Details for: TFAP2A

Gene ID: 7020

Symbol: TFAP2A

Ensembl ID: ENSG00000137203

Description: transcription factor AP-2 alpha

Associated with

  • Activation of the tfap2 (ap-2) family of transcription factors
    (R-HSA-8866907)
  • Developmental biology
    (R-HSA-1266738)
  • Gastrulation
    (R-HSA-9758941)
  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Metabolism of proteins
    (R-HSA-392499)
  • Negative regulation of activity of tfap2 (ap-2) family transcription factors
    (R-HSA-8866904)
  • Post-translational protein modification
    (R-HSA-597592)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Specification of the neural plate border
    (R-HSA-9834899)
  • Sumo e3 ligases sumoylate target proteins
    (R-HSA-3108232)
  • Sumoylation
    (R-HSA-2990846)
  • Sumoylation of transcription factors
    (R-HSA-3232118)
  • Tfap2 (ap-2) family regulates transcription of cell cycle factors
    (R-HSA-8866911)
  • Tfap2 (ap-2) family regulates transcription of growth factors and their receptors
    (R-HSA-8866910)
  • Tfap2 (ap-2) family regulates transcription of other transcription factors
    (R-HSA-8866906)
  • Tfap2a acts as a transcriptional repressor during retinoic acid induced cell differentiation
    (R-HSA-8869496)
  • Transcriptional regulation by the ap-2 (tfap2) family of transcription factors
    (R-HSA-8864260)
  • Anatomical structure development
    (GO:0048856)
  • Bone morphogenesis
    (GO:0060349)
  • Cellular response to iron ion
    (GO:0071281)
  • Chromatin
    (GO:0000785)
  • Chromatin binding
    (GO:0003682)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription repressor activity, rna polymerase ii-specific
    (GO:0001227)
  • Dna binding
    (GO:0003677)
  • Embryonic cranial skeleton morphogenesis
    (GO:0048701)
  • Embryonic forelimb morphogenesis
    (GO:0035115)
  • Eyelid development in camera-type eye
    (GO:0061029)
  • Identical protein binding
    (GO:0042802)
  • Inner ear morphogenesis
    (GO:0042472)
  • Kidney development
    (GO:0001822)
  • Negative regulation of apoptotic process
    (GO:0043066)
  • Negative regulation of cell population proliferation
    (GO:0008285)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of reactive oxygen species metabolic process
    (GO:2000378)
  • Negative regulation of transcription by competitive promoter binding
    (GO:0010944)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nuclear receptor corepressor activity
    (GO:0140536)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Oculomotor nerve formation
    (GO:0021623)
  • Optic cup structural organization
    (GO:0003409)
  • Optic vesicle morphogenesis
    (GO:0003404)
  • Positive regulation of bone mineralization
    (GO:0030501)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of neuron apoptotic process
    (GO:0043525)
  • Positive regulation of tooth mineralization
    (GO:0070172)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of cell differentiation
    (GO:0045595)
  • Regulation of cell population proliferation
    (GO:0042127)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Retina layer formation
    (GO:0010842)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Roof of mouth development
    (GO:0060021)
  • Sensory perception of sound
    (GO:0007605)
  • Sequence-specific dna binding
    (GO:0043565)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Trigeminal nerve development
    (GO:0021559)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.74
    Marker Score: 5570
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.19
    Marker Score: 8592.5
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.02
    Marker Score: 1658
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2
    Marker Score: 7692.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.9
    Marker Score: 1639
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.85
    Marker Score: 2482
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.58
    Marker Score: 1662
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.53
    Marker Score: 2703
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.39
    Marker Score: 1574
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.37
    Marker Score: 1449
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 866
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.26
    Marker Score: 1053
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.24
    Marker Score: 3125
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.2
    Marker Score: 406
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.19
    Marker Score: 866
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.19
    Marker Score: 2080
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 485
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.17
    Marker Score: 1412
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.16
    Marker Score: 2637
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.15
    Marker Score: 38723
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.13
    Marker Score: 1459
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.11
    Marker Score: 1050
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.09
    Marker Score: 1536
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.08
    Marker Score: 253
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.07
    Marker Score: 432
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.06
    Marker Score: 1278
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.04
    Marker Score: 1969
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 793
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251797
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1
    Marker Score: 1107
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1
    Marker Score: 678
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1
    Marker Score: 7449.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1
    Marker Score: 8586
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.99
    Marker Score: 347
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.96
    Marker Score: 312
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.94
    Marker Score: 1003
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5325
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.91
    Marker Score: 396
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.9
    Marker Score: 696
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9
    Marker Score: 415
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.9
    Marker Score: 176
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.89
    Marker Score: 839
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.88
    Marker Score: 1295
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.88
    Marker Score: 1785
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.83
    Marker Score: 733
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.82
    Marker Score: 384
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.81
    Marker Score: 325
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.81
    Marker Score: 1974.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.79
    Marker Score: 12376
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1259
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.77
    Marker Score: 6051
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.75
    Marker Score: 215
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3117
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.74
    Marker Score: 1067
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.74
    Marker Score: 503
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.74
    Marker Score: 364
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.74
    Marker Score: 213
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.72
    Marker Score: 319
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.72
    Marker Score: 228
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.71
    Marker Score: 561
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.7
    Marker Score: 1158
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.69
    Marker Score: 246
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.69
    Marker Score: 403
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.65
    Marker Score: 453
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.64
    Marker Score: 630
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.63
    Marker Score: 561
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.62
    Marker Score: 3059
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.6
    Marker Score: 399
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.59
    Marker Score: 368
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 445
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 229
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.54
    Marker Score: 326
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.53
    Marker Score: 7166
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.52
    Marker Score: 643
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.51
    Marker Score: 1213
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.51
    Marker Score: 592
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.48
    Marker Score: 228
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.47
    Marker Score: 113
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.45
    Marker Score: 90
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.43
    Marker Score: 246
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.43
    Marker Score: 139
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.43
    Marker Score: 228
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 0.43
    Marker Score: 137
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.43
    Marker Score: 135
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.42
    Marker Score: 3612

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Other Information

**Key Characteristics** 1. **Transcriptional Regulation**: TFAP2A acts as a transcriptional activator or repressor, regulating the expression of target genes involved in various cellular processes. 2. **AP-2 Family**: TFAP2A is a member of the AP-2 family of transcription factors, which are characterized by their ability to bind to specific DNA sequences and regulate gene expression. 3. **Cellular Expression**: TFAP2A is highly expressed in various cell types, including GABAergic amacrine cells, placental villous trophoblasts, and other epithelial cells. 4. **Tissue-Specific Expression**: TFAP2A is expressed in multiple tissues and organs, including the nervous system, epithelial tissues, and the placenta. **Pathways and Functions** 1. **Developmental Biology**: TFAP2A plays a crucial role in the development of various tissues and organs, including the nervous system, epithelial tissues, and the placenta. 2. **Gene Expression**: TFAP2A regulates the expression of numerous genes involved in development, growth, and differentiation. 3. **Cell Differentiation**: TFAP2A is involved in the regulation of cell differentiation, particularly in the nervous system and epithelial tissues. 4. **Morphogenesis**: TFAP2A plays a role in the morphogenesis of various tissues and organs, including the development of the neural plate border and the formation of the optic cup. 5. **Apoptosis**: TFAP2A has been implicated in the regulation of apoptosis, particularly in the context of retinoic acid-induced cell differentiation. **Clinical Significance** 1. **Cancer**: TFAP2A has been implicated in various cancers, including breast, lung, and colon cancer. 2. **Neurological Disorders**: TFAP2A has been associated with neurological disorders, including autism, schizophrenia, and Alzheimer's disease. 3. **Developmental Abnormalities**: TFAP2A has been implicated in developmental abnormalities, including craniofacial defects and neural tube defects. 4. **Reproductive Disorders**: TFAP2A has been associated with reproductive disorders, including infertility and miscarriage. 5. **Gene Therapy**: TFAP2A has been targeted for gene therapy in the treatment of various diseases, including cancer and neurological disorders. In conclusion, TFAP2A is a crucial transcription factor involved in various developmental and cellular processes. Its dysregulation has been implicated in various diseases and disorders, highlighting the importance of further research into the role of TFAP2A in human health and disease.

Genular Protein ID: 2219401145

Symbol: AP2A_HUMAN

Name: Transcription factor AP-2-alpha

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3063603

Title: Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.

PubMed ID: 3063603

DOI: 10.1101/gad.2.12a.1557

PubMed ID: 8321221

Title: An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2.

PubMed ID: 8321221

DOI: 10.1128/mcb.13.7.4174-4185.1993

PubMed ID: 8190633

Title: The genomic structure of the human AP-2 transcription factor.

PubMed ID: 8190633

DOI: 10.1093/nar/22.8.1413

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1998122

Title: Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins.

PubMed ID: 1998122

DOI: 10.1126/science.1998122

PubMed ID: 2010091

Title: Analysis of the DNA-binding and activation properties of the human transcription factor AP-2.

PubMed ID: 2010091

DOI: 10.1101/gad.5.4.670

PubMed ID: 10037142

Title: Transcription factor AP-2 activity is modulated by protein kinase A-mediated phosphorylation.

PubMed ID: 10037142

DOI: 10.1016/s0014-5793(99)00021-6

PubMed ID: 11694877

Title: Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator.

PubMed ID: 11694877

DOI: 10.1038/ng768

PubMed ID: 11744733

Title: Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2.

PubMed ID: 11744733

DOI: 10.1074/jbc.m110850200

PubMed ID: 12072434

Title: Transcription factor AP-2 interacts with the SUMO-conjugating enzyme UBC9 and is sumolated in vivo.

PubMed ID: 12072434

DOI: 10.1074/jbc.m202780200

PubMed ID: 12586840

Title: Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2.

PubMed ID: 12586840

DOI: 10.1074/jbc.m208144200

PubMed ID: 12775724

Title: RLIP, an effector of the Ral GTPases, is a platform for Cdk1 to phosphorylate epsin during the switch off of endocytosis in mitosis.

PubMed ID: 12775724

DOI: 10.1074/jbc.m302191200

PubMed ID: 15548692

Title: Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor.

PubMed ID: 15548692

DOI: 10.1158/0008-5472.can-04-2055

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19115315

Title: The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation.

PubMed ID: 19115315

DOI: 10.1002/jcb.22002

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23382213

Title: Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.

PubMed ID: 23382213

DOI: 10.1073/pnas.1300203110

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 18423521

Title: TFAP2A mutations result in branchio-oculo-facial syndrome.

PubMed ID: 18423521

DOI: 10.1016/j.ajhg.2008.03.005

Sequence Information:

  • Length: 437
  • Mass: 48062
  • Checksum: FB8FA33C3AEED71F
  • Sequence:
  • MLWKLTDNIK YEDCEDRHDG TSNGTARLPQ LGTVGQSPYT SAPPLSHTPN ADFQPPYFPP 
    PYQPIYPQSQ DPYSHVNDPY SLNPLHAQPQ PQHPGWPGQR QSQESGLLHT HRGLPHQLSG 
    LDPRRDYRRH EDLLHGPHAL SSGLGDLSIH SLPHAIEEVP HVEDPGINIP DQTVIKKGPV 
    SLSKSNSNAV SAIPINKDNL FGGVVNPNEV FCSVPGRLSL LSSTSKYKVT VAEVQRRLSP 
    PECLNASLLG GVLRRAKSKN GGRSLREKLD KIGLNLPAGR RKAANVTLLT SLVEGEAVHL 
    ARDFGYVCET EFPAKAVAEF LNRQHSDPNE QVTRKNMLLA TKQICKEFTD LLAQDRSPLG 
    NSRPNPILEP GIQSCLTHFN LISHGFGSPA VCAAVTALQN YLTEALKAMD KMYLSNNPNS 
    HTDNNAKSSD KEEKHRK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.