Human Gene TFAP2B (ENST00000393655.4) from GENCODE V44
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
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";
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.
ModBase Predicted Comparative 3D Structure on Q92481
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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.
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
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)
US Server
