======= TFAP2A ======= == Gene Information == * **Official Symbol**: TFAP2A * **Official Name**: transcription factor AP-2 alpha * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7020|7020]] * **UniProt**: [[https://www.uniprot.org/uniprot/P05549|P05549]] * **Interactions**: [[https://thebiogrid.org/search.php?search=TFAP2A&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TFAP2A|Open PubMed]] * **OMIM**: [[https://omim.org/entry/107580|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: 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. {ECO:0000269|PubMed:11694877, ECO:0000269|PubMed:12586840}. |TF AP-2| |optic cup structural organization| |oculomotor nerve morphogenesis| |optic vesicle morphogenesis| |oculomotor nerve formation| |oculomotor nerve development| |positive regulation of tooth mineralization| |optic cup morphogenesis involved in camera-type eye development| |cranial nerve formation| |regulation of tooth mineralization| |negative regulation of transcription by competitive promoter binding| |cellular response to iron ion| |positive regulation of odontogenesis| |embryonic camera-type eye formation| |trigeminal nerve development| |eyelid development in camera-type eye| |anatomical structure arrangement| |preganglionic parasympathetic fiber development| |parasympathetic nervous system development| |retina layer formation| |embryonic camera-type eye morphogenesis| |regulation of odontogenesis| |cranial nerve morphogenesis| |proximal promoter sequence-specific DNA binding| |response to iron ion| |embryonic forelimb morphogenesis| |embryonic eye morphogenesis| |embryonic camera-type eye development| |positive regulation of bone mineralization| |forelimb morphogenesis| |embryonic cranial skeleton morphogenesis| |autonomic nervous system development| |positive regulation of biomineral tissue development| |positive regulation of biomineralization| |retina morphogenesis in camera-type eye| |cranial nerve development| |negative regulation of reactive oxygen species metabolic process| |positive regulation of neuron apoptotic process| |neural retina development| |cranial skeletal system development| |regulation of bone mineralization| |transcription regulatory region sequence-specific DNA binding| |nerve development| |positive regulation of animal organ morphogenesis| |positive regulation of ossification| |roof of mouth development| |positive regulation of neuron death| |regulation of biomineral tissue development| |regulation of biomineralization| |embryonic skeletal system morphogenesis| |inner ear morphogenesis| |camera-type eye morphogenesis| |bone morphogenesis| |ear morphogenesis| |embryonic appendage morphogenesis| |embryonic limb morphogenesis| |embryonic skeletal system development| |retina development in camera-type eye| |morphogenesis of embryonic epithelium| |sensory perception of sound| |eye morphogenesis| |limb morphogenesis| |appendage morphogenesis| |protein dimerization activity| |sensory perception of mechanical stimulus| |regulation of reactive oxygen species metabolic process| |limb development| |appendage development| |regulation of ossification| |cellular response to metal ion| |inner ear development| |bone development| |regulation of neuron apoptotic process| |transcription regulatory region DNA binding| |cellular response to inorganic substance| |ear development| |skeletal system morphogenesis| |DNA-binding transcription repressor activity, RNA polymerase II-specific| |sensory organ morphogenesis| |regulation of animal organ morphogenesis| |kidney development| |transcription coactivator activity| |renal system development| |embryonic organ morphogenesis| |regulation of neuron death| |RNA polymerase II regulatory region sequence-specific DNA binding| |camera-type eye development| |urogenital system development| |eye development| |visual system development| |sensory system development| |response to metal ion| |chromatin binding| |sequence-specific DNA binding| |morphogenesis of an epithelium| |embryonic organ development| |DNA-binding transcription activator activity, RNA polymerase II-specific| |centrosome| |skeletal system development| |RNA polymerase II proximal promoter sequence-specific DNA binding| |response to inorganic substance| |sensory organ development| |tissue morphogenesis| |embryonic morphogenesis| |chordate embryonic development| |positive regulation of apoptotic process| |positive regulation of programmed cell death| |embryo development ending in birth or egg hatching| |negative regulation of cell population proliferation| |intracellular membrane-bounded organelle| |positive regulation of cell death| |negative regulation of transcription by RNA polymerase II| |protein homodimerization activity| |negative regulation of apoptotic process| |anatomical structure formation involved in morphogenesis| |negative regulation of programmed cell death| |animal organ morphogenesis| |sensory perception| |embryo development| |central nervous system development| |Golgi apparatus| |negative regulation of cell death| |regulation of anatomical structure morphogenesis| |epithelium development| |negative regulation of transcription, DNA-templated| |positive regulation of transcription by RNA polymerase II| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of RNA metabolic process| |positive regulation of developmental process| |nervous system process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |negative regulation of cellular biosynthetic process| |regulation of apoptotic process| |positive regulation of transcription, DNA-templated| |negative regulation of biosynthetic process| |DNA-binding transcription factor activity, RNA polymerase II-specific| |regulation of programmed cell death| |regulation of cell population proliferation| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |regulation of cell death| |negative regulation of gene expression| |positive regulation of RNA metabolic process| |positive regulation of multicellular organismal process| |tissue development| |regulation of cell differentiation| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |system process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 5/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|1/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|1/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 13534 * **Expression level (log2 read counts)**: -0.71 {{:chemogenomics:nalm6 dist.png?nolink |}}