Tfap2d transcription factor AP-2, delta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tfap2dprovided by MGI
Official Full Name: transcription factor AP-2, deltaprovided by MGI
Primary source: MGI:MGI:2153466
See related: Ensembl:ENSMUSG00000042596 AllianceGenome:MGI:2153466
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: Tcfap2d
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within inferior colliculus development; negative regulation of neuron apoptotic process; and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex. Is expressed in several structures, including brain; ganglia; genitourinary system; heart; and retina. Orthologous to human TFAP2D (transcription factor AP-2 delta). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 3.9), CNS E18 (RPKM 3.2) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A3; 1 6.08 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (19173246..19244172)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (19103022..19173948)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

The embryonic patterning gene Dbx1 governs the survival of the auditory midbrain via Tcf7l2-Ap2delta transcriptional cascade.
Title: The embryonic patterning gene Dbx1 governs the survival of the auditory midbrain via Tcf7l2-Ap2δ transcriptional cascade.
Oxidative stress inhibits the expression of Prestin protein, and the transcription mechanism is triggered to compensate for the loss of Prestin protein in HEI-OC1 cells. AP-2delta is one of the important TFs that suppresses transcription of the Prestin gene, and AP-2delta suppression further boosted Prestin mRNA activation under oxidative stress.
Title: The effect of AP-2δ on transcription of the Prestin gene in HEI-OC1 cells upon oxidative stress.
AP-2delta is important for the maintenance of ganglion cell numbers in the retina.
Title: Loss of AP-2delta reduces retinal ganglion cell numbers and axonal projections to the superior colliculus.
Data show that Ap-2delta occupies and activates the Pou4f3 and Bhlhb4 promoters.
Title: AP-2δ is a crucial transcriptional regulator of the posterior midbrain.
Several candidate targets of complexes containing Ap2delta and Ash2l were identified that can be used to further elucidate their roles during development and showed that Fgfr3 is a novel direct target of these complexes.
Title: Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes.
Ap2delta associates with ASH2L and MLL2 (ALR), forming a complex that methylates lysine 4 of histone H3.
Title: Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tcfap2d (e-PCR), detects polymorphism
- UniSTS:497489

NoName (e-PCR)
- UniSTS:481145

NoName (e-PCR)
- UniSTS:482175

Tcfap2d (e-PCR), detects polymorphism
- UniSTS:531385

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator 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	IMP Inferred from Mutant Phenotype more info	PubMed
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within inferior colliculus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor 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 regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
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	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: transcription factor AP-2-delta

Names: AP2-delta; activating enhancer-binding protein 2-delta

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_001379073.1 → NP_001366002.1 transcription factor AP-2-delta isoform 2

Status: VALIDATED

Source sequence(s)

AC098736

Conserved Domains (1) summary

pfam03299
Location:215 → 409

TF_AP-2; Transcription factor AP-2
NM_001379074.1 → NP_001366003.1 transcription factor AP-2-delta isoform 3

Status: VALIDATED

Source sequence(s)

AC098736

Conserved Domains (1) summary

pfam03299
Location:187 → 381

TF_AP-2; Transcription factor AP-2
NM_153154.3 → NP_694794.1 transcription factor AP-2-delta isoform 1

See identical proteins and their annotated locations for NP_694794.1

Status: VALIDATED

Source sequence(s)

AC098736, AF421891, BB676311, CO424726

Consensus CDS

CCDS14838.1

UniProtKB/Swiss-Prot

A7MCU6, Q91ZK0

Related

ENSMUSP00000037699.8, ENSMUST00000037294.8

Conserved Domains (1) summary

pfam03299
Location:211 → 405

TF_AP-2; Transcription factor AP-2