TFAP2A transcription factor AP-2 alpha
Gene ID: 7020, updated on 2-Nov-2024Gene type: protein coding
Also known as: AP-2; BOFS; AP2TF; TFAP2; AP-2alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for TFAP2A
- Go to Variation Viewer for TFAP2A variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available | not available |
| Branchiooculofacial syndrome | not available |
| Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available |
Genomic context
- Location:
- 6p24.3
- Sequence:
- Chromosome: 6; NC_000006.12 (10396677..10419659, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TFAP2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TFAP2A database
- Variation ViewerRelated Variants
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