Tfap2b transcription factor AP-2 beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tfap2bprovided by MGI
Official Full Name: transcription factor AP-2 betaprovided by MGI
Primary source: MGI:MGI:104672
See related: Ensembl:ENSMUSG00000025927 AllianceGenome:MGI:104672
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tcfap2b; AP2-beta; AP-2(beta); E130018K07Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including artery morphogenesis; inorganic ion homeostasis; and limb morphogenesis. Acts upstream of with a negative effect on negative regulation of apoptotic process. Acts upstream of or within several processes, including animal organ development; fat cell differentiation; and sympathetic nervous system development. Predicted to be active in nucleus. Is expressed in several structures, including genital tubercle; jaw; metanephros; nervous system; and sensory organ. Used to study Char syndrome; angle-closure glaucoma; and patent ductus arteriosus. Human ortholog(s) of this gene implicated in Char syndrome and patent ductus arteriosus. Orthologous to human TFAP2B (transcription factor AP-2 beta). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in whole brain E14.5 (RPKM 12.0), CNS E14 (RPKM 10.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A3; 1 6.19 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (19279132..19309071)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (19208908..19238845)

Chromosome 1 - NC_000067.7 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?

Crucial role of TFAP2B in the nervous system for regulating NREM sleep.
Title: Crucial role of TFAP2B in the nervous system for regulating NREM sleep.
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.
Tfap2b acts in GABAergic neurons to control sleep in mice.
Title: Tfap2b acts in GABAergic neurons to control sleep in mice.
Deletion of transcription factor AP-2beta from the developing murine trabecular meshwork region leads to progressive glaucomatous changes.
Title: Deletion of transcription factor AP-2β from the developing murine trabecular meshwork region leads to progressive glaucomatous changes.
Conditional Deletion of AP-2beta in the Periocular Mesenchyme of Mice Alters Corneal Epithelial Cell Fate and Stratification.
Title: Conditional Deletion of AP-2β in the Periocular Mesenchyme of Mice Alters Corneal Epithelial Cell Fate and Stratification.
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.
Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2beta.
Title: Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2β.
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.
In an ongoing expression screen, this study identified that Tfap2b, Casq2, Penk, Zic1, and Zic3 are expressed in unique cell types in and around the developing eye.
Title: Localization of Tfap2β, Casq2, Penk, Zic1, and Zic3 Expression in the Developing Retina, Muscle, and Sclera of the Embryonic Mouse Eye.
Using the Tfap2b c.435_438delCCGG homozygous mice, study verified the nature of the human c.435_438delCCGG mutation and established a new and useful animal model to explore the function of Tfap2b and the mechanisms of patent ductus arteriosus and renal formation.
Title: Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (2) 1 citation

General gene information

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Markers

AI606113 (e-PCR)
- UniSTS:164108

Tcfap2b (e-PCR), detects polymorphism
- UniSTS:507437

Tcfap2b (e-PCR), detects polymorphism
- UniSTS:497492

Tcfap2b (e-PCR), detects polymorphism
- UniSTS:526947

Tcfap2b (e-PCR), detects polymorphism
- UniSTS:144564

Tcfap2b (e-PCR), detects polymorphism
- UniSTS:259253

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor 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 chromatin binding	ISO Inferred from Sequence Orthology more info
enables cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
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

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collecting duct development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in distal tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ductus arteriosus closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	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
acts_upstream_of_negative_effect negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron apoptotic process	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
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
involved_in regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory organ development	IEP Inferred from Expression Pattern more info	PubMed
involved_in skin development	IEP Inferred from Expression Pattern more info	PubMed
involved_in smooth muscle tissue development	IMP Inferred from Mutant Phenotype 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

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: transcription factor AP-2-beta

Names: activating enhancer-binding protein 2 beta

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_001025305.3 → NP_001020476.1 transcription factor AP-2-beta isoform 2

See identical proteins and their annotated locations for NP_001020476.1

Status: VALIDATED

Source sequence(s)

AC132356

Consensus CDS

CCDS14840.1

UniProtKB/TrEMBL

E9Q5N4, Q8CCV4

Related

ENSMUSP00000064488.5, ENSMUST00000064976.6

Conserved Domains (1) summary

pfam03299
Location:212 → 406

TF_AP-2; Transcription factor AP-2
NM_001286340.2 → NP_001273269.1 transcription factor AP-2-beta isoform 3

See identical proteins and their annotated locations for NP_001273269.1

Status: VALIDATED

Source sequence(s)

AC132356

Consensus CDS

CCDS78553.1

UniProtKB/TrEMBL

Q8CCV4, Q8CE69

Related

ENSMUSP00000140213.2, ENSMUST00000187754.7

Conserved Domains (1) summary

pfam03299
Location:230 → 424

TF_AP-2; Transcription factor AP-2
NM_009334.4 → NP_033360.2 transcription factor AP-2-beta isoform 1

See identical proteins and their annotated locations for NP_033360.2

Status: VALIDATED

Source sequence(s)

AC132356

Consensus CDS

CCDS14839.1

UniProtKB/Swiss-Prot

Q61313, Q8CEP1

UniProtKB/TrEMBL

Q8CCV4

Related

ENSMUSP00000027059.5, ENSMUST00000027059.11

Conserved Domains (1) summary

pfam03299
Location:230 → 424

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_000067.7 Reference GRCm39 C57BL/6J

Range

19279132..19309071

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252835.2 → XP_030108695.1 transcription factor AP-2-beta isoform X3

UniProtKB/TrEMBL

Q8CCV4

Conserved Domains (1) summary

pfam03299
Location:230 → 424

TF_AP-2; Transcription factor AP-2
XM_006495494.5 → XP_006495557.1 transcription factor AP-2-beta isoform X2

UniProtKB/TrEMBL

Q8CCV4

Conserved Domains (1) summary

pfam03299
Location:239 → 433

TF_AP-2; Transcription factor AP-2
XM_006495491.5 → XP_006495554.1 transcription factor AP-2-beta isoform X1

UniProtKB/TrEMBL

Q8CCV4

Conserved Domains (1) summary

pfam03299
Location:239 → 433

TF_AP-2; Transcription factor AP-2
XM_030252837.1 → XP_030108697.1 transcription factor AP-2-beta isoform X4

UniProtKB/TrEMBL

Q8CCV4

Conserved Domains (1) summary

pfam03299
Location:212 → 406

TF_AP-2; Transcription factor AP-2
XM_006495495.3 → XP_006495558.1 transcription factor AP-2-beta isoform X4

UniProtKB/TrEMBL

Q8CCV4

Conserved Domains (1) summary

pfam03299
Location:212 → 406

TF_AP-2; Transcription factor AP-2