TFAP2B Gene
protein-coding GIFtS: 66
GC06P050894
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transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (Previous name: transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for TFAP2B
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
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| AP-2B 2 | | AP2-B 1, 2 | | AP2-beta 3 | | CHAR 5 | | MGC21381 2 | | OTTHUMP00000039925 2 |
| | | Descriptions |
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| Activating enhancer-binding protein 2 beta 3 | | activating enhancer binding protein 2 beta 2 | | transcription factor AP-2 beta 2 | transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 2 | transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) 1 |
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| | Search outside databases for aliases for TFAP2B genePrevious GC identifers: GC06P050788 GC06P050833 |
Summaries for TFAP2B(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for TFAP2B: 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] UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481Function: 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 |
Genomic Location for TFAP2B
(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 TFAP2B gene 
Entrez Gene cytogenetic band: 6p12 Ensembl cytogenetic band: 6p12.3 HGNC cytogenetic band: 6p12TFAP2B 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 GC06P050894:
(about GC identifiers)
Start:
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50,894,398 bp from pter |
End:
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50,923,285 bp from pter |
Size:
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28,888 bases |
Orientation:
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plus strand |
RefSeq DNA sequence:- NC_000006.10 NT_007592.14
| Proteins for TFAP2B
(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: 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
Subcellular location: Nucleus (Probable)
Secondary accessions: Q5JYX6 Q9NQ63 Q9NU99 Q9UJI7 Q9Y214 Q9Y3K3Alternative splicing: 2 isoforms: Q92481-1 Q92481-2 Post-translational modifications:
Sumoylated on Lys-21; which inhibits transcriptional activity (Probable)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_003212.2
ENSEMBL proteins: ENSP00000377265 ENSP00000342252 ENSP00000263046
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for TFAP2B: Assays for TFAP2B: | Protein
Domains/ Families for TFAP2B(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q92481
ProtoNet protein and cluster: Q92481 2 Blocks protein families: IPB004979 Transcription factor AP-2 signature IPB008122 Transcription factor AP-2 beta signature
UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481Similarity: Belongs to the AP-2 family | Gene Function for TFAP2B
(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003221
Applied Biosystems Silencer® siRNAs for TFAP2B
Sigma-Aldrich siRNA for TFAP2B  Sigma-Aldrich shRNA for TFAP2B  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003221                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003221                                  untagged cDNA clones in CMV expression vector (see all 4): NM_003221 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003221
UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481Function: 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 epitheliaGenatlas biochemistry entry for TFAP2B:transcription factor 2,AP-2,beta regulating the expression of genes required for development of ectodermal tissues9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tcfap2b):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for TFAP2B
(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
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Gene Network CentralTM Interacting Genes and Proteins Network for TFAP2B 
5/9 Interacting proteins for TFAP2B (Q924811, 2 ENSP000002630463) via UniProtKB, MINT, and/or STRING (see all 9
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
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Drugs & Compounds for TFAP2B(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
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Browse Tocris compounds for TFAP2B 1 Novoseek chemical compound relationship for TFAP2B gene
About this table
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Transcripts for TFAP2B(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003221
Sigma-Aldrich siRNA for TFAP2B  Sigma-Aldrich shRNA for TFAP2B  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_003221 REFSEQ mRNAs for TFAP2B gene: NM_003221.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003221               OriGene GFP tagged cDNA clone in CMV expression vector: NM_003221                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003221                                  untagged cDNA clones in CMV expression vector (see all 4): NM_003221  Additional cDNA sequence: 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
):NM_003221 BX112958 BM681122 AI275084 BM675692 AA019703 BC037225 X95694 AU108033 AU077117 AW300385 AU100276 BM687774 AI695268 AU116928 BP380475 BP380919 BE048362 BE075773 AA330860 BM699043 AI160950 AU141084 BM666316
highest scoring ESTs for TFAP2B:X95694 AA018906 AI160950 AI275084 AI909045 AI951174 AU144832 AW772183 BC037225 BE048362 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
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000393655
ENST00000344788
ENST00000263046
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Expression for TFAP2B
(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
| TFAP2B expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for TFAP2B
1 / 2 / 3 6 probe-sets matching TFAP2B gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTAAGTTTGT
SOURCE GeneReport for Unigene cluster: Hs.33102
Expression variation in blood from EXPOLDB for TFAP2B |
Orthologs for TFAP2B
(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
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Orthologs for TFAP2B gene from 5/10 species (see all 10
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About this table Species with no ortholog for TFAP2B
ENSEMBL Gene Tree for TFAP2B | Paralogs for TFAP2B(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for TFAP2B gene
- TFAP2C2 TFAP2A2
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SNPs/Variants for TFAP2B(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for TFAP2B (up to first 250kb)
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Disorders & Mutations for TFAP2B
(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
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OMIM: 601601 disorders: 169100 UniProtKB/Swiss-Prot: AP2B_HUMAN, Q92481
Defects in TFAP2B are the cause of Char syndrome (CHAR) [MIM:169100]. CHAR is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies5 Novoseek disease relationships for TFAP2B gene
About this table
GeneTests: TFAP2B Char Syndrome Human Gene Mutation Database: TFAP2B Genetic Association Database: TFAP2B Human Genome Epidemiology Navigator: TFAP2B (11 documents)
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Medical News for TFAP2B(Possibly Related Articles in
Doctor's Guide)
About This Section
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Publications for TFAP2B (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
| 10/67 PubMed articles for TFAP2B gene (see all 67
):- 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, 4 Williamson J.A....Hurst H.C. (1996)
- Investigation of transcription factor AP-2 beta genotype in women with premenstrual dysphoric disorder. (PubMed id 15722186)1, 3, 6 Damberg M....Eriksson E. (2005)
- Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. (PubMed id 15940393)1, 3, 6 Maeda S....Nakamura Y. (2005)
- Novel TFAP2B mutations that cause Char syndrome provide a genotype- phenotype correlation. (PubMed id 11505339)1, 3, 4 Zhao F.... Gelb B.D. (2001)
- Transcription factor AP-2beta genotype associated with anxiety-related personality traits in women. A replication study. (PubMed id 14673213)1, 3, 6 Damberg M....Jonsson E.G. (2003)
- Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta. (PubMed id 9271117)1, 3, 4 Moser M. and Buettner R. (1997)
- Transcription factor AP-2beta genotype, striatal dopamine D2 receptor density and cerebrospinal fluid monoamine metabolite concentrations in humans. (PubMed id 15057523)3, 6 Damberg M....Jonsson E.G. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)3, 4 Mungall A.J.... Beck S. (2003)
- Transcription factor AP-2 interacts with the SUMO-conjugating enzyme UBC9 and is sumolated in vivo. (PubMed id 12072434)3, 4 Eloranta J.J. and Hurst H.C. (2002)
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Search for TFAP2B
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing TFAP2B
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing TFAP2B
(According to HUGE)
About This Section
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Specialized Databases showing TFAP2B(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
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| Services for TFAP2B(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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 Products for TFAP2B:

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| Antibodies & Assays for TFAP2B  (AP-2-beta) |
| | | | Search Tocris compounds for TFAP2B |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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