TFAP2A - transcription factor AP-2 alpha Gene
Also Known as AP-2; BOFS; AP2TF; TFAP2; AP-2alpha
Species: Homo sapiens
About TFAP2A
This gene has 19 transcripts (splice variants), 204 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 17.3), placenta (RPKM 12.3) and 5 other tissues.
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]
TFAP2A Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001032280.3 | NP_001027451.1 | transcription factor AP-2-alpha isoform b |
| NM_001042425.3 | NP_001035890.1 | transcription factor AP-2-alpha isoform c |
| NM_001372066.1 | NP_001358995.1 | transcription factor AP-2-alpha isoform a |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16236267 | GOA |
| located in nucleus |
IMP
IMP: Inferred from mutant phenotype
|
12586840 | GOA |
TFAP2A Protein Structure
TF_AP-2: Transcription factor AP-2 (207 - 413)
- 0
- 100
- 200
- 300
- 400
- 437 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription factor AP-2-alpha |
|
TFAP2A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TFAP2A | P05549 | GSTO2 | Homo sapiens | Q9H4Y5 | 31515488 | |
|
Intra
|
TFAP2A | P05549 | GSTO2 | Homo sapiens | Q9H4Y5 | 25416956 | |
|
Intra
|
TFAP2A | P05549 | ACOT1 | Homo sapiens | Q86TX2 | 33961781 | |
|
Intra
|
TFAP2A | P05549 | ACOT1 | Homo sapiens | Q86TX2 | 28514442 | |
|
Intra
|
TFAP2A | P05549 | MKRN3 | Homo sapiens | Q13064 | 25416956 | |
|
Intra
|
TFAP2A | P05549 | EP300 | Homo sapiens | Q09472 | 12586840 | |
|
Intra
|
TFAP2A | P05549 | MAX | Homo sapiens | P61244 | 25609649 | |
|
Intra
|
TFAP2A | P05549 | NPM1 | Homo sapiens | P06748 | 17318229 | |
|
Intra
|
TFAP2A | P05549 | NPM1 | Homo sapiens | P06748 | 17318229 | |
|
Intra
|
TFAP2A | P05549 | NPM1 | Homo sapiens | P06748 | 17318229 | |
|
Intra
|
TFAP2A | P05549 | UBE2I | Homo sapiens | P63279 | 24835590 | |
|
Intra
|
TFAP2A | P05549 | UBE2I | Homo sapiens | P63279 | 12072434 |
TFAP2A Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82364 | AP2 alpha Antibody (YA2109) | WB, IP | Rat |
| HY-P82364A | AP2 alpha Antibody (YA2109)(PBS only) | WB, IP | Rat |
| HY-P83704 | Transcription factor AP2 alpha Antibody (YA3441) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P83961 | TFAP2A Antibody (YA3658) | WB, IHC-P, FC, ELISA | Human, Mouse, Monkey, Rat |
| HY-P83961A | TFAP2A Antibody (YA3658)(PBS only) | WB, IHC-P, FC, ELISA | Human, Mouse, Monkey, Rat |
| HY-P83962 | TFAP2A Antibody (YA3659) | WB, ICC/IF, FC, ELISA | Human |
| HY-P83962A | TFAP2A Antibody (YA3659)(PBS only) | WB, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Branchiooculofacial Syndrome |
|
|
| Amblyopia |
|
|
| Lens Subluxation |
|
|
| Esotropia |
|
|
| Coloboma Of Iris |
|
|
| Microphthalmia |
|
|
| Epicanthus |
|
|
| Hypertelorism |
|
|
| Colobomatous Microphthalmia |
|
|
| Branchiootorenal Syndrome |
|
|
| Branchiootorenal Syndrome 1 |
|
|
| Cleft Lip |
|
|
| Cleft Lip With Or Without Cleft Palate |
|
|
| Char Syndrome |
|
|
| Choriocarcinoma |
|
|
| Ectopic Thymus |
|
|
| Lacrimal Duct Obstruction |
|
|
| Orofacial Cleft 1 |
|
|
| Peters-Plus Syndrome |
|
|
| Bernard-Soulier Syndrome |
|
|
| Van Der Woude Syndrome |
|
|
| Melanoma |
|
|
| Popliteal Pterygium Syndrome |
|
|
| Colorectal Cancer |
|
|
| Fraser Syndrome 1 |
|
|
| Cleft Palate, Isolated |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Hepatocellular Carcinoma |
|
|
| Lung Cancer |
|
|
| Wilson Disease |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Breast Cancer |
|
|
| Orofacial Cleft |
|
|
| Sclerocornea |
|
|
| Coloboma Of Macula |
|
|
| Prostate Cancer |
|
|
| Double Outlet Right Ventricle |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Hirschsprung Disease 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Tetralogy Of Fallot |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TFAP2A | MGD | MGI:104671 |
| Canis familiaris | TFAP2A | VGNC | VGNC:47283 |
| Rattus norvegicus | TFAP2A | RGD | RGD:1310267 |
| Felis catus | TFAP2A | VGNC | VGNC:66108 |
| Macaca mulatta | TFAP2A | VGNC | VGNC:78320 |
| Bos taurus | TFAP2A | VGNC | VGNC:35776 |
| Others | TFAP2A | NCBI |