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

Gene ID: 7020, updated on 23-Oct-2014
Official Symbol
TFAP2Aprovided by HGNC
Official Full Name
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)provided by HGNC
Primary source
HGNC:HGNC:11742
Locus tag
RP1-290I10.1
See related
Ensembl:ENSG00000137203; HPRD:00128; MIM:107580; Vega:OTTHUMG00000014235
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AP-2; BOFS; AP2TF; TFAP2; AP-2alpha
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]
See TFAP2A in Epigenomics, MapViewer
Location:
6p24
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (10396677..10419564, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10393419..10419797, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 62 Neighboring gene ribosomal protein L7-like 1 pseudogene Neighboring gene TFAP2A antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 518 Neighboring gene microRNA 5689

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Branchiooculofacial syndrome
MedGen: C0376524 OMIM: 113620 GeneReviews: Branchiooculofacial Syndrome
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NHGRI GWAS Catalog

Description
A genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env c-FLIPL inhibits Bax activation via modulating PKC expression at the transcriptional level involving AP-2 during gp120 treatment PubMed

Go to the HIV-1, Human Interaction Database

  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Corticotropin-releasing hormone, organism-specific biosystem (from WikiPathways)
    Corticotropin-releasing hormone, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ51761

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity TAS
Traceable Author Statement
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding RNA polymerase II transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
anterior neuropore closure IEA
Inferred from Electronic Annotation
more info
 
basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to iron ion IDA
Inferred from Direct Assay
more info
 
cornea development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
embryonic body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic cranial skeleton morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic forelimb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic pattern specification IEA
Inferred from Electronic Annotation
more info
 
epidermis morphogenesis IEA
Inferred from Electronic Annotation
more info
 
eyelid development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
forebrain neuron development IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
 
keratinocyte development IEA
Inferred from Electronic Annotation
more info
 
kidney development IMP
Inferred from Mutant Phenotype
more info
 
lens induction in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
metanephric nephron development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
 
negative regulation of epidermal growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
 
negative regulation of transcription by competitive promoter binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by competitive promoter binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 
neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
oculomotor nerve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
optic cup structural organization ISS
Inferred from Sequence or Structural Similarity
more info
 
optic vesicle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
palate development IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
 
positive regulation of tooth mineralization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell differentiation IDA
Inferred from Direct Assay
more info
 
regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IEP
Inferred from Expression Pattern
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 
sympathetic nervous system development IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
trigeminal nerve development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016151.1 

    Range
    5001..27882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032280.2NP_001027451.1  transcription factor AP-2-alpha isoform b

    See proteins identical to NP_001027451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AL138885, BC017754, X52611
    Consensus CDS
    CCDS34337.1
    UniProtKB/Swiss-Prot
    P05549
    Conserved Domains (1) summary
    pfam03299
    Location:203408
    TF_AP-2; Transcription factor AP-2
  2. NM_001042425.1NP_001035890.1  transcription factor AP-2-alpha isoform c

    See proteins identical to NP_001035890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AL138885, CB990517, X52611
    Consensus CDS
    CCDS43422.1
    UniProtKB/Swiss-Prot
    P05549
    Conserved Domains (1) summary
    pfam03299
    Location:205410
    TF_AP-2; Transcription factor AP-2
  3. NM_003220.2NP_003211.1  transcription factor AP-2-alpha isoform a

    See proteins identical to NP_003211.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL138885, X52611
    Consensus CDS
    CCDS4510.1
    UniProtKB/Swiss-Prot
    P05549
    Related
    ENSP00000368924, ENST00000379604
    Conserved Domains (1) summary
    pfam03299
    Location:209414
    TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    10396677..10419564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715175.1XP_006715238.1  

    Conserved Domains (1) summary
    pfam03299
    Location:254459
    TF_AP-2; Transcription factor AP-2

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    10272671..10295552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    10399160..10422046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)