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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TFAP2D
transcription factor AP-2 delta
Chromosome 6 · 6p12.3
NCBI Gene: 83741Ensembl: ENSG00000008197.5HGNC: HGNC:15581UniProt: Q7Z6R9
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription activator activity, RNA polymerase II-specificRNA polymerase II transcription regulatory region sequence-specific DNA bindingAbnormality of the skeletal systemattention deficit hyperactivity disorderobesityurolithiasis
✦AI Summary

TFAP2D (transcription factor AP-2 delta) is a sequence-specific DNA-binding transcription factor that regulates gene expression by binding to consensus sequences and activating or suppressing target genes involved in critical developmental and cellular processes 1. As a member of the AP-2 family, TFAP2D functions primarily as a positive regulator of RNA polymerase II-mediated transcription 2. Mechanistically, TFAP2D plays a pivotal role in nervous system development, particularly in specifying excitatory neurons of the basolateral amygdala complex, claustrum, and piriform cortex 2. Its expression is conserved across species, including humans, in developing brain regions that form reciprocal connections with the prefrontal cortex 2. TFAP2D dosage critically influences developmental trajectories, affecting basolateral amygdala size and connectivity in a dose-dependent manner 2. Beyond neurodevelopment, TFAP2D is implicated in epigenetic aging processes conserved between mammals and amphibians, with age-related methylation changes occurring in tfap2d 3. Clinically, TFAP2D upregulation associates with aggressive prostate cancer phenotypes, particularly in ERG-negative tumors, correlating with advanced staging, high Gleason grade, and genomic instability 4. Additionally, TFAP2D variants show associations with elite strength athlete status as part of polygenic strength profiles 5. A polymorphic Alu element flanking TFAP2D distinguishes humans from other primates, potentially affecting gene regulation 6. Disrupted TFAP2D-regulated networks contribute to fertilization failure phenotypes 7.

Sources cited
1
TFAP2D has pivotal role in development, identity and PFC connectivity of claustro-amygdalar and palaeocortical excitatory neurons; dosage-dependent effects on basolateral amygdala size and connectivity
PMID: 39814878
2
TFAP2D is member of TFAP2 family vital for regulating embryonic and oncogenic development through transcriptional regulation
PMID: 37291585
3
TFAP2D upregulation associates with aggressive prostate cancer phenotype, advanced tumor stage, high Gleason grade, lymph node metastasis, and genomic instability in ERG-negative cancers
PMID: 32143573
4
TFAP2D is conserved as age-related CpG in neural-developmental genes involved in epigenetic aging between frogs and mammals
PMID: 37270437
5
TFAP2D identified as key transcription factor in calcium signaling pathways essential for oocyte activation and fertilization through gene regulatory network analysis
PMID: 41188932
6
TFAP2D polymorphism associated with strength athlete status as part of polygenic strength profile
PMID: 33278272
7
Polymorphic Alu element flanks TFAP2D gene, human-specific and may affect gene regulation
PMID: 30975199
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
attention deficit hyperactivity disorderOpen Targets
0.39Weak
obesityOpen Targets
0.39Weak
urolithiasisOpen Targets
0.37Weak
preeclampsiaOpen Targets
0.33Weak
restless legs syndromeOpen Targets
0.32Weak
overnutritionOpen Targets
0.32Weak
intelligenceOpen Targets
0.25Weak
autism spectrum disorderOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.22Weak
refractive errorOpen Targets
0.21Weak
response to xenobiotic stimulusOpen Targets
0.20Weak
poisoningOpen Targets
0.19Weak
ventricular fibrillationOpen Targets
0.11Weak
Abnormal male internal genitalia morphologyOpen Targets
0.10Weak
ProptosisOpen Targets
0.10Suggestive
lymphoplasmacytic lymphomaOpen Targets
0.09Suggestive
Waldenstrom macroglobulinemiaOpen Targets
0.09Suggestive
glaucomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TFAP2EShared pathway100%BRICD5Shared pathway100%GKN2Shared pathway100%CDCA7Shared pathway100%TFAP2AProtein interaction84%TFAP2BProtein interaction80%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
TFAP2DTFAP2EBRICD5GKN2CDCA7TFAP2ATFAP2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z6R9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.13–0.39]
RankingsWhere TFAP2D stands among ~20K protein-coding genes
  • #14,837of 20,598
    Most Researched18
  • #1,900of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedTFAP2D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Specification of claustro-amygdalar and palaeocortical neurons and circuits.
PMID: 39814878
Nature · 2025
1.00
2
Crucial role of the transcription factors family activator protein 2 in cancer: current clue and views.
PMID: 37291585
J Transl Med · 2023
0.90
3
Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.
PMID: 41188932
J Transl Med · 2025
0.80
4
Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion.
PMID: 32143573
Mol Med · 2020
0.70
5
DNA methylation clocks for clawed frogs reveal evolutionary conservation of epigenetic aging.
PMID: 37270437
Geroscience · 2024
0.60