TFAP2A Chromosome 6
Transcription factor AP-2 alpha
Upload your DNA to see your personal genotypes for variants in TFAP2A.
What This Gene Does
The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Transcription factor AP-2 family
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000137203
Associated Conditions (6)
Branchiooculofacial syndrome
Inborn genetic diseases
TFAP2A-related disorder
Melnick-Fraser syndrome
Chromatinopathy
13 conditions
Key Variants
RS140905560
Conflicting classifications of pathogenicity
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS1420479673
Conflicting classifications of pathogenicity
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS1554111768
Conflicting classifications of pathogenicity
Inborn genetic diseases, TFAP2A-related disorder, Inborn genetic diseases
Health Risk
RS1761890567
Conflicting classifications of pathogenicity
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS559183946
Conflicting classifications of pathogenicity
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS757530487
Conflicting classifications of pathogenicity
Health Risk
RS912110615
Conflicting classifications of pathogenicity
Health Risk
RS9368354
Conflicting classifications of pathogenicity
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS111460784
Likely pathogenic
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS151344526
Likely pathogenic
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS151344527
Likely pathogenic
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
RS1554110673
Likely pathogenic
Branchiooculofacial syndrome, Branchiooculofacial syndrome
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140905560 | Health Risk | Conflicting classifications of pathogenicity | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1420479673 | Health Risk | Conflicting classifications of pathogenicity | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554111768 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TFAP2A-related disorder, Inborn genetic diseases |
| RS1761890567 | Health Risk | Conflicting classifications of pathogenicity | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS559183946 | Health Risk | Conflicting classifications of pathogenicity | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS757530487 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS912110615 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9368354 | Health Risk | Conflicting classifications of pathogenicity | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS111460784 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS151344526 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS151344527 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554110673 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554110994 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554111717 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554111734 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554111749 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554111751 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1554112492 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1561709465 | Health Risk | Likely pathogenic | — |
| RS1581257777 | Health Risk | Likely pathogenic | — |
| RS1757903817 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1762047599 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS2113228864 | Health Risk | Likely pathogenic | Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2114014223 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS2114014460 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, TFAP2A-related disorder, Branchiooculofacial syndrome |
| RS2532348599 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2532358360 | Health Risk | Likely pathogenic | — |
| RS2532358471 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2532363566 | Health Risk | Likely pathogenic | — |
| RS2532363988 | Health Risk | Likely pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS121909574 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Inborn genetic diseases, Chromatinopathy |
| RS121909575 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS151344525 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Inborn genetic diseases, Branchiooculofacial syndrome |
| RS151344528 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Inborn genetic diseases, Branchiooculofacial syndrome |
| RS1554110735 | Health Risk | Pathogenic | 13 conditions, Branchiooculofacial syndrome, 13 conditions |
| RS1581262652 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS1761968190 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS2114014389 | Health Risk | Pathogenic | — |
| RS2532358223 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS2532363719 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS2532363869 | Health Risk | Pathogenic | — |
| RS2532363915 | Health Risk | Pathogenic | — |
| RS2532377146 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS267607108 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS793888540 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS793888541 | Health Risk | Pathogenic | Branchiooculofacial syndrome, Branchiooculofacial syndrome |
| RS151344530 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Branchiooculofacial syndrome, Inborn genetic diseases |
| RS151344531 | Health Risk | Pathogenic/Likely pathogenic | Branchiooculofacial syndrome, Inborn genetic diseases, Branchiooculofacial syndrome |