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TFAP2C Gene

protein-coding   GIFtS: 60
GCID: GC20P055204

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

(Previous name: transcription factor AP-2 gamma (activating enhancer-binding...)
  See TFAP2C-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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Aliases
Transcription Factor AP-2 Gamma (Activating Enhancer Binding Protein 2
Gamma)1 2
     ERF12
Transcription Factor AP-2 Gamma (Activating Enhancer-Binding Protein 2
Gamma)1 2
     TFAP2G2
Estrogen Receptor Factor 11 2     hAP-2g2
Activating Enhancer-Binding Protein 2 Gamma2 3     Transcription Factor AP-2 Gamma2
Transcription Factor ERF-12 3     AP2-gamma3
AP2-GAMMA2     

External Ids:    HGNC: 117441   Entrez Gene: 70222   Ensembl: ENSG000000875107   OMIM: 6016025   UniProtKB: Q927543   

Export aliases for TFAP2C gene to outside databases

Previous GC identifers: GC20P054932 GC20P055842 GC20P055889 GC20P054637 GC20P051987


(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 TFAP2C Gene:
The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the
activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with
other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the
development of the eyes, face, body wall, limbs, and neural tube. (provided by RefSeq, Jul 2008)

GeneCards Summary for TFAP2C Gene:
TFAP2C (transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)) is a protein-coding gene. Diseases associated with TFAP2C include exencephaly, and endometrial carcinoma. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TFAP2D.

UniProtKB/Swiss-Prot: AP2C_HUMAN, Q92754
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

Gene Wiki entry for TFAP2C 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_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the TFAP2C gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTFAP2C promoter sequence
   Search Chromatin IP Primers for TFAP2C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TFAP2C


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

Entrez Gene cytogenetic band: 20q13.2   Ensembl cytogenetic band:  20q13.31   HGNC cytogenetic band: 20q13.2

TFAP2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFAP2C gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P055204:  view genomic region     (about GC identifiers)

Start:
55,204,358 bp from pter      End:
55,214,339 bp from pter
Size:
9,982 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AP2C_HUMAN, Q92754 (See protein sequence)
Recommended Name: Transcription factor AP-2 gamma  
Size: 450 amino acids; 49177 Da
Subunit: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity).
Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction
represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates
TFAP2B-transcriptional activity
Secondary accessions: O00685 O00730 Q86V30 Q8IVB6 Q9P1X2

Explore the universe of human proteins at neXtProt for TFAP2C: NX_Q92754

Explore proteomics data for TFAP2C at MOPED

Post-translational modifications: 

  • Sumoylated on Lys-10; which inhibits transcriptional activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TFAP2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003213.1  
    ENSEMBL proteins: 
     ENSP00000201031   ENSP00000390857   ENSP00000442274  

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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    TFAP2C Antibody Products:

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    Search eBioscience for ELISAs for TFAP2C 


    (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
     IPR008123 TF_AP2_gamma

    Graphical View of Domain Structure for InterPro Entry Q92754

    ProtoNet protein and cluster: Q92754

    2 Blocks protein domains:
    IPB004979 Transcription factor AP-2 signature
    IPB008123 Transcription factor AP-2 gamma signature


    UniProtKB/Swiss-Prot: AP2C_HUMAN, Q92754
    Domain: The WW-binding motif mediates interaction with WWOX
    Similarity: Belongs to the AP-2 family


    Find genes that share domains with TFAP2C           About GenesLikeMe


    (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,
    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: AP2C_HUMAN, Q92754
    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
    Induction: During retinoic acid-mediated differentiation

         Genatlas biochemistry entry for TFAP2C:
    transcription factor 2 gamma (AP2 gamma) regulating the expression of genes required for development of ectodermal
    tissues

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding ----
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding IEA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA11278550
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA11278550
         
    Find genes that share ontologies with TFAP2C           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tfap2c):
     embryogenesis  growth/size/body  mortality/aging  normal 

    Find genes that share phenotypes with TFAP2C           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TFAP2C: Tfap2ctm1.1Hsc Tfap2ctm1Will

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TFAP2C
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFAP2C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TFAP2C

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

    miRNA
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    miRTarBase miRNAs that target TFAP2C:
    hsa-mir-10b-5p (MIRT006367), hsa-mir-29c-3p (MIRT006384), hsa-mir-10a-5p (MIRT025625)

    Block miRNA regulation of human, mouse, rat TFAP2C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TFAP2C (see all 20):
    hsa-miR-498 hsa-miR-320a hsa-miR-137 hsa-miR-10b hsa-miR-200a hsa-miR-29c hsa-miR-29a hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidTFAP2C 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for TFAP2C
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2C


    (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
    AP2C_HUMAN, Q92754: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with TFAP2C           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 TFAP2C About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    2Selected targets of ESR1
    Selected targets of ESR1
    3Apoptosis and Autophagy
    Apoptosis and Autophagy


    Find genes that share SuperPaths with TFAP2C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for TFAP2C
        Apoptosis and Autophagy
    Cell Cycle / Checkpoint Control



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFAP2C
    Interactions:

        GeneGlobe Interaction Network for TFAP2C

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

    Selected Interacting proteins for TFAP2C (Q927541, 3 ENSP000002010314) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2IP632791, 3, ENSP000003248974EBI-937309,EBI-80168 I2D: score=2 STRING: ENSP00000324897
    CITED2Q999671, 3, ENSP000003566234EBI-937309,EBI-937732 I2D: score=3 STRING: ENSP00000356623
    TP53P046373, ENSP000002693054I2D: score=3 STRING: ENSP00000269305
    CITED4Q96RK13, ENSP000003617214I2D: score=2 STRING: ENSP00000361721
    CITED1Q999663, ENSP000003885484I2D: score=1 STRING: ENSP00000388548
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA11278550
    GO:0001829trophectodermal cell differentiation IEA--
    GO:0001942hair follicle development IEA--
    GO:0003334keratinocyte development IEA--
    GO:0006355regulation of transcription, DNA-templated ----

    Find genes that share ontologies with TFAP2C           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 TFAP2C (AP2C)

    3 Novoseek inferred chemical compound relationships for TFAP2C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 44 1 11773066 (1)
    estrogen 29.2 4 7891714 (1), 15467710 (1), 9113991 (1), 17330235 (1)
    retinoic acid 6.35 3 15623634 (2), 15940248 (1)



    Find genes that share compounds with TFAP2C           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 )
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    REFSEQ mRNAs for TFAP2C gene: 
    NM_003222.3  

    Unigene Cluster for TFAP2C:

    Transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
    Hs.473152  [show with all ESTs]
    Unigene Representative Sequence: NM_003222
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000201031(uc002xya.3 uc010zzi.2) ENST00000416606 ENST00000544508

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TFAP2C (see all 20):
    hsa-miR-498 hsa-miR-320a hsa-miR-137 hsa-miR-10b hsa-miR-200a hsa-miR-29c hsa-miR-29a hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidTFAP2C 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat TFAP2C
      QuantiFast Probe-based Assays in human, mouse, rat TFAP2C

    Additional mRNA sequence: 

    AK301572.1 AK314272.1 BC035664.1 BC051829.1 U85658.1 X95693.1 

    3 DOTS entries:

    DT.112064  DT.120798214  DT.95365798 

    Selected AceView cDNA sequences (see all 59):

    AA632055 AA394236 AA035210 BC035664 NM_003222 BE327517 BC051829 AI077463 
    BX108462 AI002216 AA399334 AW593477 AI703244 AA300897 BX360337 X95693 
    BF108600 AI638098 AI972428 BX369319 AI093974 BM546820 CB305813 BG675021 

    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)
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    TFAP2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TFAP2C Expression
    About this image


    TFAP2C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Trophoblast Cells Trophoblast
     
     Gonad
             Primordial Germ Cells Primitive Gonad
             Primordial germ cell-like cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
    TFAP2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFAP2C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473152
        Custom PCR Arrays for TFAP2C
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2C

    (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 TFAP2C gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfap2c1 , 5 transcription factor AP-2, gamma1, 5 83.07(n)1
    89.76(a)1
      2 (94.87 cM)5
    214201  NM_009335.21  NP_033361.21 
     1725495935 
    chicken
    (Gallus gallus)
    Aves TFAP2C1 transcription factor AP-2 gamma (activating enhancer more 74.77(n)
    77.93(a)
      419327  XM_417497.4  XP_417497.2 
    lizard
    (Anolis carolinensis)
    Reptilia TFAP2C6
    transcription factor AP-2 gamma (activating enhanc...
    73(a)
    1 ↔ 1
    GL343217.1(1784253-1820789)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684932 hypothetical protein MGC68493 72.26(n)    BC059962.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tfap2c1 transcription factor AP-2 gamma (activating enhancer more 65.15(n)
    67.88(a)
      494033  NM_001008576.1  NP_001008576.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-23 leg joint morphogenesis (sensu
    Holometabola) RNA more
    49(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea K06A1.13 transcription factor AP-2 51(a)   II(6454923-6456389)   --


    ENSEMBL Gene Tree for TFAP2C (if available)
    TreeFam Gene Tree for TFAP2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TFAP2C gene
    TFAP2D2  TFAP2E2  TFAP2B2  TFAP2A2  
    4 SIMAP similar genes for TFAP2C using alignment to 3 protein entries:     AP2C_HUMAN (see all proteins):
    TFAP2A    TFAP2D    TFAP2E    TFAP2B

    Find genes that share paralogs with TFAP2C           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 TFAP2C (see all 270)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1479628521,2
    C--55202714(+) AATACC/TAGGAG 1 -- us2k10--------
    rs1489984011,2
    C--55202813(+) CTCCTG/TAGTGC 1 -- us2k10--------
    rs794930731,2
    C,F--55202891(+) CCGGTC/TGGAAA 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1428225441,2
    --55202928(+) AGGCCA/GGGGGA 1 -- us2k10--------
    rs38271021,2
    C,F,H--55202984(+) CCACCC/G/TGGGTC 1 -- us2k119NS EA NA WA CSA 2344
    rs786838581,2
    C,F--55203006(+) TAAAGT/CTCAAA 1 -- us2k11Minor allele frequency- C:0.07NA 120
    rs1914507431,2
    --55203055(+) ATTCCA/GTGGAT 1 -- us2k10--------
    rs1828230051,2
    --55203126(+) ATCGTA/TTTCAG 1 -- us2k10--------
    rs1887361981,2
    --55203196(+) GAGCCA/CGTTGG 1 -- us2k10--------
    rs72711331,2
    C,F,A--55203471(+) ACTTCC/ATGCAC 1 -- us2k11Minor allele frequency- A:0.07WA 118

    HapMap Linkage Disequilibrium report for TFAP2C (55204358 - 55214339 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TFAP2C:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1005986CNV Deletion20482838
    nsv834015CNV Loss17160897
    nsv525425CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601602    OMIM disorders: --

    2 diseases for TFAP2C:    
    About MalaCards
    exencephaly    endometrial carcinoma


    Find genes that share disorders with TFAP2C           About GenesLikeMe

    6 Novoseek inferred disease relationships for TFAP2C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast carcinoma 57.7 12 16867219 (3), 16636674 (2), 9113991 (2), 15623634 (1) (see all 7)
    breast cancer 44.7 19 19671168 (4), 9850080 (3), 18825690 (3), 15467710 (3) (see all 7)
    carcinoma 34.6 10 11429425 (3), 15623634 (1), 16420676 (1), 12490322 (1) (see all 8)
    endometrial carcinoma 25.6 1 9113991 (1)
    tumors 16.6 22 15623634 (5), 15830141 (3), 16416736 (2), 19671168 (2) (see all 8)
    cancer 0 1 17330235 (1)

    Genetic Association Database (GAD): TFAP2C
    Tumor Gene Database (TGDB): TFAP2C

    Export disorders for TFAP2C 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 TFAP2C gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with TFAP2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors. (PubMed id 8661133)1, 2, 3, 9 Williamson J.A....Hurst H.C. (Genomics 1996)
    2. Identification of ERF-1 as a member of the AP2 transcription factor family. (PubMed id 9113991)1, 2, 9 McPherson L.A.... Weigel R.J. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor. (PubMed id 15548692)1, 2, 9 Aqeilan R.I....Croce C.M. (Cancer Res. 2004)
    4. 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)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2. (PubMed id 12586840)1, 2 Braganca J....Bhattacharya S. (J. Biol. Chem. 2003)
    7. Transcription factor AP-2 interacts with the SUMO-conjugating enzyme UBC9 and is sumolated in vivo. (PubMed id 12072434)1, 2 Eloranta J.J. and Hurst H.C. (J. Biol. Chem. 2002)
    8. Human CREB-binding protein/p300-interacting transactivator with ED- rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2. (PubMed id 11744733)1, 2 Braganca J.... Bhattacharya S. (J. Biol. Chem. 2002)
    9. Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. (PubMed id 11694877)1, 2 Bamforth S.D.... Bhattacharya S. (Nat. Genet. 2001)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (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: 7022 HGNC: 11744 AceView: TFAP2C Ensembl:ENSG00000087510 euGenes: HUgn7022
    ECgene: TFAP2C H-InvDB: TFAP2C

    (According to HUGE)
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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 TFAP2C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFAP2C 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 TFAP2C gene:
    Search GeneIP for patents involving TFAP2C

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



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