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

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...)
Microbiology & Infectious Diseases Congress
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(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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 patent ductus arteriosus, and char syndrome. 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 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 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 SABiosciences Chromatin IP Primers for TFAP2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus (Probable)
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:

  • UniProtKB: Sumoylated on Lys-21; which inhibits transcriptional activity (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92481

  • TFAP2B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TFAP2B Protein Expression
    REFSEQ proteins: NP_003212.2  
    ENSEMBL proteins: 
     ENSP00000342252   ENSP00000377265   ENSP00000263046  

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

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    TFAP2B for ontologies           About GeneDecksing



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    (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
     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,
    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: 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): 5/17 molecular function terms (GO ID links to tree view) (see all 17):    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  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 - Custom generated mouse model solutions for TFAP2B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TFAP2B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFAP2B 
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    (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 TFAP2B About                                                                                                See pathways by source

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

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TFAP2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/17 Interacting proteins for TFAP2B (Q924812, 3 ENSP000003772654) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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): 5/39 biological process terms (GO ID links to tree view) (see all 39):    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-dependent IDA12169688

    TFAP2B 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

    TFAP2B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about TFAP2B / AP2B

    (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 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)

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

    miRNA
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    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
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    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 

    24/55 AceView cDNA sequences (see all 55):

    AW300385 AU077117 AI275084 BC037225 X95694 BM675692 AU108033 NM_003221 
    BM681122 BX112958 AA019703 BM666316 BM687774 AI160950 BM711307 BP380919 
    BF344594 AW772183 AI695268 AA020889 BP380475 BE048362 AU100276 AU141084 

    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

    TFAP2B expression in normal human tissues (normalized intensities)      TFAP2B embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             brain/midbrain/lateral wall   
     
     Eye (Sensory Organs)    fully expand to see all 8 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Human corneal endothelial cells
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Distal Renal Vesicle Cells Renal Vesicle
             Renal Vesicle
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   

    See TFAP2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFAP2B

    SOURCE GeneReport for Unigene cluster: Hs.33102
        SABiosciences Custom PCR Arrays for TFAP2B
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TFAP2B gene from 5/13 species (see all 13)    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_009334.21  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
    Uncharacterized protein
    96(a)
    1 ↔ 1
    1(122232394-122303474)
    zebrafish
    (Danio rerio)
    Actinopterygii tfap2b1 transcription factor AP-2 beta 76.3(n)
    89.74(a)
      550545  NM_001024665.1  NP_001019836.1 
    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)
    About This Section
    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) 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

    10/689 SNPs in TFAP2B are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TFAP2B
    DNA2.0 Custom Variant and Variant Library Synthesis for TFAP2B

    (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: 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

  • 15 diseases for TFAP2B:    About MalaCards
    patent ductus arteriosus    char syndrome    exencephaly    bipolar disorder
    insulin resistance    diabetes mellitus    cervical cancer    renal cell carcinoma
    obesity    alcoholism    schizophrenia    cervicitis
    lung cancer    breast cancer    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)
    About This Section

    PubMed articles for TFAP2B gene, integrated from 9 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. (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. (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. (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. (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. (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. (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. (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....Jonsson E.G. (2003)
    9. No association between a transcription factor Activating Protein 2beta (AP-2beta) gene variant and schizophrenia. (PubMed id 12270648)1, 4, 9 Jonsson E.G....Sedvall G.C. (2002)
    10. Transcription factor AP2 beta involved in severe fema le alcoholism. (PubMed id 19778525)1, 4, 9 Nordquist N....Hallman J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7021 HGNC: 11743 AceView: TFAP2B Ensembl:ENSG00000008196 euGenes: HUgn7021
    ECgene: TFAP2B H-InvDB: TFAP2B

    (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 TFAP2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFAP2B Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TFAP2B
    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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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