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TFAP2B Gene

protein-coding   GIFtS: 63
GCID: GC06P050833

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

(Previous name: transcription factor AP-2 beta (activating enhancer-binding...)
  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)
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Aliases
Transcription Factor AP-2 Beta (Activating Enhancer Binding Protein 2
Beta)1 2
     AP2-B2
Activating Enhancer-Binding Protein 2-Beta2 3     Activating Enhancer Binding Protein 2 Beta2
AP2-beta2 3     Transcription Factor AP-2-Beta2
Transcription Factor AP-2 Beta (Activating Enhancer-Binding Protein 2
Beta)1
     CHAR5
AP-2B2     

External Ids:    HGNC: 117431   Entrez Gene: 70212   Ensembl: ENSG000000081967   OMIM: 6016015   UniProtKB: Q924813   

Export aliases for TFAP2B gene to outside databases

Previous GC identifers: GC06P050788 GC06P050894 GC06P050517


(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 TFAP2B Gene:
This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers
with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation
and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family
members differ in their expression patterns and binding affinity for different promoters. This protein functions
as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char
syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. (provided
by RefSeq, Jul 2008)

GeneCards Summary for TFAP2B Gene:
TFAP2B (transcription factor AP-2 beta (activating enhancer binding protein 2 beta)) is a protein-coding gene. Diseases associated with TFAP2B include char syndrome, and skeletal muscle neoplasm. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TFAP2C.

UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481
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-beta appears to be required for normal face and limb development and for proper terminal
differentiation and function of renal tubular epithelia

Gene Wiki entry for TFAP2B 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:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TFAP2B gene promoter:
         ER-alpha   Elk-1   AP-4   c-Ets-1   HNF-1A   CREB   S8   HNF-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTFAP2B promoter sequence
   Search Chromatin IP Primers for TFAP2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TFAP2B


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

Entrez Gene cytogenetic band: 6p12   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12

TFAP2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFAP2B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P050833:  view genomic region     (about GC identifiers)

Start:
50,786,436 bp from pter      End:
50,815,326 bp from pter
Size:
28,891 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, 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., 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: AP2B_HUMAN, Q92481 (See protein sequence)
Recommended Name: Transcription factor AP-2-beta  
Size: 460 amino acids; 50474 Da
Subunit: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. 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
Sequence caution: Sequence=CAA64990.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA71047.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB41305.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC01130.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q5JYX6 Q9NQ63 Q9NU99 Q9UJI7 Q9Y214 Q9Y3K3
Alternative splicing: 2 isoforms:  Q92481-1   Q92481-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TFAP2B: NX_Q92481

Explore proteomics data for TFAP2B at MOPED

Post-translational modifications: 

  • Sumoylated on Lys-21; which inhibits transcriptional activity (Probable)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TFAP2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003212.2  
    ENSEMBL proteins: 
     ENSP00000342252   ENSP00000377265   ENSP00000263046  

    TFAP2B Human Recombinant Protein Products:

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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)
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    3 InterPro protein domains:
     IPR004979 TF_AP2
     IPR008122 TF_AP2_beta
     IPR013854 TF_AP2_C

    Graphical View of Domain Structure for InterPro Entry Q92481

    ProtoNet protein and cluster: Q92481

    2 Blocks protein domains:
    IPB004979 Transcription factor AP-2 signature
    IPB008122 Transcription factor AP-2 beta signature


    UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481
    Similarity: Belongs to the AP-2 family


    TFAP2B 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP2B_HUMAN, Q92481
    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-beta appears to be required for normal face and limb development and for proper terminal
    differentiation and function of renal tubular epithelia

         Genatlas biochemistry entry for TFAP2B:
    transcription factor 2,AP-2,beta regulating the expression of genes required for development of ectodermal tissues

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IDA7555706
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IDA7555706
    GO:0000983RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001105RNA polymerase II transcription coactivator activity ISS--
         
    TFAP2B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TFAP2B:
     Synthetic lethal with imatinib 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tfap2b):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     integument  limbs/digits/tail  mortality/aging  muscle  renal/urinary system 
     respiratory system 

    TFAP2B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tfap2btm1Rbu for TFAP2B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TFAP2B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TFAP2B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFAP2B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TFAP2B

    miRNA
    Products:
        
    miRTarBase miRNAs that target TFAP2B:
    hsa-mir-335-5p (MIRT017509)

    Block miRNA regulation of human, mouse, rat TFAP2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TFAP2B (see all 101):
    hsa-miR-411* hsa-miR-361-5p hsa-miR-3938 hsa-miR-300 hsa-miR-517a hsa-miR-200a hsa-miR-519a hsa-miR-371-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TFAP2B

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TFAP2B (NM_003221)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFAP2B

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2B


    (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
    AP2B_HUMAN, Q92481: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

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

    TFAP2B for ontologies           About GeneDecksing


    (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 TFAP2B About    
    See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience
    2Neural Crest Differentiation
    Neural Crest Differentiation
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism
    4Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for TFAP2B
        Apoptosis and Autophagy
    Neuroscience
    Glucose / Energy Metabolism

    1 BioSystems Pathway for TFAP2B
        Neural Crest Differentiation



    TFAP2B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFAP2B
    Interactions:

        GeneGlobe Interaction Network for TFAP2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for TFAP2B (Q924812, 3 ENSP000003772654) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VPS11Q9H2702, 3MINT-65489 I2D: score=4 
    HIST1H2ACQ930772, 3, ENSP000003213894MINT-65092 I2D: score=3 STRING: ENSP00000321389
    CITED4Q96RK13, ENSP000003617214I2D: score=2 STRING: ENSP00000361721
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    CITED1Q999663, ENSP000003885484I2D: score=1 STRING: ENSP00000388548
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA7559606
    GO:0001822kidney development ISS--
    GO:0003091renal water homeostasis ISS--
    GO:0006006glucose metabolic process IMP15940393
    GO:0006355regulation of transcription, DNA-templated IDA12169688

    TFAP2B for ontologies           About GeneDecksing



    (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 TFAP2B (AP2B)

    1 Novoseek inferred chemical compound relationship for TFAP2B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 0 5 16373417 (3), 19022887 (1), 16954217 (1)



    TFAP2B for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TFAP2B gene: 
    NM_003221.3  

    Unigene Cluster for TFAP2B:

    Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
    Hs.33102  [show with all ESTs]
    Unigene Representative Sequence: NM_003221
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344788 ENST00000393655 ENST00000489228 ENST00000263046(uc003pag.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat TFAP2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TFAP2B (see all 101):
    hsa-miR-411* hsa-miR-361-5p hsa-miR-3938 hsa-miR-300 hsa-miR-517a hsa-miR-200a hsa-miR-519a hsa-miR-371-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TFAP2B
      QuantiFast Probe-based Assays in human, mouse, rat TFAP2B

    Additional mRNA sequence: 

    AB299030.1 AK291172.1 AK313749.1 BC037225.1 X95694.1 

    7 DOTS entries:

    DT.113011  DT.113010  DT.92418765  DT.100686372  DT.100839448  DT.426709  DT.97823073 

    Selected AceView cDNA sequences (see all 55):

    BM675692 X95694 AU077117 AI275084 AA019703 BX112958 AW300385 BC037225 
    AU108033 BM681122 NM_003221 BM711307 BP380919 BF344594 AU116928 BP380475 
    BM666316 BP380487 AU118205 BE048362 CA487556 AA020889 BM931667 AI160950 

    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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    TFAP2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAGTTTGT
    TFAP2B Expression
    About this image


    TFAP2B 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
     
     Eye (Sensory Organs)    fully expand to see all 9 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Corneal Epithelium
             Human corneal endothelial cells
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
             Floor plate-like cells
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Tip Cells Ureteric Bud
             Renal Vesicle
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    TFAP2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFAP2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.33102
        Custom PCR Arrays for TFAP2B
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TFAP2B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2B

    (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 TFAP2B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfap2b1 , 5 transcription factor AP-2 beta1, 5 92.59(n)1
    100(a)1
      1 (6.19 cM)5
    214191  NM_009334.31  NP_033360.21 
     192089145 
    chicken
    (Gallus gallus)
    Aves TFAP2B1 transcription factor AP-2 beta (activating enhancer more 85.45(n)
    98(a)
      395713  NM_204895.1  NP_990226.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFAP2B6
    transcription factor AP-2 beta (activating enhance...
    96(a)
    1 ↔ 1
    1(122232394-122303474)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tfap2b1 transcription factor AP-2 beta (activating enhancer more 79.48(n)
    95.83(a)
      733930  NM_001045644.1  NP_001039109.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tfap2b1 transcription factor AP-2 beta 76.3(n)
    89.74(a)
      550545  NM_001024665.1  NP_001019836.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-23 leg joint morphogenesis (sensu
    Holometabola) RNA more
    55(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea K06A1.13 transcription factor AP-2 50(a)   II(6454923-6456389)   --


    ENSEMBL Gene Tree for TFAP2B (if available)
    TreeFam Gene Tree for TFAP2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TFAP2B gene
    TFAP2C2  TFAP2D2  TFAP2E2  TFAP2A2  
    4 SIMAP similar genes for TFAP2B using alignment to 1 protein entry:     AP2B_HUMAN:
    TFAP2A    TFAP2E    TFAP2C    TFAP2D

    TFAP2B 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), 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 TFAP2B (see all 689)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0169804
    Char syndrome (CHAR)4--see VAR_0169802 R Q mis40--------
    VAR_0169794
    Char syndrome (CHAR)4--see VAR_0169792 R S mis40--------
    VAR_0113184
    Char syndrome (CHAR)4--see VAR_0113182 A D mis40--------
    VAR_0113194
    Char syndrome (CHAR)4--see VAR_0113192 R C mis40--------
    VAR_0169784
    Char syndrome (CHAR)4--see VAR_0169782 R C mis40--------
    VAR_0169774
    Char syndrome (CHAR)4--see VAR_0169772 P R mis40--------
    rs132167331,2
    Cnon-pathogenic150705222(+) CCGGAA/CGTGCT 2 E D mis1 ese30--------
    rs28173941,2
    C,Hnon-pathogenic150717685(+) GGCTGT/GCGCCC 2 /A /S mis1 ese34Minor allele frequency- G:0.00NS EA 408
    rs803389101,2
    Cpathogenic150704996(+) ACCCCC/GCTACC 2 P R mis10--------
    rs803389121,2
    Cpathogenic150717619(+) CAGGCA/C/TGTTTG 3 S R C mis10--------

    HapMap Linkage Disequilibrium report for TFAP2B (50786436 - 50815326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TFAP2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830660CNV Gain17160897

    Human Gene Mutation Database (HGMD): TFAP2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TFAP2B
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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: 601601   
    OMIM disorders: 169100  
    UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481
  • Char syndrome (CHAR) [MIM:169100]: An autosomal dominant disorder characterized by patent ductus
    arteriosus (PDA), facial dysmorphism and hand anomalies. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20 diseases for TFAP2B:    
    About MalaCards
    char syndrome    skeletal muscle neoplasm    patent ductus arteriosus    exencephaly
    bipolar disorder    insulin resistance    cervical cancer    retinoblastoma
    renal cell carcinoma    obesity    diabetes mellitus    cervicitis
    schizophrenia    neuroblastoma    lung cancer    multiple myeloma
    breast cancer    myeloma    endotheliitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for TFAP2B:
    Patent ductus arteriosus     Skeletal muscle neoplasm

    TFAP2B for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for TFAP2B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    char syndrome 89.3 4 11505339 (3), 11137286 (1)
    insulin resistance 29.2 3 20065963 (1), 19022887 (1), 16954217 (1)
    bipolar disorder 16.5 1 16787706 (1)
    tumors 0 6 19336370 (2), 17630431 (2)
    cancer 0 3 17630431 (1)

    GeneTests: TFAP2B
    GeneReviews: TFAP2B
    Genetic Association Database (GAD): TFAP2B
    Human Genome Epidemiology (HuGE) Navigator: TFAP2B (18 documents)

    Export disorders for TFAP2B 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 TFAP2B gene, integrated from 10 sources (see all 97):
    (articles sorted by number of sources associating them with TFAP2B)
        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. Investigation of transcription factor AP-2 beta genotype in women with premenstrual dysphoric disorder. (PubMed id 15722186)1, 4, 9 Damberg M....Eriksson E. (Neurosci. Lett. 2005)
    3. Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene. (PubMed id 18358611)1, 4, 9 Hensch T....Brocke B. (Neurosci. Lett. 2008)
    4. Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. (PubMed id 15940393)1, 4, 9 Maeda S....Nakamura Y. (J. Hum. Genet. 2005)
    5. Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology. (PubMed id 19184334)1, 4, 9 Nilsson K.W....Damberg M. (J Neural Transm 2009)
    6. Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance. (PubMed id 17123722)1, 4, 9 Nilsson K.W....Oreland L. (Neurosci. Lett. 2007)
    7. Novel TFAP2B mutations that cause Char syndrome provide a genotype- phenotype correlation. (PubMed id 11505339)1, 2, 9 Zhao F.... Gelb B.D. (Am. J. Hum. Genet. 2001)
    8. Transcription factor AP-2beta genotype associated with anxiety-related personality traits in women. A replication study. (PubMed id 14673213)1, 4, 9 Damberg M....JAPnsson E.G. (Neuropsychobiology 2003)
    9. No association between a transcription factor Activating Protein 2beta (AP-2beta) gene variant and schizophrenia. (PubMed id 12270648)1, 4, 9 JAPnsson E.G....Sedvall G.C. (Neurosci. Lett. 2002)
    10. Transcription factor AP2 beta involved in severe female alcoholism. (PubMed id 19778525)1, 4, 9 Nordquist N....Hallman J. (Brain Res. 2009)

    (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: 7021 HGNC: 11743 AceView: TFAP2B Ensembl:ENSG00000008196 euGenes: HUgn7021
    ECgene: TFAP2B H-InvDB: TFAP2B

    (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 TFAP2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFAP2B Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/56932/
    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 TFAP2B gene:
    Search GeneIP for patents involving TFAP2B

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



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