InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TFAP2A

Summary

InnateDB Protein

IDBP-60628.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TFAP2A

Protein Name

transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

Synonyms

AP-2; AP-2alpha; AP2TF; BOFS; TFAP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000368928

InnateDB Gene

IDBG-60624 (TFAP2A)

Protein Structure

UniProt Annotation

Function

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:0000269PubMed:11694877, ECO:0000269PubMed:12586840}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12586840}.

Disease Associations

Branchiooculofacial syndrome (BOFS) [MIM:113620]: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. {ECO:0000269PubMed:18423521}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 55 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	55 [view]
Protein-Protein	45 [view]
Protein-DNA	9 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0000982	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0000987	core promoter proximal region sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003682	chromatin binding
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0042803	protein homodimerization activity
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046983	protein dimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001822	kidney development
GO:0003404	optic vesicle morphogenesis
GO:0003409	optic cup structural organization
GO:0006366	transcription from RNA polymerase II promoter
GO:0007605	sensory perception of sound
GO:0008285	negative regulation of cell proliferation
GO:0010628	positive regulation of gene expression
GO:0010842	retina layer formation
GO:0010944	negative regulation of transcription by competitive promoter binding
GO:0021559	trigeminal nerve development
GO:0021623	oculomotor nerve formation
GO:0030501	positive regulation of bone mineralization
GO:0035115	embryonic forelimb morphogenesis
GO:0042472	inner ear morphogenesis
GO:0043066	negative regulation of apoptotic process
GO:0043525	positive regulation of neuron apoptotic process
GO:0045595	regulation of cell differentiation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0060021	palate development
GO:0060349	bone morphogenesis
GO:0061029	eyelid development in camera-type eye
GO:0070172	positive regulation of tooth mineralization
GO:0071281	cellular response to iron ion
GO:2000378	negative regulation of reactive oxygen species metabolic process