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 patter... See more...

Aliases for TFAP2B Gene

Aliases for TFAP2B Gene

  • Transcription Factor AP-2 Beta 2 3 5
  • Transcription Factor AP-2-Beta 3 4
  • AP2-Beta 3 4
  • AP2-B 2 3
  • Transcription Factor AP-2 Beta (Activating Enhancer-Binding Protein 2 Beta) 2
  • Transcription Factor AP-2 Beta (Activating Enhancer Binding Protein 2 Beta) 2
  • Activating Enhancer Binding Protein 2 Beta 3
  • Activating Enhancer-Binding Protein 2-Beta 4
  • TFAP2B 5
  • AP-2B 3
  • PDA2 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 2. Among its related pathways are Neuroscience and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TFAP2A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFAP2B Gene

Genomics for TFAP2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TFAP2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J050815 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 608.8 +2.6 2552 9.5 CREB1 CTCF TEAD4 PRDM10 PRDM1 REST RAD21 BRD9 TRIM22 EZH2 TFAP2B HSALNG0050557
GH06J050850 Enhancer 0.6 FANTOM5 11.8 +32.9 32852 0.5 EZH2 RFX1 USF1 EGR1 MTA1 NRF1 MNT ZNF579 TFAP2B RPS17P5 HSALNG0050557
GH06J050961 Enhancer 1 Ensembl ENCODE 6.5 +145.0 145008 3.4 ARHGAP35 LEF1 IKZF1 JUND MTA2 PKNOX1 ZNF24 MTA1 DPF2 HDAC1 TFAP2B piR-59297-577 piR-59297-578
GH06J050925 Enhancer 0.7 Ensembl 6.1 +108.1 108109 0.4 ATF7 JUND PKNOX1 DPF2 SOX6 FOXJ2 FOXK2 USF1 ZKSCAN1 EHMT2 TFAP2B piR-59297-577 piR-59297-578
GH06J050912 Promoter 0.6 Ensembl 6.1 +95.3 95309 0.8 CBX3 ZNF507 ZBTB33 CHAMP1 TRIM24 FTH1P5 lnc-PKHD1-6 TFAP2B LOC100418898
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFAP2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFAP2B

Top Transcription factor binding sites by QIAGEN in the TFAP2B gene promoter:
  • AP-4
  • c-Ets-1
  • CREB
  • deltaCREB
  • Elk-1
  • ER-alpha
  • HNF-1
  • HNF-1A
  • S8

Genomic Locations for TFAP2B Gene

Genomic Locations for TFAP2B Gene
chr6:50,817,692-50,847,619
(GRCh38/hg38)
Size:
29,928 bases
Orientation:
Plus strand
chr6:50,786,436-50,815,326
(GRCh37/hg19)
Size:
28,891 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA71047.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAC01130.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TFAP2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFAP2B Gene

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

No data available for DME Specific Peptides for TFAP2B Gene

Domains & Families for TFAP2B Gene

Gene Families for TFAP2B Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TFAP2B Gene

InterPro:
Blocks:
  • Transcription factor AP-2 signature
  • Transcription factor AP-2 beta signature
ProtoNet:

Suggested Antigen Peptide Sequences for TFAP2B Gene

GenScript: Design optimal peptide antigens:
  • Activating enhancer-binding protein 2-beta (AP2B_HUMAN)

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

Function for TFAP2B Gene

Molecular function for TFAP2B Gene

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.
GENATLAS Biochemistry:
transcription factor 2,AP-2,beta regulating the expression of genes required for development of ectodermal tissues

Phenotypes From GWAS Catalog for TFAP2B Gene

Gene Ontology (GO) - Molecular Function for TFAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IDA 7555706
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IDA 16373396
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
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

CRISPR Products

miRNA for TFAP2B Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAP2B

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFAP2B gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TFAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus IC,IDA 20607706
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with TFAP2B: view

Pathways & Interactions for TFAP2B Gene

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

SIGNOR curated interactions for TFAP2B Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for TFAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
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

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

mRNA/cDNA for TFAP2B Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAP2B

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

No ASD Table

Relevant External Links for TFAP2B Gene

GeneLoc Exon Structure for
TFAP2B

Expression for TFAP2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for TFAP2B Gene



Protein tissue co-expression partners for TFAP2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFAP2B

SOURCE GeneReport for Unigene cluster for TFAP2B Gene:

Hs.33102

Evidence on tissue expression from TISSUES for TFAP2B Gene

  • Skin(4.4)
  • Eye(2.9)
  • Nervous system(2.4)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TFAP2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • heart
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TFAP2B: view

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
Chimpanzee
(Pan troglodytes)
Mammalia TFAP2B 30 31
  • 99.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TFAP2B 30 31
  • 96.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TFAP2B 30 31
  • 95.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TFAP2B 31
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tfap2b 30 17 31
  • 92.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2B 31
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tfap2b 30
  • 91.7 (n)
Chicken
(Gallus gallus)
Aves TFAP2B 30 31
  • 85.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TFAP2B 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tfap2b 30
  • 79.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii tfap2b 30 31
  • 76.3 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta AP-2 31 32
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K06A1.1 32
  • 50 (a)
aptf-1 31
  • 38 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12118 30
Species where no ortholog for TFAP2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TFAP2B: view image

Paralogs for TFAP2B Gene

Paralogs for TFAP2B Gene

(4) SIMAP similar genes for TFAP2B Gene using alignment to 1 proteins:

  • AP2B_HUMAN
genes like me logo Genes that share paralogs with TFAP2B: view

Variants for TFAP2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFAP2B Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
724425 Likely Benign: not provided 50,840,220(+) C/T SYNONYMOUS_VARIANT
725464 Likely Benign: not provided 50,843,125(+) G/T SYNONYMOUS_VARIANT
746541 Likely Benign: not provided 50,823,403(+) C/A INTRON_VARIANT
748066 Likely Benign: not provided 50,823,397(+) C/G INTRON_VARIANT
755778 Benign: not provided 50,843,113(+) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TFAP2B Gene

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

Variant ID Type Subtype PubMed ID
nsv1030072 CNV loss 25217958
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)

Additional Variant Information for TFAP2B Gene

Human Gene Mutation Database (HGMD)
TFAP2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFAP2B

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

Disorders for TFAP2B Gene

MalaCards: The human disease database

(20) MalaCards diseases for TFAP2B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
char syndrome
  • char
patent ductus arteriosus 2
  • pda2
familial patent arterial duct
orbit embryonal rhabdomyosarcoma
  • embryonal rhabdomyosarcoma of the orbit
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, ECO:0000269 PubMed:15684060}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Patent ductus arteriosus 2 (PDA2) [MIM:617035]: A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth. {ECO:0000269 PubMed:18752453, ECO:0000269 PubMed:21643846}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TFAP2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JA … Hurst HC (Genomics 1996) 2 3 4 23
  2. Transcription factor AP2 beta involved in severe female alcoholism. (PMID: 19778525) Nordquist N … Hallman J (Brain research 2009) 3 23 41
  3. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PMID: 19336370) Dagle JM … Murray JC (Pediatrics 2009) 3 23 41
  4. Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology. (PMID: 19184334) Nilsson KW … Damberg M (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 23 41
  5. Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene. (PMID: 18358611) Hensch T … Brocke B (Neuroscience letters 2008) 3 23 41

Products for TFAP2B Gene

  • Signalway Proteins for TFAP2B

Sources for TFAP2B Gene