Entrez Gene ID | 7021 |
---|---|
Official Gene Symbol | TFAP2B (GeneCards) |
Full name | transcription factor AP-2 beta |
Location | 6p12.3 |
Other ids | Vega : OTTHUMG00000014836 MIM : 601601 HGNC : HGNC:11743 Ensembl : ENSG00000008196 |
Other names | PDA2, AP-2B, AP2-B |
Summary | 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] |
Found 10 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
8936 | 7021 | TFAP2B | 6 | 51292293 | 51292293 | Asymptomatic | HiSeq X Ten |
9114 | 7021 | TFAP2B | 6 | 51086145 | 51086145 | Asymptomatic | HiSeq X Ten |
9210 | 7021 | TFAP2B | 6 | 51460811 | 51460811 | Asymptomatic | HiSeq X Ten |
9549 | 7021 | TFAP2B | 6 | 51113893 | 51113893 | Asymptomatic | HiSeq X Ten |
9565 | 7021 | TFAP2B | 6 | 51276970 | 51276970 | Asymptomatic | HiSeq X Ten |
9994 | 7021 | TFAP2B | 6 | 50819761 | 50819761 | Asymptomatic | HiSeq X Ten |
10112 | 7021 | TFAP2B | 6 | 50883897 | 50883897 | Cockayne syndrome | HiSeq X Ten |
10141 | 7021 | TFAP2B | 6 | 50794237 | 50794237 | Cockayne syndrome | HiSeq X Ten |
10289 | 7021 | TFAP2B | 6 | 51229814 | 51229814 | Xeroderma Pigmentosum | HiSeq X Ten |
10300 | 7021 | TFAP2B | 6 | 51125058 | 51125058 | Xeroderma Pigmentosum | HiSeq X Ten |