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Aliases for TFAP2B Gene

Aliases for TFAP2B Gene

  • Transcription Factor AP-2 Beta 2 3
  • Transcription Factor AP-2 Beta (Activating Enhancer Binding Protein 2 Beta) 2 3 5
  • 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
  • AP-2B 3
  • AP2-B 3

External Ids for TFAP2B Gene

Previous GeneCards Identifiers for TFAP2B Gene

  • GC06P050788
  • GC06P050833
  • GC06P050517

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) is a Protein Coding gene. Diseases associated with TFAP2B include Char Syndrome and Patent Ductus Arteriosus. Among its related pathways are Glucose / Energy Metabolism and Apoptosis and Autophagy. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for TFAP2B Gene

Enhancers for TFAP2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TFAP2B on UCSC Golden Path with GeneCards custom track

Genomic Location for TFAP2B Gene

Chromosome:
6
Start:
50,817,710 bp from pter
End:
50,847,619 bp from pter
Size:
29,910 bases
Orientation:
Plus strand

Genomic View for TFAP2B Gene

Genes around TFAP2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAP2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFAP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for TFAP2B Gene

Suggested Antigen Peptide Sequences for TFAP2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92481

UniProtKB/Swiss-Prot:

AP2B_HUMAN :
  • Belongs to the AP-2 family.
Family:
  • Belongs to the AP-2 family.
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 IEA,IDA 7555706
GO:0001158 enhancer sequence-specific DNA binding IDA 16373396
GO:0003682 chromatin binding IEA --
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IEA,ISS --
genes like me logo Genes that share ontologies with TFAP2B: view
genes like me logo Genes that share phenotypes with TFAP2B: view

Human Phenotype Ontology for TFAP2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFAP2B Gene

MGI Knock Outs for TFAP2B:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for TFAP2B Gene

Pathways & Interactions 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 IEA,ISS --
GO:0003091 renal water homeostasis IEA,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

No data available for SIGNOR curated interactions for TFAP2B Gene

Drugs & Compounds for TFAP2B Gene

(1) Additional Compounds for TFAP2B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x8.7), Breast - Mammary Tissue (x8.6), Esophagus - Mucosa (x6.0), Skin - Not Sun Exposed (Suprapubic) (x6.0), Skin - Sun Exposed (Lower leg) (x5.7), and Brain - Cerebellum (x5.1).

Protein differential expression in normal tissues from HIPED for TFAP2B Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TFAP2B: view

Protein tissue co-expression partners for TFAP2B Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TFAP2B Gene

Orthologs for TFAP2B Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAP2B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TFAP2B 35
  • 95.36 (n)
  • 100 (a)
TFAP2B 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFAP2B 35
  • 96.07 (n)
  • 100 (a)
TFAP2B 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfap2b 35
  • 92.59 (n)
  • 100 (a)
Tfap2b 16
Tfap2b 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TFAP2B 35
  • 99.93 (n)
  • 100 (a)
TFAP2B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfap2b 35
  • 91.7 (n)
  • 99.33 (a)
oppossum
(Monodelphis domestica)
Mammalia TFAP2B 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2B 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFAP2B 35
  • 85.45 (n)
  • 98 (a)
TFAP2B 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAP2B 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2b 35
  • 79.48 (n)
  • 95.83 (a)
zebrafish
(Danio rerio)
Actinopterygii tfap2b 35
  • 76.3 (n)
  • 89.74 (a)
tfap2b 36
  • 90 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta AP-2 37
  • 55 (a)
AP-2 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K06A1.1 37
  • 50 (a)
aptf-1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12118 35
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

(4) 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
VAR_011318 Char syndrome (CHAR)
VAR_011319 Char syndrome (CHAR)
VAR_016977 Char syndrome (CHAR)
VAR_016978 Char syndrome (CHAR)
VAR_016979 Char syndrome (CHAR)

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

Variant ID Type Subtype PubMed ID
nsv830660 CNV Gain 17160897

Variation tolerance for TFAP2B Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFAP2B Gene

Human Gene Mutation Database (HGMD)
TFAP2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFAP2B Gene

Disorders for TFAP2B Gene

MalaCards: The human disease database

(5) MalaCards diseases for TFAP2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
char syndrome
  • char
patent ductus arteriosus
  • ductus arteriosus, patent
exencephaly
skeletal muscle cancer
  • malignant tumor of skeletal muscle
sleep disorder
  • non-organic sleep disorder
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for TFAP2B

Genetic Association Database (GAD)
TFAP2B
Human Genome Epidemiology (HuGE) Navigator
TFAP2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFAP2B
genes like me logo Genes that share disorders with TFAP2B: view

No data available for Genatlas for TFAP2B Gene

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 67
  2. Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology. (PMID: 19184334) Nilsson K.W. … Damberg M. (J Neural Transm 2009) 3 23
  3. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PMID: 19336370) Dagle J.M. … Murray J.C. (Pediatrics 2009) 3 23
  4. Transcription factor AP2 beta involved in severe female alcoholism. (PMID: 19778525) Nordquist N. … Hallman J. (Brain Res. 2009) 3 23
  5. Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene. (PMID: 18358611) Hensch T. … Brocke B. (Neurosci. Lett. 2008) 3 23

Products for TFAP2B Gene

Sources for TFAP2B Gene

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