067481, 2, 3, ENSP000002969304EBI-347351,EBI-78579 MINT-4544864 MINT-4544816 MINT-4544848 MINT-4544800 MINT-4544829 MINT-4544883 I2D: score=3 STRING: ENSP00000296930
    SH3BP4Q9P0V32, 3, ENSP000003402374MINT-7159859 I2D: score=1 STRING: ENSP00000340237
    EP300Q094721, 3, ENSP000002632534EBI-347351,EBI-447295 I2D: score=3 STRING: ENSP00000263253
    TP53P046373, ENSP000002693054I2D: score=3 STRING: ENSP00000269305
    APCP250543, ENSP000002574304I2D: score=2 STRING: ENSP00000257430
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0001822kidney development IMP--
    GO:0001843neural tube closure ----
    GO:0002089lens morphogenesis in camera-type eye ----
    GO:0003151outflow tract morphogenesis IEA--

    Find genes that share ontologies with TFAP2A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TFAP2A (AP2A)

    Selected Novoseek inferred 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)



    Find genes that share compounds with TFAP2A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    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
    Selected 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
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    Selected qRT-PCR 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 plasmidTFAP2A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TFAP2A
    Predesigned siRNA for gene silencing in human, mouse, rat TFAP2A
    Clone
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    OriGene clones in human, mouse for TFAP2A (see all 17)
    OriGene ORF clones in mouse, rat for TFAP2A
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFAP2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFAP2A
    Addgene plasmids for TFAP2A 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TFAP2A
    OriGene qSTAR qPCR primer pairs in human, mouse for TFAP2A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TFAP2A
      QuantiTect SYBR Green Assays in human, mouse, rat TFAP2A
      QuantiFast Probe-based Assays in human, mouse, rat TFAP2A

    Additional mRNA sequence: 

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

    16 DOTS entries:

    DT.86842214  DT.100783422  DT.102842574  DT.91757999  DT.91673313  DT.100783424  DT.95214380  DT.95155656 
    DT.100718848  DT.121332473  DT.97772917  DT.100684667  DT.100783418  DT.121332363  DT.99967302  DT.100783417 

    Selected AceView cDNA sequences (see all 197):

    BM665338 CD671135 R81259 BM986955 CB134635 CD722290 BU631526 AI682417 
    BU733969 BE265200 AA455212 BF593276 AI570166 BM669517 BQ439716 AI362076 
    BM913283 BM722267 BM761995 H81894 BE855399 BQ673192 CR601719 CR604637 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TFAP2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGTCAATG
    TFAP2A Expression
    About this image


    TFAP2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 26) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 12 entries
             Cranial Neural Crest Cells Cranial Neural Crest
             PureStem 4D20.8, NCr-fac Progenitor
             HNK1+p75+ neural crest cells
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Progress Zone Cells Limb Bud
             Autopod
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Progress Zone Cells Limb Bud
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Progress Zone Cells Limb Bud
     
     Melanocytes (Integumentary System)    fully expand to see all 4 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
    TFAP2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFAP2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519880
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TFAP2A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfap2a1 , 5 transcription factor AP-2, alpha1, 5 94.43(n)1
    98.63(a)1
      13 (20.01 cM)5
    214181  NM_011547.31  NP_035677.21 
     407156755 
    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
    transcription factor AP-2 alpha (activating enhanc...
    96(a)
    1 ↔ 1
    GL343209.1(2365639-2393629)
    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-21 , 3 leg joint morphogenesis (sensu
    Holometabola) RNA more3
    AP-21
    50(a)3
    57.24(n)1
    55.06(a)1
      403981  NM_001275250.11  NP_001262179.11 
    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)
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    Paralogs for TFAP2A gene
    TFAP2C2  TFAP2D2  TFAP2E2  TFAP2B2  
    4 SIMAP similar genes for TFAP2A using alignment to 9 protein entries:     AP2A_HUMAN (see all proteins):
    TFAP2C    TFAP2B    TFAP2E    TFAP2D

    Find genes that share paralogs with TFAP2A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TFAP2A (see all 575)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0458394
    Branchiooculofacial syndrome (BOFS)4--see VAR_0458392 R G mis40--------
    VAR_0458414
    Branchiooculofacial syndrome (BOFS)4--see VAR_0458412 G E mis40--------
    VAR_0458404
    Branchiooculofacial syndrome (BOFS)4--see VAR_0458402 R G mis40--------
    VAR_0458384
    Branchiooculofacial syndrome (BOFS)4--see VAR_0458382 L P mis40--------
    rs1219095741,2
    Cpathogenic110328601(-) TCCGGA/GGGTGA 6 R G mis10--------
    rs1513445281,2
    Cuntested110328604(-) TGCTCC/G/TGGAGG 9 R G W mis10--------
    rs1513445251,2
    Cuntested110328654(-) GCGGCA/C/GGCTCT 9 Q P R mis10--------
    rs2019465491,2
    --10287036(+) TGGCC-/GCCCCC 3 -- int10--------
    rs1999124611,2
    C--10289866(-) TTGCTG/TTTTTT 3 -- us2k1 int10--------
    rs38342931,2
    C--10290449(-) cattc-/ATTC/ 
    ATTCATTC
    ttTCT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for TFAP2A (10393419 - 10419892 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TFAP2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667708CNV Deletion23128226

    Human Gene Mutation Database (HGMD): TFAP2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TFAP2A
    DNA2.0 Custom Variant and Variant Library Synthesis for TFAP2A

    (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.)
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    OMIM gene information: 107580   
    OMIM disorders: 113620  
    UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for TFAP2A:    
    About MalaCards
    branchiooculofacial syndrome    ectopic thymus    enophthalmos    childhood medulloblastoma
    exencephaly    hereditary hemorrhagic telangiectasia    medulloblastoma

    4 diseases from the University of Copenhagen DISEASES database for TFAP2A:
    Branchiooculofacial syndrome     Ectopic thymus     Enophthalmos     Cleft lip

    Find genes that share disorders with TFAP2A           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): TFAP2A
    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)
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    PubMed articles for TFAP2A gene, integrated from 10 sources (see all 780):
    (articles sorted by number of sources associating them with TFAP2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genes Dev. 1988)
    2. 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. (Mol. Cell. Biol. 1993)
    3. The genomic structure of the human AP-2 transcription factor. (PubMed id 8190633)1, 2, 9 Bauer R.... Buettner R. (Nucleic Acids Res. 1994)
    4. 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. (Genes Dev. 1991)
    5. 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. (Science 1991)
    6. Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2. (PubMed id 23382213)1, 2 Zarelli V.E. and Dawid I.B. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    7. Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study. (PubMed id 20932315)1, 4 Lu W....Zhu H. (BMC Med. Genet. 2010)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    9. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PubMed id 19115315)1, 2 Ding X.... Zhang J. (J. Cell. Biochem. 2009)
    10. TFAP2A mutations result in branchio-oculo-facial syndrome. (PubMed id 18423521)1, 2 Milunsky J.M.... Lin A.E. (Am. J. Hum. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 7020 HGNC: 11742 AceView: TFAP2A Ensembl:ENSG00000137203 euGenes: HUgn7020
    ECgene: TFAP2A H-InvDB: TFAP2A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    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

    (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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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