| Tag | Content |
|---|---|
| Uniprot ID | P34056; Q60740; Q60741; Q60742; Q60743; Q62067; Q62068; Q62069; Q91VX0; Q9CRY4; |
| Entrez ID | 21418 |
| Genbank protein ID | AAA85681.1; AAA85680.1; CAA40331.1; AAA85678.1; AAA85683.1; CAA52292.1; BAB29047.1; AAH07471.1; AAA85682.1; AAA85679.1; AAH18226.1; AAA85684.1; |
| Genbank nucleotide ID | NM_011547.4; NM_001301674.1; |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Transcription factor AP-2-alpha |
| Gene symbol | Tfap2a |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLP |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 14975722; ; 25381013; 8622766; 8622765; 29229773; |
| Functional description | Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region. |
| Sequence | MLWKLTDNIK YEDCEDRHDG TSNGTARLPQ LGTVGQSPYT SAPPLSHTPN ADFQPPYFPP 60 PYQPIYPQSQ DPYSHVNDPY SLNPLHAQPQ PQHPGWPGQR QSQESGLLHT HRGLPHQLSG 120 LDPRRDYRRH EDLLHGPHAL GSGLGDLPIH SLPHAIEDVP HVEDPGINIP DQTVIKKGPV 180 SLSKSNSNAV SAIPINKDNL FGGVVNPNEV FCSVPGRLSL LSSTSKYKVT VAEVQRRLSP 240 PECLNASLLG GVLRRAKSKN GGRSLREKLD KIGLNLPAGR RKAANVTLLT SLVEGEAVHL 300 ARDFGYVCET EFPAKAVAEF LNRQHSDPNE QVARKNMLLA TKQICKEFTD LLAQDRSPLG 360 NSRPNPILEP GIQSCLTHFN LISHGFGSPA VCAAVTALQN YLTEALKAMD KMYLSNNPNS 420 HTDNSAKSSD KEEKHRK 437 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISO |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISS |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISO |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
| GO:0000987 | cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000987 | cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | ISS |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | ISO |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA |
| GO:0003682 | chromatin binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0003713 | transcription coactivator activity | ISS |
| GO:0003713 | transcription coactivator activity | ISO |
| GO:0003713 | transcription coactivator activity | IDA |
| GO:0003714 | transcription corepressor activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:0043565 | sequence-specific DNA binding | ISO |
| GO:0044212 | transcription regulatory region DNA binding | ISS |
| GO:0044212 | transcription regulatory region DNA binding | ISO |
| GO:0046983 | protein dimerization activity | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0001822 | kidney development | ISS |
| GO:0001822 | kidney development | ISO |
| GO:0001843 | neural tube closure | IMP |
| GO:0002089 | lens morphogenesis in camera-type eye | IMP |
| GO:0003151 | outflow tract morphogenesis | IMP |
| GO:0003334 | keratinocyte development | IGI |
| GO:0003404 | optic vesicle morphogenesis | IMP |
| GO:0003409 | optic cup structural organization | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IDA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IDA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0007399 | nervous system development | IEP |
| GO:0007423 | sensory organ development | IEP |
| GO:0007605 | sensory perception of sound | ISS |
| GO:0007605 | sensory perception of sound | ISO |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0008285 | negative regulation of cell population proliferation | IMP |
| GO:0009880 | embryonic pattern specification | IMP |
| GO:0010172 | embryonic body morphogenesis | IMP |
| GO:0010628 | positive regulation of gene expression | IDA |
| GO:0010944 | negative regulation of transcription by competitive promoter binding | ISS |
| GO:0010944 | negative regulation of transcription by competitive promoter binding | ISO |
| GO:0014032 | neural crest cell development | IMP |
| GO:0021506 | anterior neuropore closure | IMP |
| GO:0021559 | trigeminal nerve development | IMP |
| GO:0021623 | oculomotor nerve formation | IMP |
| GO:0021884 | forebrain neuron development | IMP |
| GO:0030335 | positive regulation of cell migration | IMP |
| GO:0030501 | positive regulation of bone mineralization | ISS |
| GO:0030501 | positive regulation of bone mineralization | ISO |
| GO:0032496 | response to lipopolysaccharide | ISO |
| GO:0035115 | embryonic forelimb morphogenesis | IMP |
| GO:0035136 | forelimb morphogenesis | IMP |
| GO:0042059 | negative regulation of epidermal growth factor receptor signaling pathway | IMP |
| GO:0042127 | regulation of cell population proliferation | IBA |
| GO:0042472 | inner ear morphogenesis | ISS |
| GO:0042472 | inner ear morphogenesis | ISO |
| GO:0043066 | negative regulation of apoptotic process | ISS |
| GO:0043066 | negative regulation of apoptotic process | ISO |
| GO:0043524 | negative regulation of neuron apoptotic process | IGI |
| GO:0043525 | positive regulation of neuron apoptotic process | ISO |
| GO:0043588 | skin development | IGI |
| GO:0043588 | skin development | IEP |
| GO:0045595 | regulation of cell differentiation | ISO |
| GO:0045664 | regulation of neuron differentiation | IMP |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISS |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048485 | sympathetic nervous system development | IGI |
| GO:0048596 | embryonic camera-type eye morphogenesis | IMP |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IMP |
| GO:0048705 | skeletal system morphogenesis | IMP |
| GO:0048730 | epidermis morphogenesis | IMP |
| GO:0060021 | roof of mouth development | ISS |
| GO:0060021 | roof of mouth development | ISO |
| GO:0060235 | lens induction in camera-type eye | IMP |
| GO:0060325 | face morphogenesis | IMP |
| GO:0060349 | bone morphogenesis | IMP |
| GO:0061029 | eyelid development in camera-type eye | IMP |
| GO:0061303 | cornea development in camera-type eye | IMP |
| GO:0070172 | positive regulation of tooth mineralization | ISS |
| GO:0070172 | positive regulation of tooth mineralization | ISO |
| GO:0071281 | cellular response to iron ion | ISS |
| GO:0071281 | cellular response to iron ion | ISO |
| GO:0071711 | basement membrane organization | IMP |
| GO:0072210 | metanephric nephron development | IEP |
| GO:2000378 | negative regulation of reactive oxygen species metabolic process | ISS |
| GO:2000378 | negative regulation of reactive oxygen species metabolic process | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005667 | transcription factor complex | TAS |
| GO:0005829 | cytosol | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-8864260 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | IEA |
| R-MMU-8866904 | Negative regulation of activity of TFAP2 (AP-2) family transcription factors | IEA |
| R-MMU-8866907 | Activation of the TFAP2 (AP-2) family of transcription factors | IEA |
| R-MMU-8869496 | TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation | IEA |
| Pfam ID | Pfam Term |
|---|---|
| PF03299 | TF_AP-2 |