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Tfap2a transcription factor AP-2, alpha [ Mus musculus (house mouse) ]

Gene ID: 21418, updated on 10-Jan-2023

Summary

Official Symbol
Tfap2aprovided by MGI
Official Full Name
transcription factor AP-2, alphaprovided by MGI
Primary source
MGI:MGI:104671
See related
Ensembl:ENSMUSG00000021359 AllianceGenome:MGI:104671
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ap2; AP-2; Ap2tf; Tcfap2a; AP2alpha; Ap-2 (a)
Summary
This gene is a member of the activator protein 2 (AP-2) transcription factor family. The protein encoded by this gene can act as both an activator and repressor of gene transcription, and plays an important role in early embryogenesis, specifically in cranial development. This protein forms both homodimers and heterodimers, and binds to a GC-rich consensus sequence found in some promoters and enhancers. Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
Expression
Biased expression in limb E14.5 (RPKM 4.2), genital fat pad adult (RPKM 2.4) and 11 other tissues See more
Orthologs
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Genomic context

See Tfap2a in Genome Data Viewer
Location:
13 A3.3; 13 20.01 cM
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (40867278..40891715, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (40713802..40738238, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene REX4, RNA exonuclease 4 homolog pseudogene Neighboring gene 40S ribosomal protein S10 pseudogene Neighboring gene predicted gene, 26688 Neighboring gene UBX domain protein 2A pseudogene Neighboring gene oogenesin 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity 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 ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables nuclear receptor corepressor activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables sequence-specific double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription corepressor activity 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 
acts_upstream_of_or_within anterior neuropore closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within basement membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to iron ion ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cornea development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic body morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic camera-type eye morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within epidermis morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in eyelid development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of fibroblast migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within forebrain neuron development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inner ear morphogenesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within keratinocyte development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in kidney development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lens induction in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lens morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in metanephric nephron development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of reactive oxygen species metabolic process ISO
Inferred from Sequence Orthology
more info
 
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 RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transcription by competitive promoter binding ISO
Inferred from Sequence Orthology
more info
 
involved_in nervous system development IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within neural crest cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neural tube closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of neuron apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in oculomotor nerve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in optic cup structural organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in optic vesicle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of bone mineralization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of fibroblast migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of tooth mineralization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II 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 positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to lipopolysaccharide ISO
Inferred from Sequence Orthology
more info
 
involved_in roof of mouth development ISO
Inferred from Sequence Orthology
more info
 
involved_in sensory organ development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in sensory perception of sound ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skin development IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within skin development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within sympathetic nervous system development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in trigeminal nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in clathrin-coated pit IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001122948.2NP_001116420.1  transcription factor AP-2-alpha isoform 3

    See identical proteins and their annotated locations for NP_001116420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1a. The encoded isoform (3, PMID: 7750631) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC123834, AK053704, AK081627, AV233420, BB543575
    Consensus CDS
    CCDS49243.1
    UniProtKB/TrEMBL
    A0A6P5QPG8, A0A8C6GBP3, Q8BPN4
    Related
    ENSMUSP00000021787.5, ENSMUST00000021787.7
    Conserved Domains (1) summary
    pfam03299
    Location:205399
    TF_AP-2; Transcription factor AP-2
  2. NM_001301674.2NP_001288603.2  transcription factor AP-2-alpha isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1b) differs in the 5' UTR compared to variant 1a. Both variants 1a and 1b encode the same isoform (1).
    Source sequence(s)
    AC123834, AK053704, AK081627, BC007471, BC018226
    Consensus CDS
    CCDS26467.1
    UniProtKB/TrEMBL
    A0A286YDR3, A0A6P5QYT8, A0A8C6MQE9
    Related
    ENSMUSP00000153522.2, ENSMUST00000224999.2
    Conserved Domains (1) summary
    pfam03299
    Location:213407
    TF_AP-2; Transcription factor AP-2
  3. NM_011547.5NP_035677.3  transcription factor AP-2-alpha isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1a) represents the shortest transcript and encodes the longer isoform (1, PMID: 7750631). Both variants 1a and 1b encode the same isoform (1).
    Source sequence(s)
    AC123834, AK140956, BC007471
    Consensus CDS
    CCDS26467.1
    UniProtKB/TrEMBL
    A0A286YDR3, A0A6P5QYT8, A0A8C6MQE9
    Related
    ENSMUSP00000105822.3, ENSMUST00000110193.9
    Conserved Domains (1) summary
    pfam03299
    Location:213407
    TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    40867278..40891715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006516902.5XP_006516965.1  transcription factor AP-2-alpha isoform X3

    See identical proteins and their annotated locations for XP_006516965.1

    UniProtKB/TrEMBL
    A0A286YCU0, A0A6P5QW94, A0A8C6GCG3
    Related
    ENSMUSP00000153149.2, ENSMUST00000223869.2
    Conserved Domains (1) summary
    pfam03299
    Location:207401
    TF_AP-2; Transcription factor AP-2
  2. XM_006516903.5XP_006516966.1  transcription factor AP-2-alpha isoform X4

    Conserved Domains (1) summary
    pfam03299
    Location:197391
    TF_AP-2; Transcription factor AP-2
  3. XM_017315479.3XP_017170968.1  transcription factor AP-2-alpha isoform X2

    UniProtKB/TrEMBL
    A0A286YD43
    Related
    ENSMUSP00000153271.2, ENSMUST00000225180.2
    Conserved Domains (1) summary
    pfam03299
    Location:240434
    TF_AP-2; Transcription factor AP-2
  4. XM_030247224.1XP_030103084.1  transcription factor AP-2-alpha isoform X1

    Conserved Domains (1) summary
    pfam03299
    Location:256450
    TF_AP-2; Transcription factor AP-2