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.