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

Gene ID: 7020, updated on 21-Sep-2022

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; AllianceGenome:HGNC:11742
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
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Genomic context

See TFAP2A in Genome Data Viewer
Location:
6p24.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10396677..10419659, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10264407..10287386, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10396910..10419892, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene uncharacterized LOC124901485 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: CN120488 GeneReviews: Not available
Compare labs
Branchiooculofacial syndrome
MedGen: C0376524 OMIM: 113620 GeneReviews: Branchiooculofacial Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog

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 PubChem

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
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables nuclear receptor corepressor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to iron ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in embryonic cranial skeleton morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic forelimb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in eyelid development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by competitive promoter binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in oculomotor nerve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in optic cup structural organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in optic vesicle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of tooth mineralization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retina layer formation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in trigeminal nerve development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    9491..27888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032280.3NP_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, ENST00000379608.9
    Conserved Domains (1) summary
    pfam03299
    Location:205399
    TF_AP-2; Transcription factor AP-2
  2. NM_001042425.3NP_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_001372066.1NP_001358995.1  transcription factor AP-2-alpha isoform a

    Status: REVIEWED

    Source sequence(s)
    AL138885, BM714893, X52611
    Consensus CDS
    CCDS4510.1
    UniProtKB/TrEMBL
    A0A6E1XE14
    Related
    ENSP00000368933.5, ENST00000379613.10
    Conserved Domains (1) summary
    pfam03299
    Location:213407
    TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    10396677..10419659 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10264407..10287386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003220.3: Suppressed sequence

    Description
    NM_003220.3: This RefSeq was removed because currently there is support for the transcript but not for the protein