Human Gene TFAP2B (ENST00000393655.4) from GENCODE V41
  Description: Homo sapiens transcription factor AP-2 beta (TFAP2B), mRNA. (from RefSeq NM_003221)
RefSeq Summary (NM_003221): 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].
Gencode Transcript: ENST00000393655.4
Gencode Gene: ENSG00000008196.13
Transcript (Including UTRs)
   Position: hg38 chr6:50,818,871-50,847,619 Size: 28,749 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr6:50,818,892-50,843,392 Size: 24,501 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:50,818,871-50,847,619)mRNA (may differ from genome)Protein (460 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AP2B_HUMAN
DESCRIPTION: RecName: Full=Transcription factor AP-2-beta; Short=AP2-beta; AltName: Full=Activating enhancer-binding protein 2-beta;
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.
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).
PTM: Sumoylated on Lys-21; which inhibits transcriptional activity (Probable).
DISEASE: 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 anomalies.
SIMILARITY: Belongs to the AP-2 family.
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;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TFAP2B";
WEB RESOURCE: Name=Wikipedia; Note=Activatin protein 2 entry; URL="http://en.wikipedia.org/wiki/Activating_protein_2";

-  MalaCards Disease Associations
  MalaCards Gene Search: TFAP2B
Diseases sorted by gene-association score: char syndrome* (1720), patent ductus arteriosus 2* (919), familial patent arterial duct* (350), patent ductus arteriosus (27), exencephaly (10), skeletal muscle cancer (6), sleep disorder (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.47 RPKM in Breast - Mammary Tissue
Total median expression: 22.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00210.000 Picture PostScript Text
3' UTR -1264.404227-0.299 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004979 - TF_AP2
IPR008122 - TF_AP2_beta
IPR013854 - TF_AP2_C

Pfam Domains:
PF03299 - Transcription factor AP-2

ModBase Predicted Comparative 3D Structure on Q92481
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0001106 RNA polymerase II transcription corepressor activity
GO:0001158 enhancer sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001822 kidney development
GO:0003091 renal water homeostasis
GO:0006006 glucose metabolic process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0007423 sensory organ development
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0010226 response to lithium ion
GO:0010842 retina layer formation
GO:0010960 magnesium ion homeostasis
GO:0030510 regulation of BMP signaling pathway
GO:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0035810 positive regulation of urine volume
GO:0035909 aorta morphogenesis
GO:0042493 response to drug
GO:0042593 glucose homeostasis
GO:0043066 negative regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0043588 skin development
GO:0045444 fat cell differentiation
GO:0045595 regulation of cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048485 sympathetic nervous system development
GO:0050796 regulation of insulin secretion
GO:0055062 phosphate ion homeostasis
GO:0055074 calcium ion homeostasis
GO:0055075 potassium ion homeostasis
GO:0055078 sodium ion homeostasis
GO:0072017 distal tubule development
GO:0072044 collecting duct development
GO:0072210 metanephric nephron development
GO:0097070 ductus arteriosus closure
GO:0097275 cellular ammonia homeostasis
GO:0097276 cellular creatinine homeostasis
GO:0097277 cellular urea homeostasis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC037225 - Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta), mRNA (cDNA clone MGC:21381 IMAGE:4745989), complete cds.
JD052494 - Sequence 33518 from Patent EP1572962.
AK291172 - Homo sapiens cDNA FLJ78195 complete cds, highly similar to Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta), mRNA.
AK313749 - Homo sapiens cDNA, FLJ94350, highly similar to Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.
AB528472 - Synthetic construct DNA, clone: pF1KB7793, Homo sapiens TFAP2B gene for transcription factor AP-2 beta, without stop codon, in Flexi system.
X95694 - H.sapiens mRNA for AP-2 beta transcription factor.
JD398361 - Sequence 379385 from Patent EP1572962.
DQ891443 - Synthetic construct clone IMAGE:100004073; FLH176997.01X; RZPDo839B11124D transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B) gene, encodes complete protein.
DQ894621 - Synthetic construct Homo sapiens clone IMAGE:100009081; FLH176994.01L; RZPDo839B11123D transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B) gene, encodes complete protein.
JD302283 - Sequence 283307 from Patent EP1572962.
JD349981 - Sequence 331005 from Patent EP1572962.
JD126965 - Sequence 107989 from Patent EP1572962.
JD297513 - Sequence 278537 from Patent EP1572962.
JD119855 - Sequence 100879 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92481 (Reactome details) participates in the following event(s):

R-HSA-3234084 SUMOylation of TFAP2B with SUMO1
R-HSA-8864595 TFAP2B homodimer binds YEATS4
R-HSA-8864278 AP-2 (TFAP2) transcription factors form homo- and heterodimers
R-HSA-8864690 TFAP2A,(TFAP2B) homodimers bind the KIT gene promoter
R-HSA-8864307 TFAP2 homo- and heterodimers bind CITED and EP300/CREBBP
R-HSA-8864343 KCTD1 binds TFAP2 homo- and heterodimers
R-HSA-8864361 KCTD15 binds TFAP2 homo- and heterodimers
R-HSA-8864453 TFAP2A,(TFAP2B,TFAP2C) homo- and heterodimers bind the ERBB2 gene promoter and recruit YY1
R-HSA-3232118 SUMOylation of transcription factors
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-2990846 SUMOylation
R-HSA-212436 Generic Transcription Pathway
R-HSA-597592 Post-translational protein modification
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-392499 Metabolism of proteins
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AP2B_HUMAN, ENST00000393655.1, ENST00000393655.2, ENST00000393655.3, NM_003221, Q5JYX6, Q92481, Q9NQ63, Q9NU99, Q9UJI7, Q9Y214, Q9Y3K3, uc003pag.1, uc003pag.2, uc003pag.3, uc003pag.4, uc003pag.5
UCSC ID: ENST00000393655.4
RefSeq Accession: NM_003221
Protein: Q92481 (aka AP2B_HUMAN)
CCDS: CCDS4934.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TFAP2B:
char (Char Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.