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TFAP2A transcription factor AP-2 alpha [ Homo sapiens (human) ]

Gene ID: 7020, updated on 13-Jan-2019

Summary

Official Symbol
TFAP2Aprovided by HGNC
Official Full Name
transcription factor AP-2 alphaprovided by HGNC
Primary source
HGNC:HGNC:11742
See related
Ensembl:ENSG00000137203 MIM:107580
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]
Expression
Biased expression in skin (RPKM 17.3), placenta (RPKM 12.3) and 5 other tissues See more
Orthologs

Genomic context

See TFAP2A in Genome Data Viewer
Location:
6p24.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (10396677..10419897, 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 uncharacterized LOC105374921 Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene TFAP2A antisense RNA 2 Neighboring gene TFAP2A antisense RNA 1 Neighboring gene uncharacterized LOC107986564 Neighboring gene long intergenic non-protein coding RNA 518 Neighboring gene MIR5689 host gene Neighboring gene microRNA 5689

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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
Nef nef shRNA knockdown of TFAP2A (AP2) strongly impairs the capacity of Nef to downmodulate CD4 in primary CD4+ T cells and SupT1 T cells; Nef-mediated downmodulation of CD4 is enhanced by TFAP2A (AP2) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ51761

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding 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
bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to iron ion IDA
Inferred from Direct Assay
more info
PubMed 
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
 
eyelid development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
negative regulation of transcription by competitive promoter binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
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
 
positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
positive regulation of tooth mineralization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
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
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
retina layer formation IEP
Inferred from Expression Pattern
more info
PubMed 
roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
transcription factor AP-2-alpha
Names
AP-2 transcription factor
AP2-alpha
activating enhancer-binding protein 2-alpha
activator protein 2
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    9328..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 identical proteins and their annotated locations for 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
    Related
    ENSP00000368928.3, ENST00000379608.8
    Conserved Domains (1) summary
    pfam03299
    Location:205399
    TF_AP-2; Transcription factor AP-2
  2. NM_001042425.1NP_001035890.1  transcription factor AP-2-alpha isoform c

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000316516.4, ENST00000319516.8
    Conserved Domains (1) summary
    pfam03299
    Location:207401
    TF_AP-2; Transcription factor AP-2
  3. NM_003220.3NP_003211.1  transcription factor AP-2-alpha isoform a

    See identical proteins and their annotated locations for 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
    ENSP00000368933.3, ENST00000379613.8
    Conserved Domains (1) summary
    pfam03299
    Location:211405
    TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    10396677..10419897 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011232.1XP_016866721.1  transcription factor AP-2-alpha isoform X1

  2. XM_011514833.2XP_011513135.1  transcription factor AP-2-alpha isoform X3

    See identical proteins and their annotated locations for XP_011513135.1

    Conserved Domains (1) summary
    pfam03299
    Location:159359
    TF_AP-2; Transcription factor AP-2
  3. XM_006715175.2XP_006715238.1  transcription factor AP-2-alpha isoform X2

    Conserved Domains (1) summary
    pfam03299
    Location:254454
    TF_AP-2; Transcription factor AP-2
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