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Aliases for TFAP2B Gene

Aliases for TFAP2B Gene

  • Transcription Factor AP-2 Beta (Activating Enhancer Binding Protein 2 Beta) 2 3
  • Activating Enhancer-Binding Protein 2-Beta 3 4
  • AP2-BETA 3 4
  • Transcription Factor AP-2 Beta (Activating Enhancer-Binding Protein 2 Beta) 2
  • Activating Enhancer Binding Protein 2 Beta 3
  • Transcription Factor AP-2-Beta 3
  • AP-2B 3
  • AP2-B 3
  • CHAR 6

External Ids for TFAP2B Gene

Summaries for TFAP2B Gene

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. Among its related pathways are Neural Crest Differentiation and Glucose / Energy Metabolism. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TFAP2E.

UniProtKB/Swiss-Prot for TFAP2B Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFAP2B Gene

Genomics for TFAP2B Gene

Genomic Location for TFAP2B Gene

Start:
50,818,723 bp from pter
End:
50,847,613 bp from pter
Size:
28,891 bases
Orientation:
Plus strand

Genomic View for TFAP2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TFAP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAP2B Gene

Regulatory Elements for TFAP2B Gene

Proteins for TFAP2B Gene

  • Protein details for TFAP2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92481-AP2B_HUMAN
    Recommended name:
    Transcription factor AP-2-beta
    Protein Accession:
    Q92481
    Secondary Accessions:
    • Q5JYX6
    • Q9NQ63
    • Q9NU99
    • Q9UJI7
    • Q9Y214
    • Q9Y3K3

    Protein attributes for TFAP2B Gene

    Size:
    460 amino acids
    Molecular mass:
    50474 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA64990.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA71047.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB41305.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC01130.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TFAP2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFAP2B Gene

Proteomics data for TFAP2B Gene at MOPED

Post-translational modifications for TFAP2B Gene

  • Sumoylated on Lys-21; which inhibits transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TFAP2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TFAP2B Gene

Domains for TFAP2B Gene

UniProtKB/Swiss-Prot:

AP2B_HUMAN
Family:
  • Belongs to the AP-2 family.:
    • Q92481
genes like me logo Genes that share domains with TFAP2B: view

No data available for Gene Families for TFAP2B Gene

Function for TFAP2B Gene

Molecular function for TFAP2B Gene

GENATLAS Biochemistry: transcription factor 2,AP-2,beta regulating the expression of genes required for development of ectodermal tissues
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for TFAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 7555706
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IDA 7555706
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001105 RNA polymerase II transcription coactivator activity ISS --
genes like me logo Genes that share ontologies with TFAP2B: view
genes like me logo Genes that share phenotypes with TFAP2B: view

Animal Models for TFAP2B Gene

MGI Knock Outs for TFAP2B:

miRNA for TFAP2B Gene

miRTarBase miRNAs that target TFAP2B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TFAP2B Gene

Localization for TFAP2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAP2B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFAP2B Gene COMPARTMENTS Subcellular localization image for TFAP2B gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for TFAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20607706
genes like me logo Genes that share ontologies with TFAP2B: view

Pathways for TFAP2B Gene

genes like me logo Genes that share pathways with TFAP2B: view

Pathways by source for TFAP2B Gene

3 Cell Signaling Technology pathways for TFAP2B Gene
1 BioSystems pathway for TFAP2B Gene

Gene Ontology (GO) - Biological Process for TFAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 7559606
GO:0001822 kidney development ISS --
GO:0003091 renal water homeostasis ISS --
GO:0006006 glucose metabolic process IMP 15940393
GO:0006355 regulation of transcription, DNA-templated IDA 12169688
genes like me logo Genes that share ontologies with TFAP2B: view

Compounds for TFAP2B Gene

(1) Novoseek inferred chemical compound relationships for TFAP2B Gene

Compound -log(P) Hits PubMed IDs
glucose 0 5
genes like me logo Genes that share compounds with TFAP2B: view

Transcripts for TFAP2B Gene

Unigene Clusters for TFAP2B Gene

Transcription factor AP-2 beta (activating enhancer binding protein 2 beta):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TFAP2B Gene

No ASD Table

Relevant External Links for TFAP2B Gene

GeneLoc Exon Structure for
TFAP2B
ECgene alternative splicing isoforms for
TFAP2B

Expression for TFAP2B Gene

mRNA expression in normal human tissues for TFAP2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFAP2B Gene

This gene is overexpressed in Kidney - Cortex (8.7), Breast - Mammary Tissue (8.6), Esophagus - Mucosa (6.0), Skin - Not Sun Exposed (Suprapubic) (6.0), Skin - Sun Exposed (Lower leg) (5.7), and Brain - Cerebellum (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TFAP2B Gene

SOURCE GeneReport for Unigene cluster for TFAP2B Gene Hs.33102

genes like me logo Genes that share expressions with TFAP2B: view

Orthologs for TFAP2B Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAP2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFAP2B 36
  • 99.93 (n)
  • 100 (a)
TFAP2B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFAP2B 36
  • 95.36 (n)
  • 100 (a)
TFAP2B 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFAP2B 36
  • 96.07 (n)
  • 100 (a)
TFAP2B 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfap2b 36
  • 92.59 (n)
  • 100 (a)
Tfap2b 16
Tfap2b 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TFAP2B 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2B 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfap2b 36
  • 91.7 (n)
  • 99.33 (a)
chicken
(Gallus gallus)
Aves TFAP2B 36
  • 85.45 (n)
  • 98 (a)
TFAP2B 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAP2B 37
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2b 36
  • 79.48 (n)
  • 95.83 (a)
zebrafish
(Danio rerio)
Actinopterygii tfap2b 36
  • 76.3 (n)
  • 89.74 (a)
tfap2b 37
  • 90 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta AP-2 37
  • 43 (a)
OneToMany
AP-2 38
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea aptf-1 37
  • 38 (a)
OneToMany
K06A1.1 38
  • 50 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12118 36
Species with no ortholog for TFAP2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFAP2B Gene

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

Paralogs for TFAP2B Gene

Paralogs for TFAP2B Gene

Selected SIMAP similar genes for TFAP2B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TFAP2B: view

Variants for TFAP2B Gene

Sequence variations from dbSNP and Humsavar for TFAP2B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs760900 -- 50,828,921(-) TGCCA(C/T)GAGAA intron-variant
rs875712 -- 50,841,374(-) AAATA(C/T)CTATT intron-variant
rs916150 -- 50,828,736(+) TCTTT(A/T)TGATG intron-variant
rs987237 -- 50,835,337(+) AATTC(A/G)TGTCA intron-variant
rs987238 -- 50,834,998(+) GAGAT(G/T)GACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TFAP2B Gene

Variant ID Type Subtype PubMed ID
nsv830660 CNV Gain 17160897

Relevant External Links for TFAP2B Gene

HapMap Linkage Disequilibrium report
TFAP2B
Human Gene Mutation Database (HGMD)
TFAP2B

Disorders for TFAP2B Gene

(1) OMIM Diseases for TFAP2B Gene (601601)

UniProtKB/Swiss-Prot

AP2B_HUMAN
  • Char syndrome (CHAR) [MIM:169100]: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. {ECO:0000269 PubMed:10802654, ECO:0000269 PubMed:11505339}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TFAP2B Gene

(5) Novoseek inferred disease relationships for TFAP2B Gene

Disease -log(P) Hits PubMed IDs
char syndrome 89.3 4
insulin resistance 29.2 3
bipolar disorder 16.5 1
tumors 0 4
cancer 0 1

Relevant External Links for TFAP2B

GeneTests
TFAP2B
GeneReviews
TFAP2B
Genetic Association Database (GAD)
TFAP2B
Human Genome Epidemiology (HuGE) Navigator
TFAP2B
genes like me logo Genes that share disorders with TFAP2B: view

Publications for TFAP2B Gene

  1. Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors. (PMID: 8661133) Williamson J.A. … Hurst H.C. (Genomics 1996) 2 3 4 23
  2. Transcription factor AP-2beta genotype associated with anxiety-related personality traits in women. A replication study. (PMID: 14673213) Damberg M. … JAPnsson E.G. (Neuropsychobiology 2003) 3 23 49
  3. Investigation of transcription factor AP-2 beta genotype in women with premenstrual dysphoric disorder. (PMID: 15722186) Damberg M. … Eriksson E. (Neurosci. Lett. 2005) 3 23 49
  4. Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. (PMID: 15940393) Maeda S. … Nakamura Y. (J. Hum. Genet. 2005) 3 23 49
  5. Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder. (PMID: 16787706) Michelon L. … Vallada H. (Neurosci. Lett. 2006) 3 23 49

Products for TFAP2B Gene

Sources for TFAP2B Gene

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