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InnateDB Protein
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IDBP-90397.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TFAP2B
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Protein Name
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transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
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Synonyms
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AP-2B; AP2-B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000342252
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InnateDB Gene
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IDBG-90393 (TFAP2B)
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Protein Structure
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| 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. {ECO:0000269PubMed:11694877}.
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| Subcellular Localization |
Nucleus {ECO:0000305}.
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| Disease Associations |
Char syndrome (CHAR) [MIM:169100]: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. {ECO:0000269PubMed:10802654, ECO:0000269PubMed:11505339}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
12
[view]
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| Protein-Protein |
12
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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Molecular Function |
| Accession |
GO Term |
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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| Biological Process |
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GO:0006355
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regulation of transcription, DNA-templated
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR008122
Transcription factor AP-2 beta
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| PFAM |
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| PRINTS |
PR01750
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
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| PhosphoSite |
PhosphoSite-Q92481
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| TrEMBL |
X6R4Y8
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| UniProt Splice Variant |
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| Entrez Gene |
7021
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| UniGene |
Hs.33102
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| RefSeq |
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| HUGO |
HGNC:11743
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| OMIM |
601601
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| CCDS |
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| HPRD |
03360
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| IMGT |
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| EMBL |
AL031224
AL049693
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| GenPept |
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Version 5.4