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

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: human all
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Genomic context

Location:: 13 A3.3; 13 20.01 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.
Title: TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.
Overexpression of Tfap2a in Mouse Oocytes Impaired Spindle and Chromosome Organization.
Title: Overexpression of Tfap2a in Mouse Oocytes Impaired Spindle and Chromosome Organization.
The Ap-2alpha/Elk-1 axis regulates Sirpalpha-dependent tumor phagocytosis by tumor-associated macrophages in colorectal cancer.
Title: The Ap-2α/Elk-1 axis regulates Sirpα-dependent tumor phagocytosis by tumor-associated macrophages in colorectal cancer.
Functional Divergence of Mammalian TFAP2a and TFAP2b Transcription Factors for Bidirectional Sleep Control.
Title: Functional Divergence of Mammalian TFAP2a and TFAP2b Transcription Factors for Bidirectional Sleep Control.
Anomalous incisor morphology indicates tissue-specific roles for Tfap2a and Tfap2b in tooth development.
Title: Anomalous incisor morphology indicates tissue-specific roles for Tfap2a and Tfap2b in tooth development.
KCTD1 promotes adipogenesis through the interaction with transcription factor AP2 alpha and by removing it from the nucleus.
Title: KCTD1: A novel modulator of adipogenesis through the interaction with the transcription factor AP2α.
these data suggest that the Tfap2a-Irf6-Grhl3 genetic pathway is shared by two embryologically distinct morphogenetic events that previously were considered independent during mammalian development
Title: The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
AMPKalpha/AP-2alpha/miR-124/P4Halpha1 axis plays a crucial role in the regulation of collagen synthesis in advanced atherosclerotic lesions. Targeting AMPKalpha/AP-2alpha/miRNA-124/P4Halpha1 signaling should be considered to increase the plaque stability in patients with atherosclerosis.
Title: AMPKα inactivation destabilizes atherosclerotic plaque in streptozotocin-induced diabetic mice through AP-2α/miRNA-124 axis.
Together these findings demonstrate the requirement for both AP-2alpha and AP-2beta in proper amacrine mosaic patterning and a normal functional light response in the retina.
Title: Conditional Deletion of AP-2α and AP-2β in the Developing Murine Retina Leads to Altered Amacrine Cell Mosaics and Disrupted Visual Function.
AP2gamma is present in a sub-population of hippocampal transient amplifying progenitors. There, it is found to act as a positive regulator of the cell fate determinants Tbr2 and NeuroD, promoting proliferation and differentiation of new glutamatergic granular neurons. Conditional ablation of AP2gamma in adult brain reduced hippocampal neurogenesis and disrupted coherence between ventral hippocampus and medial prefronta...
Title: AP2γ controls adult hippocampal neurogenesis and modulates cognitive, but not anxiety or depressive-like behavior.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Variation

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Alleles

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

Targeted (8) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:516104

Tfap2a (e-PCR), detects polymorphism
- UniSTS:547922

Tfap2a (e-PCR), detects polymorphism
- UniSTS:547923

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:497491

Tfap2a (e-PCR), detects polymorphism
- UniSTS:547924

NoName (e-PCR)
- UniSTS:548227

NoName (e-PCR)
- UniSTS:548228

NoName (e-PCR)
- UniSTS:548229

NoName (e-PCR)
- UniSTS:548230

TFAP2A (e-PCR), detects polymorphism
- UniSTS:279688

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144557

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144558

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144559

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259247

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144560

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259248

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144561

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259249

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144562

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259250

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144563

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259251

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259252

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:536554

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:532464

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
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
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
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
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
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 nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: transcription factor AP-2-alpha

Names: activating enhancer-binding protein 2 alpha; activator protein 2

NCBI Reference Sequences (RefSeq)

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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)

NM_001122948.2 → NP_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

A0A0R4J1E6, Q8BPN4

Related

ENSMUSP00000021787.5, ENSMUST00000021787.7

Conserved Domains (1) summary

pfam03299
Location:205 → 399

TF_AP-2; Transcription factor AP-2
NM_001301674.2 → NP_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

A0A0R4J1E6, A0A286YDR3

Related

ENSMUSP00000153522.2, ENSMUST00000224999.2

Conserved Domains (1) summary

pfam03299
Location:213 → 407

TF_AP-2; Transcription factor AP-2
NM_011547.5 → NP_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

A0A0R4J1E6, A0A286YDR3

Related

ENSMUSP00000105822.3, ENSMUST00000110193.9

Conserved Domains (1) summary

pfam03299
Location:213 → 407

TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

40867278..40891715 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_006516965.1

UniProtKB/TrEMBL

A0A0R4J1E6, A0A286YCU0

Related

ENSMUSP00000153149.2, ENSMUST00000223869.2

Conserved Domains (1) summary

pfam03299
Location:207 → 401

TF_AP-2; Transcription factor AP-2
XM_006516903.5 → XP_006516966.1 transcription factor AP-2-alpha isoform X4

UniProtKB/TrEMBL

A0A0R4J1E6

Conserved Domains (1) summary

pfam03299
Location:197 → 391

TF_AP-2; Transcription factor AP-2
XM_017315479.3 → XP_017170968.1 transcription factor AP-2-alpha isoform X2

UniProtKB/TrEMBL

A0A0R4J1E6, A0A286YD43

Related

ENSMUSP00000153271.2, ENSMUST00000225180.2

Conserved Domains (1) summary

pfam03299
Location:240 → 434

TF_AP-2; Transcription factor AP-2
XM_030247224.1 → XP_030103084.1 transcription factor AP-2-alpha isoform X1

UniProtKB/TrEMBL

A0A0R4J1E6

Conserved Domains (1) summary

pfam03299
Location:256 → 450

TF_AP-2; Transcription factor AP-2