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TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001032280 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001042425 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_003220 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006715175 PREDICTED: Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol TFAP2A
Entrez Gene ID 7020
Full Name transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Synonyms AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
General protein information
Preferred Names
transcription factor AP-2-alpha
Names
transcription factor AP-2-alpha
AP2-alpha
activator protein 2
AP-2 transcription factor
activating enhancer-binding protein 2-alpha
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p24

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].
Disorder

MIM: 107580

Branchiooculofacial syndrome, 113620 (3)

mRNA Protein Product Sequence Price Select
NM_001032280, 109389356 NP_001027451, 73760407 transcription factor AP-2-alpha isoform b ORF Sequence $550.00
NM_001042425, 109389357 NP_001035890, 109389358 transcription factor AP-2-alpha isoform c ORF Sequence $550.00
NM_003220, 109389359 NP_003211, 4507441 transcription factor AP-2-alpha isoform a ORF Sequence $550.00
XM_006715175, 578811884 XP_006715238, 578811885 transcription factor AP-2-alpha isoform X1 ORF Sequence $550.00
WikiPathways
WP363Wnt Signaling Pathway NetPath
WP2064Neural Crest Differentiation
WP2355Corticotropin-releasing hormone
Pathway Interaction Database
caspase_pathwayCaspase cascade in apoptosis
Homo sapiens (human)TFAP2ANP_003211.1
Pan troglodytes (chimpanzee)TFAP2AXP_001166719.1
Macaca mulatta (Rhesus monkey)TFAP2AXP_001089006.2
Canis lupus familiaris (dog)LOC488213XP_848968.1
Bos taurus (cattle)TFAP2ANP_001073697.1
Mus musculus (house mouse)Tfap2aNP_035677.2
Rattus norvegicus (Norway rat)Tfap2aNP_001100815.1
Gallus gallus (chicken)TFAP2ANP_990425.1
Danio rerio (zebrafish)tfap2aNP_789829.1
Drosophila melanogaster (fruit fly)AP-2NP_001262179.1
Xenopus (Silurana) tropicalis (western clawed frog)tfap2aNP_001032335.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIDA
GO:0001822kidney developmentIMP
GO:0003151outflow tract morphogenesisIEA
GO:0003334keratinocyte developmentIEA
GO:0003404optic vesicle morphogenesisISS
GO:0003409optic cup structural organizationISS
GO:0006366transcription from RNA polymerase II promoterIDA
GO:0007605sensory perception of soundIMP
GO:0008285negative regulation of cell proliferationIDA
GO:0009880embryonic pattern specificationIEA
GO:0010172embryonic body morphogenesisIEA
GO:0010628positive regulation of gene expressionISS
GO:0010842retina layer formationIEP
GO:0010944negative regulation of transcription by competitive promoter bindingIDA
GO:0010944negative regulation of transcription by competitive promoter bindingIMP
GO:0014032neural crest cell developmentIEA
GO:0021506anterior neuropore closureIEA
GO:0021559trigeminal nerve developmentISS
GO:0021623oculomotor nerve formationISS
GO:0021884forebrain neuron developmentIEA
GO:0030335positive regulation of cell migrationIEA
GO:0030501positive regulation of bone mineralizationIDA
GO:0035115embryonic forelimb morphogenesisISS
GO:0042059negative regulation of epidermal growth factor receptor signaling pathwayIEA
GO:0042472inner ear morphogenesisIMP
GO:0043066negative regulation of apoptotic processIDA
GO:0043524negative regulation of neuron apoptotic processIEA
GO:0043525positive regulation of neuron apoptotic processIDA
GO:0045595regulation of cell differentiationIDA
GO:0045664regulation of neuron differentiationIEA
GO:0045892negative regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedISS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0048485sympathetic nervous system developmentIEA
GO:0048701embryonic cranial skeleton morphogenesisISS
GO:0048730epidermis morphogenesisIEA
GO:0060021palate developmentIMP
GO:0060235lens induction in camera-type eyeIEA
GO:0060325face morphogenesisIEA
GO:0060349bone morphogenesisISS
GO:0061029eyelid development in camera-type eyeISS
GO:0061303cornea development in camera-type eyeIEA
GO:0070172positive regulation of tooth mineralizationIDA
GO:0071281cellular response to iron ionIDA
GO:0071711basement membrane organizationIEA
GO:0072210metanephric nephron developmentIEA
GO:2000378negative regulation of reactive oxygen species metabolic processIDA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005634nucleusIMP
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005794Golgi apparatusIDA
GO:0005813centrosomeIDA
GO:0043231intracellular membrane-bounded organelleIDA
Function
IDNameEvidence
GO:0000976transcription regulatory region sequence-specific DNA bindingIDA
GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA bindingIDA
GO:0000979RNA polymerase II core promoter sequence-specific DNA bindingIDA
GO:0000980RNA polymerase II distal enhancer sequence-specific DNA bindingIEA
GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activityIDA
GO:0000982RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activityIDA
GO:0000987core promoter proximal region sequence-specific DNA bindingIDA
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIDA
GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionIDA
GO:0001105RNA polymerase II transcription coactivator activityIEA
GO:0001106RNA polymerase II transcription corepressor activityIEA
GO:0003682chromatin bindingISS
GO:0003713transcription coactivator activityIDA
GO:0005515protein bindingIPI
GO:0042803protein homodimerization activityTAS
GO:0043565sequence-specific DNA bindingIDA
GO:0044212transcription regulatory region DNA bindingIDA
GO:0046983protein dimerization activityIDA
GeneCards TFAP2A
UniProt P05549
Vega OTTHUMG00000014235
MIM 107580
Ensembl ENSG00000137203
HGNC 11742
HPRD 00128

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TFAP2A gene?

The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2α is one of a group of related proteins called AP-2 transcription factors. These proteins regulate genes that help control cell division and the self-destruction (apoptosis) of cells that are no longer needed.

Transcription factor AP-2α is involved in development before birth. In particular, this protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Among the embryonic structures formed from neural crest cells are the branchial arches, which develop into the bones and other tissues of the head and neck. The TFAP2A gene appears to be especially important for the development of tissues derived from the first and second branchial arches.

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