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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFAP2A Gene

protein-coding   GIFtS: 64
GCID: GC06M010393

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

(Previous name: transcription factor AP-2 alpha (activating enhancer-binding...)
(Previous symbols: TFAP2, AP2TF)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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   

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 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 dominant cleft palate, and among its related super-pathways are Apoptosis and survival Caspase cascade and Wnt signaling pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
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: 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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. Interacts
with KCTD15; this interaction inhibits TFAP2A transcriptional activation
Subcellular location: Nucleus
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:

  • UniProtKB: Sumoylated on Lys-10; which inhibits transcriptional activity (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05549

  • TFAP2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TFAP2A Protein Expression
    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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    OriGene Protein Over-expression Lysate for TFAP2A
    OriGene MassSpec for TFAP2A 
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    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. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--

    TFAP2A for ontologies           About GeneDecksing



    TFAP2A Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TFAP2A
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    LSBio Antibodies in human, mouse, rat for TFAP2A 

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    Browse CLIAs at Cloud-Clone Corp.


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


    TFAP2A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IDA18718911
    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--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IDA7555706
         
    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:
         MGI mouse knock-outs for TFAP2A: Tfap2atm1Will Tfap2atm1Jae

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TFAP2A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TFAP2A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFAP2A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TFAP2A 

    10/580 SABiosciences Target genes for TFAP2A (see all 580):
    AAAS AAK1 AARSD1 ACADS ACADVL ACAN ACSL1 ACSL4 ACSL6 ADAM11

    miRNA
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    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 plasmidTFAP2A 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of TFAP2A 

    Cell Line
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    PureStem 7SMOO32, NCr-fac & Meso Progenitor, PureStem E15, Meso-prx/latp Progenitor,
    PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
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    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, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TFAP2A About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Caspase cascade in apoptosis0.42
    2Wnt signaling pathway
    Wnt Signaling Pathway NetPath0.37
    3Neuroscience
    Neuroscience
    4Neural Crest Differentiation
    Neural Crest Differentiation
    5Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 CentralTM 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 (P055491, 2, 3 ENSP000003689244) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPM1P067482, 3, ENSP000002969304MINT-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): 5/55 biological process terms (GO ID links to tree view) (see all 55):    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--

    TFAP2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (AP2A)

    10/94 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)

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

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TFAP2A
      QIAGEN 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 

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

    BQ220260 BM913283 BM692663 BM846625 BG251670 BU190540 AA454871 BE855399 
    AA455212 BF593276 BM761995 BU733969 CD722290 BM665338 BU527990 BM722267 
    CR604637 BU631526 H81894 BQ439716 BM714268 BC017754 BM719170 BM986955 

    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)      TFAP2A embryonic expression: see
    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 
     5/37 selected tissues (see all 37) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 10 entries
             Cranial Neural Crest Cells Cranial Neural Crest
             PureStem 4D20.8, NCr-fac Progenitor
             HNK1+p75+ cells ( Derivation of neural crest cells and their progeny (MS-5 feeder...
     
     Eye (Sensory Organs)    fully expand to see all 8 entries
             Late Immature Amacrine Cells Inner Nuclear Layer
             Human Trabecular Meshwork Cells (HTMC)   
             retinal amacrine cell p0   
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Progress Zone Cells Limb Bud
             Autopod
             limb/hindlimb/hind-paw   
     
     Epidermis (Integumentary System)    fully expand to see all 7 entries
             Stratified Epidermis
             Human EpiDermal Keratinocytes (HEK)   

    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 7/16 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
    Uncharacterized protein
    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
    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 9 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, 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) 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

    10/575 SNPs in TFAP2A are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/77 diseases for TFAP2A (see all 77):    About MalaCards
    branchiooculofacial syndrome    dominant cleft palate    ectopic thymus    enophthalmos
    very long-chain acyl-coenzyme a dehydrogenase deficiency    hereditary hemorrhagic telangiectasia    childhood medulloblastoma    exencephaly
    nonalcoholic steatohepatitis    medulloblastoma    cleft palate    osteonecrosis
    hepatoblastoma    cutaneous malignant melanoma    seminoma    teratocarcinoma
    neurofibroma    pituitary tumors    clear cell renal cell carcinoma    coloboma

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

    TFAP2A for disorders           About GeneDecksing

    10/65 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)
    About This Section

    PubMed articles for TFAP2A gene, integrated from 9 sources (see all 774):
    (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. (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. (1993)
    3. The genomic structure of the human AP-2 transcription factor. (PubMed id 8190633)1, 2, 9 Bauer R.... Buettner R. (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. (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. (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. (2013)
    7. Genes encoding critical transcriptional activators fo r murine neural tube development and human spina bifida: a case-control study. (PubMed id 20932315)1, 4 Lu W....Zhu H. (2010)
    8. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    9. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PubMed id 19115315)1, 2 Ding X....Zhang J. (2009)
    10. TFAP2A mutations result in branchio-oculo-facial syndrome. (PubMed id 18423521)1, 2 Milunsky J.M....Lin A.E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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