Gene
tfap2a
- ID
- ZDB-GENE-011212-6
- Name
- transcription factor AP-2 alpha
- Symbol
- tfap2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within with a positive effect on melanocyte differentiation. Acts upstream of or within several processes, including embryonic organ morphogenesis; nervous system development; and neural crest cell differentiation. Located in nucleus. Is expressed in several structures, including ectoderm; nervous system; neural crest; neural tube; and pronephros. Human ortholog(s) of this gene implicated in branchiooculofacial syndrome. Orthologous to human TFAP2A (transcription factor AP-2 alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 83 figures from 59 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb93 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 44 figures from 18 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| branchiooculofacial syndrome | Alliance | Branchiooculofacial syndrome | 113620 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Transcription factor AP-2 | Transcription factor AP-2 alpha, N-terminal | Transcription factor AP-2, C-terminal |
|---|---|---|---|---|---|
| UniProtKB:A0A8M2B9E2 | InterPro | 457 | |||
| UniProtKB:F1QUT4 | InterPro | 437 | |||
| UniProtKB:A0A2R8QRQ5 | InterPro | 450 | |||
| UniProtKB:Q6NYI3 | InterPro | 425 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tfap2a-201
(1)
|
Ensembl | 2,674 nt | ||
| mRNA |
tfap2a-202
(1)
|
Ensembl | 2,483 nt | ||
| mRNA |
tfap2a-203
(1)
|
Ensembl | 2,458 nt | ||
| mRNA |
tfap2a-204
(1)
|
Ensembl | 2,860 nt | ||
| mRNA |
tfap2a-205
(1)
|
Ensembl | 2,506 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-tfap2a | polyclonal | IgG | Rabbit |
|
AnaSpec
|
2 | |
| Ab2-tfap2a | polyclonal | Goat |
|
LifeSpan BioSciences, Inc.
|
4 |
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Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contains | SNP | rs3729319 | ZFIN Curated Data | |
| Contains | SNP | rs3729320 | ZFIN Curated Data | |
| Contains | SNP | rs3729321 | ZFIN Curated Data | |
| Encodes | EST | cb93 | Thisse et al., 2001 | |
| Encodes | EST | fb83f04 | ZFIN Curated Data | |
| Encodes | EST | fc31a07 | Holzschuh et al., 2003 | |
| Encodes | cDNA | MGC:73067 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:76915 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001319159 (1) | 2860 nt | ||
| Genomic | GenBank:LO018137 (1) | 36327 nt | ||
| Polypeptide | UniProtKB:A0A8M2B9E2 (1) | 457 aa |
- Lin, S.J., Huang, K., Petree, C., Qin, W., Varshney, P., Varshney, G.K. (2025) Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic acids research. 53:
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Nguyen, T.T., Mitchell, J.M., Kiel, M.D., Kenny, C.P., Li, H., Jones, K.L., Cornell, R.A., Williams, T.J., Nichols, J.T., Van Otterloo, E. (2023) TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway. Development (Cambridge, England). 151(1):
- Saunders, L.M., Srivatsan, S.R., Duran, M., Dorrity, M.W., Ewing, B., Linbo, T.H., Shendure, J., Raible, D.W., Moens, C.B., Kimelman, D., Trapnell, C. (2023) Embryo-scale reverse genetics at single-cell resolution. Nature. 623(7988):782-791
- Feng, G., Sun, Y. (2022) The Polycomb group gene rnf2 is essential for central and enteric neural system development in zebrafish. Frontiers in neuroscience. 16:960149
- Jin, M., Zhang, H., Xu, B., Li, Y., Qin, H., Yu, S., He, J. (2022) Jag2b-Notch3/1b-mediated neuron-to-glia crosstalk controls retinal gliogenesis. EMBO reports. 23(10):e54922
- Kenny, C., Dilshat, R., Seberg, H.E., Van Otterloo, E., Bonde, G., Helverson, A., Franke, C.M., Steingrímsson, E., Cornell, R.A. (2022) TFAP2 paralogs facilitate chromatin access for MITF at pigmentation and cell proliferation genes. PLoS Genetics. 18:e1010207
- Okeke, C., Paulding, D., Riedel, A., Paudel, S., Phelan, C., Teng, C.S., Barske, L. (2022) Control of cranial ectomesenchyme fate by Nr2f nuclear receptors. Development (Cambridge, England). 149(23):
- Vöcking, O., Van Der Meulen, K., Patel, M.K., Famulski, J.K. (2022) Zebrafish anterior segment mesenchyme progenitors are defined by function of tfap2a but not sox10. Differentiation; research in biological diversity. 130:324232-42
- Zhou, J., Yang, Y.J., Gan, R.H., Wang, Y., Li, Z., Zhang, X.J., Gui, J.F., Zhou, L. (2022) Foxl2a and Foxl2b are involved in midbrain-hindbrain boundary development in zebrafish. Gene expression patterns : GEP. 46:119286
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