TFAP2D transcription factor AP-2 delta
Gene ID: 83741, updated on 18-Sep-2024Gene type: protein coding
Also known as: TFAP2BL1; AP-2delta
- See all available tests in GTR for this gene
- Go to complete Gene record for TFAP2D
- Go to Variation Viewer for TFAP2D variants
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in anatomical structure development; regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within inferior colliculus development; negative regulation of neuron apoptotic process; and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. GeneReviews: Not available |
Genomic context
- Location:
- 6p12.3
- Sequence:
- Chromosome: 6; NC_000006.12 (50713526..50773033)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TFAP2D variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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