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TFAP2A Gene

protein-coding   GIFtS: 63

GC06M010503
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
(Previous name: transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: TFAP2, AP2TF)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
AP-2 1, 2, 3
AP-2alpha 2
AP2-alpha 3
AP2TF 2, 3, 5
BOFS 2, 5
FLJ51761 2
OTTHUMP00000016013 2
OTTHUMP00000016014 2
TFAP2 2, 3
Descriptions
AP-2 transcription factor 3
Activating enhancer-binding protein 2 alpha 2, 3
Activator protein 2 3
transcription factor AP-2 alpha 2
transcription factor AP-2 alpha (activating enhancer
binding protein 2 alpha) 2
transcription factor AP-2 alpha (activating
enhancer-binding protein 2 alpha) 1, 2
External Ids
HGNC: 117421
Entrez Gene: 70202
UniProtKB: P055493
Ensembl: ENSG000001372037
Search outside databases for aliases for TFAP2A gene

Previous GC identifers: GC06M010455 GC06M010506

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

EntrezGene summary for TFAP2A:
AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of
transcription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 and
metallothionein (MIM 156350) promoters.[supplied by OMIM]

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 (By similarity)

Gene Wiki entry for TFAP2A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the TFAP2A gene  

Entrez Gene cytogenetic band: 6p24   Ensembl cytogenetic band:  6p24.3   HGNC cytogenetic band: 6pter-p22.3

TFAP2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M010503:     (about GC identifiers)

Start:
10,504,902 bp from pter
End:
10,527,783 bp from pter
Size:
22,882 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000006.10  NT_007592.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
Subcellular location: Nucleus
Secondary accessions: Q13777
Alternative splicing: 4 isoforms:  P05549-1   P05549-3   P05549-4   P05549-2   (Experimental confirmation may be lacking for some isoforms)

Post-translational modifications:

  • Sumoylated on Lys-10; which inhibits transcriptional activity (Probable)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_001027451.1  NP_001035890.1  NP_003211.1  


    ENSEMBL proteins: 
    ENSP00000368928 ENSP00000368924 ENSP00000368922 ENSP00000368933 ENSP00000316516 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (AP2 alpha + beta, AP2 alpha)
    Human Recombinant Proteins from Abnova (TFAP2A)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IMP12586840
    About this table

    Antibodies for TFAP2A: 
    Invitrogen Antibodies for TFAP2A
    Millipore Mono- and Polyclonal Antibodies for the study of TFAP2A
    Sigma-Aldrich Antibody Arrays and Antibodies for TFAP2A
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for TFAP2A  (AP-2-alpha)
    Antibodies from Abcam (AP2 alpha + beta, AP2 alpha), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TFAP2A)
    Novus Biologicals Antibodies for TFAP2A

    Assays for TFAP2A: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    3 InterPro domains/families:
     IPR004979 TF_AP2
     IPR013854 TF_AP2_C
     IPR008121 TF_AP2_alpha_N


       GeneDecks  TFAP2A for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TFAP2A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TFAP2A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_003220

                  Applied Biosystems Silencer® siRNAs for TFAP2A

                  Sigma-Aldrich siRNA for TFAP2A  
                         Sigma-Aldrich shRNA for TFAP2A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TFAP2A
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001032280
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001032280
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001032280 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_003220

    UniProtKB/Swiss-Prot: AP2A_HUMAN, P05549
    Function: Sequence-specific DNA-binding protein that interacts with inducible viral and 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 (By similarity)

    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

    15/19 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Tcfap2a) (see all 19 ):

    behavior/neurologicalcellularcraniofacialdigestive/alimentary
    embryogenesisendocrine/exocrine glandgrowth/sizehearing/vestibular/earlethality-postnatal
    lethality-prenatal/perinatallimbs/digits/tailnervous systemnormalpigmentation

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity NAS1916817
    GO:0003713 transcription coactivator activity TAS8321221
    GO:0046983 protein dimerization activity IDA12072434
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    4 Invitrogen iPath™ Online BioAtlas - Pathways for TFAP2A (Maps provided by GeneGo):
     MAPK cascade. Part IV, Map 3. Nuclear function of p38-MAPK
     Interactions of Integrins with extracellular matrix
     Start of the mitosis
     Transcription regulation of aminoacid metabolism

       GeneDecks  TFAP2A for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for TFAP2A
     Selected targets of C/EBPalpha

       GeneDecks  TFAP2A for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  TFAP2A 


    5/91 Interacting proteins for TFAP2A (P055491, 2 ENSP000003689333) via UniProtKB, MINT, and/or STRING (see all 91 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CITED2Q999671, ENSP000003566233EBI-347351, EBI-937732 STRING (score=.995)
    EP300Q094721, ENSP000002632533EBI-347351, EBI-447295 STRING (score=.853)
    NPM1P067482MINT-4544864 MINT-4544816 MINT-4544848 MINT-4544800 MINT-4544829 MINT-4544883
    NPM1P21P067482MINT-4544864 MINT-4544816 MINT-4544848 MINT-4544800 MINT-4544829 MINT-4544883
    AP2A1ENSP000003519263STRING (score=.991)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006350 transcription IEA--
    GO:0006357 regulation of transcription from RNA polymerase II promoter TAS8321221
    GO:0007398 ectoderm development TAS8661133
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TFAP2A
    10/54 Novoseek chemical compound relationships for TFAP2A gene (see all 54 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryudocan 60.17 1 8797100 (1)
    manganese superoxide 49.78 1 11853549 (1)
    glycerol 3-phosphate 48.73 8 2249632 (1), 1753215 (1), 11884404 (1), 1665451 (1) (see all 7)
    gw9662 44.25 3 17396233 (1), 16696951 (1)
    fatty acid 41.00 48 1753215 (3), 17396233 (2), 17481768 (2), 15684432 (2) (see all 32)
    tyrosine 37.55 29 9497313 (3), 8918456 (3), 16581796 (2), 11146001 (2) (see all 22)
    mannose 6-phosphate 36.37 3 16914521 (1), 18817526 (1)
    phosphatidylinositol phosphate 33.72 1 12913109 (1)
    cyclic amp 31.42 12 9447955 (1), 10520459 (1), 10211885 (1), 18824087 (1) (see all 9)
    lipid 30.86 33 9361822 (2), 10842659 (2), 11322759 (2), 16936206 (1) (see all 27)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TFAP2A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TFAP2A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_003220

                  Sigma-Aldrich siRNA for TFAP2A  
                         Sigma-Aldrich shRNA for TFAP2A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001032280  NM_001042425  NM_003220  

    REFSEQ mRNAs for TFAP2A gene (3 alternative transcripts): 

    NM_001032280.2   NM_001042425.1   NM_003220.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001032280  NM_001042425  NM_003220  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001032280
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001032280
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001032280 

    Additional cDNA sequence: 

    AK296737.1 BC017754.1 BC071713.1 CR601719.1 CR604637.1 FJ794945.1 M61156.1 

    17 DOTS entries:

    DT.86842214  DT.100783422  DT.91757999  DT.102842574  DT.91673313  DT.100783424  DT.95214380  DT.95155656 
    DT.100718848  DT.121332473  DT.97772917  DT.100682139  DT.100684667  DT.100783418  DT.121332363  DT.99967302 
    DT.100783417 

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

    BQ673192 AI570166 CB853129 BG251670 CA945028 BM669517 BE855399 BM714268 
    AI223848 CD671135 AI362076 BF432486 BU631526 BU956975 AW026563 BU733969 
    BQ220260 CR601719 R81259 BM761995 BU527990 BM692663 BM722267 BU190540 

    highest scoring ESTs for TFAP2A:

    AL546403 BG252096 BM724073 CF593975 M36711 M61156 X52611 AA075806 AA079248 AA454871 

    Unigene Cluster for TFAP2A:

    Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
    Hs.519880  [show with all ESTs]
    Unigene Representative Sequence: NM_001032280


    GeneLoc Exon Structure

    5 Ensembl transcripts including schematic representations:
    ENST00000379608  ENST00000379604  ENST00000379602  ENST00000379613  ENST00000319516  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TFAP2A expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TFAP2A

    1 / 2 / 3

    10 probe-sets matching TFAP2A gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    792_s_at2, 3 U95-A 1 1.00 1.00 0.26 1.02 X52611 0.80 1.00 0.91 1
    32154_at2, 3 U95-A 1 1.00 1.00 0.94 0.89 M36711 0.80 1.00 0.91 1

    32155_at2, 3 U95-A 2 1.00 0.97 0.45 0.53 M61156 0.80 1.00 0.91 1

    1177_at2, 3 U95-A 1 0.31 1.00 0.69 1.25 HG2465-HT4871 0.20 1.00 0.72 1

    210669_at2, 3 U133-A 1 1.00 1.00 -- -- M61156 0.80 1.00 0.91 1

    204653_at2, 3 U133-A 1 1.00 1.00 -- -- BF343007 0.60 1.00 0.82 1

    204654_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_003220 0.60 1.00 0.82 1

    210669_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    204653_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    204654_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  TFAP2A for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCTGTCAATG

    SOURCE GeneReport for Unigene cluster: Hs.519880

    Expression variation in blood from EXPOLDB for TFAP2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for TFAP2A gene from 5/13 species (see all 13 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TFAP2A1   -- transcription factor AP-2 alpha (activating enhancer more 96.49(n)
    99.08(a)
    488213  XM_843875.1  XP_848968.1 
    chimpanzee
    (Pan troglodytes)
    TFAP2A1   -- transcription factor AP-2 alpha (activating enhancer more 99.92(n)
    100(a)
    462426  XM_001166719.1  XP_001166719.1 
    cow
    (Bos taurus)
    TFAP2A1   -- transcription factor AP-2 alpha (activating enhancer more 96.41(n)
    98.63(a)
    505849  XM_875452.2  XP_880545.1 
    rat
    (Rattus norvegicus)
    Tcfap2a1   -- transcription factor AP-2, alpha 94.23(n)
    98.82(a)
    306862  XM_225238.4  XP_225238.4 
    mouse
    (Mus musculus)
    Tcfap2a1, 5 13 (25.00 cM)5
    transcription factor AP-2, alpha1, 5 94.58(n)1
    98.63(a)1
    214181  NM_011547.21  NP_035677.21 
     AB2215785  AI1959645  (see all 25)
    About this table        Species with no ortholog for TFAP2A

    ENSEMBL Gene Tree for TFAP2A
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for TFAP2A gene
    TFAP2C2  TFAP2B2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/158 NCBI SNPs in TFAP2A are shown (see all 158 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 128)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs16754141,2
    A,C,F,H10520174(-) AGAAAA/GGAGGG 3 -- int1 ut51 ese3 trp39Minor allele frequency- G:0.26MN EU EA WA NA 966
    rs16217001,2
    A,C,F,H10528084(-) GGCTAG/ACCATG 1 -- ng318Minor allele frequency- A:0.13EA NA EU WA 564
    rs3030561,2
    A,C,F,H10528467(+) ACTCAG/CACTTA 1 -- ng318Minor allele frequency- C:0.21MN EA EU WA 1118
    rs14610121,2
    A,C,F10524004(-) AGGGGG/TTGGCT 2 -- int1 ng314Minor allele frequency- T:0.06EA NA MN 246
    rs104560131,2
    F,H10506548(+) gGAAGG/TGTTGC 3 -- ut314Minor allele frequency- T:0.01EU EA WA 418
    --
    rs27631711,2
    F,H10505781(+) TCCCCC/AAAACA 3 -- ut314Minor allele frequency- A:0.01EU EA WA 420
    rs3030541,2
    A,F10524624(-) CAAAAC/ACGAAA 2 -- ng31 int11Minor allele frequency- A:0.05MN 184
    rs168933581,2
    F,H10505012(+) ATACAT/CTGGGT 3 -- ut317Minor allele frequency- C:0.02NA EU EA WA 560
    rs27631721,2
    H10506299(+) gttttG/Ttttaa 3 -- ut314Minor allele frequency- T:0.00EU EA WA 404
    rs27631681,2
    H10505113(+) TACTTG/TAGGGA 3 -- ut31 ese34Minor allele frequency- T:0.00EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for TFAP2A (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 107580   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
  • 10/64 Novoseek disease relationships for TFAP2A gene (see all 64 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    choriocarcinoma 49.82 6 11014230 (1), 11298758 (1), 11798181 (1), 9231796 (1) (see all 5)
    teratocarcinoma 41.59 6 8321221 (1), 9858613 (1), 9889285 (1), 7926729 (1)
    melanoma 38.11 110 14517845 (5), 12789289 (5), 9817279 (5), 11596105 (4) (see all 30)
    metastatic melanoma 35.59 7 12789289 (2), 9810513 (1), 12741683 (1), 11310795 (1) (see all 6)
    tumors 33.55 75 9817279 (6), 12226108 (5), 18218085 (5), 14996719 (3) (see all 40)
    carcinoma non-small cell lung 32.64 1 15864740 (1)
    breast cancer 32.00 63 15196531 (5), 9850080 (5), 15467710 (5), 12429639 (5) (see all 23)
    insulin sensitivity 24.55 5 10842659 (1), 18324929 (1), 15686734 (1), 11891416 (1)
    lung carcinoma 23.43 3 17237224 (1), 1953710 (1), 14551210 (1)
    dysplastic nevi 16.00 2 11596105 (1), 16946713 (1)
    About this table

    Human Gene Mutation Database: TFAP2A

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/616 PubMed articles for TFAP2A gene (see all 616 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for TFAP2A Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Activating_protein_2
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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