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0AP2A_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameTFAP2A
DescriptionTranscription factor ap-2 alpha (ap2-alpha) (activating enhancer- binding protein 2 alpha) (ap-2 transcription factor) (activator protein 2) (ap-2).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005634 nucleus (TAS)
0003713 transcription coactivator activity (TAS)
0003700 transcription factor activity (NAS)
0007398 ectoderm development (TAS)
0006357 regulation of transcription from RNA polyme... (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Activator protein-2 (AP-2) transcription factors constitute a family ofclosely related and evolutionarily conserved proteins that bind to the DNA consensus sequence GCCNNNGGC and stimulate target gene transcription.Four different isoforms of AP-2 have been identified in mammals.ermed AP-2alpha.eta.amma and delta. Each family member shares a common structure.ossessing a proline/glutamine-rich domain in the N-terminal region.hich is responsible for transcriptional activation .nd a helix-span-helixdomain in the C-terminal region.hich mediates dimerisation and site-specific DNA binding .The AP-2 family have been shown to be critical regulators of gene expressionduring embryogenesis. They regulate the development of facial prominence andlimb buds.nd are essential for cranial closure and development of the lens; they have also been implicated in tumorigenesis. AP-2 protein expression levels have been found to affect cell transformation.umour growth and metastasis.nd may predict survival in some types of cancer.his entry represents the C-terminal region of these proteins.ncluding the helix-span-helix domain.
  IPR013854:Transcription factor AP-2, C-terminal
Activator protein-2 (AP-2) transcription factors constitute a family ofclosely related and evolutionarily conserved proteins that bind to the DNA consensus sequence GCCNNNGGC and stimulate target gene transcription.Four different isoforms of AP-2 have been identified in mammals.ermed AP-2alpha.eta.amma and delta. Each family member shares a common structure.ossessing a proline/glutamine-rich domain in the N-terminal region.hich is responsible for transcriptional activation .nd a helix-span-helixdomain in the C-terminal region.hich mediates dimerisation and site-specific DNA binding .The AP-2 family have been shown to be critical regulators of gene expressionduring embryogenesis. They regulate the development of facial prominence andlimb buds.nd are essential for cranial closure and development of the lens; they have also been implicated in tumorigenesis. AP-2 protein expression levels have been found to affect cell transformation.umour growth and metastasis.nd may predict survival in some types of cancer.
  IPR004979:Transcription factor AP-2
Activator protein-2 (AP-2) transcription factors constitute a family ofclosely related and evolutionarily conserved proteins that bind to the DNA consensus sequence GCCNNNGGC and stimulate target gene transcription.Four different isoforms of AP-2 have been identified in mammals.ermed AP-2alpha.eta.amma and delta. Each family member shares a common structure.ossessing a proline/glutamine-rich domain in the N-terminal region.hich is responsible for transcriptional activation .nd a helix-span-helixdomain in the C-terminal region.hich mediates dimerisation and site-specific DNA binding .The AP-2 family have been shown to be critical regulators of gene expressionduring embryogenesis. They regulate the development of facial prominence andlimb buds.nd are essential for cranial closure and development of the lens; they have also been implicated in tumorigenesis. AP-2 protein expression levels have been found to affect cell transformation.umour growth and metastasis.nd may predict survival in some types of cancer.P-2 alpha was initially isolated from human HeLa cells . The protein wasshown to bind to enhancer regions of the SV40 and human metallothionein IIA promoters.nd to stimulate RNA synthesis . AP-2 alpha gene knockout in mice causes neural-tube defects during embryogenesis.eading to craniofacialabnormalities and anencephaly . In humans.eletion of chromosome 6region 6p24-p25.hich includes the AP-2 alpha gene.s associated withmicrophthalmia.orneal clouding and a number of other dysmorphic features.ncluding hypertelorism.icrognathia.ysplastic ears.hin limbs.nd congenital cardiac defects.This entry represents the N-terminal region of these proteins.ncluding the transcriptional activation domain.
  IPR008121:Transcription factor AP-2 alpha, N-terminal
IPR013854:TF_AP-2 
Evalue:-142.136672973633 
Location:207-414IPR008121:AP2ATNSCPFCT 
Evalue:0 
Location:24-38IPR008121:AP2ATNSCPFCT 
Evalue:0 
Location:106-117IPR008121:AP2ATNSCPFCT 
Evalue:0 
Location:86-96
SequencesProtein: AP2A_HUMAN (437 aa)
mRNA: NM_003220
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 181 residues, 10506384-10506924Exon2: 49 residues, 10508666-10508808Exon3: 41 residues, 10510710-10510829Exon4: 79 residues, 10512726-10512958Exon5: 19 residues, 10515011-10515063Exon6: 147 residues, 10518119-10518554Exon7: 33 residues, 10523159-10523252Exon8: 2 residues, -Jump to AP2A_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3521 10803173-10817954 ~-15K 30310(PAK1IP1)(+)Loci: 4768 10506384-10523252 ~-17K 30300(TFAP2A)(-)Link out to UCSC