TFAP2B Chromosome 6
Transcription factor AP-2 beta
Upload your DNA to see your personal genotypes for variants in TFAP2B.
What This Gene Does
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]
Gene Info
Gene Group
Transcription factor AP-2 family
Locus Type
gene with protein product
Location
6p12.3
Ensembl
ENSG00000008196
Associated Conditions (6)
Inborn genetic diseases
TFAP2B-related disorder
Char syndrome
Patent ductus arteriosus 2
Craniosynostosis syndrome
Chronic intestinal pseudoobstruction
Key Variants
RS115226995
Conflicting classifications of pathogenicity
Inborn genetic diseases, TFAP2B-related disorder, Inborn genetic diseases
Health Risk
RS141129222
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373897654
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1325125531
Likely pathogenic
Char syndrome, Char syndrome
Health Risk
RS1377078499
Likely pathogenic
Patent ductus arteriosus 2, Patent ductus arteriosus 2
Health Risk
RS2113920409
Likely pathogenic
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS2113937986
Likely pathogenic
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS2113952620
Likely pathogenic
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS2113960501
Likely pathogenic
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS2533123850
Likely pathogenic
Health Risk
RS2533148487
Likely pathogenic
Health Risk
RS759239606
Likely pathogenic
Char syndrome, Char syndrome
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115226995 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TFAP2B-related disorder, Inborn genetic diseases |
| RS141129222 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373897654 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1325125531 | Health Risk | Likely pathogenic | Char syndrome, Char syndrome |
| RS1377078499 | Health Risk | Likely pathogenic | Patent ductus arteriosus 2, Patent ductus arteriosus 2 |
| RS2113920409 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS2113937986 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS2113952620 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS2113960501 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS2533123850 | Health Risk | Likely pathogenic | — |
| RS2533148487 | Health Risk | Likely pathogenic | — |
| RS759239606 | Health Risk | Likely pathogenic | Char syndrome, Char syndrome |
| RS80338917 | Health Risk | Likely pathogenic | Char syndrome, Char syndrome |
| RS1474152110 | Health Risk | Pathogenic | — |
| RS1561964103 | Health Risk | Pathogenic | Char syndrome, Char syndrome |
| RS2113929578 | Health Risk | Pathogenic | — |
| RS2113949539 | Health Risk | Pathogenic | Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction |
| RS2533123879 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS80338910 | Health Risk | Pathogenic | Char syndrome, Char syndrome |
| RS80338911 | Health Risk | Pathogenic | Char syndrome, Patent ductus arteriosus 2, Char syndrome |
| RS80338912 | Health Risk | Pathogenic | Char syndrome, Char syndrome, Char syndrome |
| RS80338914 | Health Risk | Pathogenic | Char syndrome, Char syndrome |
| RS879253870 | Health Risk | Pathogenic | Patent ductus arteriosus 2, Patent ductus arteriosus 2 |
| RS879253871 | Health Risk | Pathogenic | Patent ductus arteriosus 2, Patent ductus arteriosus 2 |
| RS80338915 | Health Risk | Pathogenic/Likely pathogenic | Char syndrome, Char syndrome |