Version 5.4
Homo sapiens Gene: TFAP2A
Summary
InnateDB Gene IDBG-60624.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TFAP2A
Gene Name transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Synonyms AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Species Homo sapiens
Ensembl Gene ENSG00000137203
Encoded Proteins
IDBP-60626
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-60628
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-60630
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-60632
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-474571
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-479723
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-480747
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-481264
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-482799
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-477639
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-483834
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
IDBP-476509
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:10393186-10419659
Strand Reverse strand
Band p24.3
Transcripts
ENST00000379613 ENSP00000368933
ENST00000379608 ENSP00000368928
ENST00000319516 ENSP00000316516
ENST00000379604 ENSP00000368924
ENST00000461628 ENSP00000417735
ENST00000489805 ENSP00000420568
ENST00000488193 ENSP00000419823
ENST00000482890 ENSP00000418541
ENST00000466073 ENSP00000417495
ENST00000497266
ENST00000475264 ENSP00000419696
ENST00000478375
ENST00000498450 ENSP00000419961
ENST00000490875
ENST00000473652
ENST00000474952
ENST00000462727
ENST00000464323
ENST00000465858 ENSP00000418391
ENST00000486038
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:0000977 RNA polymerase II 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:0000980 RNA polymerase II distal enhancer 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:0001105 RNA polymerase II transcription coactivator activity
GO:0001106 RNA polymerase II transcription corepressor activity
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
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:0001843 neural tube closure
GO:0002089 lens morphogenesis in camera-type eye
GO:0003151 outflow tract morphogenesis
GO:0003334 keratinocyte development
GO:0003404 optic vesicle morphogenesis
GO:0003409 optic cup structural organization
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0007423 sensory organ development
GO:0007605 sensory perception of sound
GO:0008285 negative regulation of cell proliferation
GO:0009880 embryonic pattern specification
GO:0010172 embryonic body morphogenesis
GO:0010628 positive regulation of gene expression
GO:0010842 retina layer formation
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0014032 neural crest cell development
GO:0021506 anterior neuropore closure
GO:0021559 trigeminal nerve development
GO:0021623 oculomotor nerve formation
GO:0021884 forebrain neuron development
GO:0030335 positive regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0035115 embryonic forelimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0042472 inner ear morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0043588 skin development
GO:0045595 regulation of cell differentiation
GO:0045664 regulation of neuron 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:0048485 sympathetic nervous system development
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048730 epidermis morphogenesis
GO:0060021 palate development
GO:0060235 lens induction in camera-type eye
GO:0060325 face morphogenesis
GO:0060349 bone morphogenesis
GO:0061029 eyelid development in camera-type eye
GO:0061303 cornea development in camera-type eye
GO:0070172 positive regulation of tooth mineralization
GO:0071281 cellular response to iron ion
GO:0071711 basement membrane organization
GO:0072210 metanephric nephron development
GO:2000378 negative regulation of reactive oxygen species metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021359
View Gene Order
ENSBTAG00000001250
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
caspase_pathway
Caspase Cascade in Apoptosis
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.519880 Hs.657734
RefSeq NM_001032280 NM_001042425 NM_003220 XM_006715175
HUGO
OMIM
CCDS CCDS34337 CCDS43422 CCDS4510
HPRD 00128
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca