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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AP2A1
adaptor related protein complex 2 subunit alpha 1
Chromosome 19 · 19q13.33
NCBI Gene: 160Ensembl: ENSG00000196961.14HGNC: HGNC:561UniProt: O95782
284PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTransporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
low-density lipoprotein particle receptor bindingmembranenegative regulation of hyaluronan biosynthetic processAP-2 adaptor complexHIV infectiondengue diseaseneurodegenerative diseaseAlzheimer disease
✦AI Summary

AP2A1 encodes the alpha-1 subunit of adaptor protein complex 2 (AP-2), a key component of clathrin-mediated endocytosis. This protein functions as a cargo adaptor that facilitates the internalization of membrane receptors and proteins by recognizing specific endocytic motifs and linking them to clathrin-coated vesicles 1 2. AP2A1 plays critical roles in receptor trafficking, including IGF-1 receptor endocytosis in keratinocytes, where it works complementarily with flotillin to mediate clathrin-dependent internalization 1. The protein also facilitates EGFR trafficking in lung adenocarcinoma cells, enhancing receptor endocytosis and recycling to promote oncogenic signaling 2. Beyond its canonical endocytic function, AP2A1 has been implicated in cellular senescence regulation, where its upregulation in senescent cells helps maintain enlarged cell architecture through integrin β1-mediated focal adhesion strengthening 3. In disease contexts, AP2A1 shows isoform-specific associations with neurofibrillary tangles in Alzheimer's disease 4 and serves as a predictor of alcohol use disorder severity in orbitofrontal cortex proteome analyses 5. Additionally, AP2A1 contributes to autophagy-mediated tight junction regulation through CLDN2 degradation pathways 6 and facilitates TGF-β signaling in pancreatic cancer progression 7.

Sources cited
1
AP2A1 functions as cargo adaptor in clathrin-mediated endocytosis of IGF-1 receptor in keratinocytes
PMID: 32027876
2
AP2A1 facilitates EGFR trafficking and enhances endocytosis in lung adenocarcinoma cells
PMID: 40374748
3
AP2A1 is upregulated in senescent cells and helps maintain enlarged cell architecture through integrin β1 interactions
PMID: 39848456
4
AP2A1 shows isoform-specific association with neurofibrillary tangles in Alzheimer's disease
PMID: 34820873
5
AP2A1 expression in orbitofrontal cortex predicts alcohol use disorder occurrence and severity
PMID: 37679472
6
AP2A1 contributes to autophagy-induced CLDN2 degradation through clathrin-mediated endocytosis
PMID: 34964704
7
AP2A1 facilitates SMAD3 recruitment to early endosomes in TGF-β signaling pathway in pancreatic cancer
PMID: 37689715
Disease Associationsⓘ20
HIV infectionOpen Targets
0.55Moderate
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
Griscelli disease type 3Open Targets
0.05Suggestive
Griscelli syndrome type 3Open Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.05Suggestive
Griscelli syndrome type 1Open Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
oculocutaneous albinism type 3Open Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
MODYOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
hypotrichosis 8Open Targets
0.03Suggestive
isolated familial wooly hair disorderOpen Targets
0.03Suggestive
Woolly hairOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AP4M1Protein interaction100%AP4E1Protein interaction100%CLTCL1Protein interaction100%AP3M1Protein interaction100%AAK1Protein interaction99%DAB2Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Liver
80%
Lung
79%
Bone Marrow
73%
Brain
70%
Heart
47%
Gene Interaction Network
Click a node to explore
AP2A1AP4M1AP4E1CLTCL1AP3M1AAK1DAB2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95782
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.16–0.33]
RankingsWhere AP2A1 stands among ~20K protein-coding genes
  • #1,266of 20,598
    Most Researched284 · top 10%
  • #1,389of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedAP2A1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
AP2A1 modulates cell states between senescence and rejuvenation.
PMID: 39848456
Cell Signal · 2025
1.00
2
AP2M1 mediates autophagy-induced CLDN2 (claudin 2) degradation through endocytosis and interaction with LC3 and reduces intestinal epithelial tight junction permeability.
PMID: 34964704
Autophagy · 2022
0.90
3
Flotillin and AP2A1/2 Promote IGF-1 Receptor Association with Clathrin and Internalization in Primary Human Keratinocytes.
PMID: 32027876
J Invest Dermatol · 2020
0.80
4
circEIF3I facilitates the recruitment of SMAD3 to early endosomes to promote TGF-β signalling pathway-mediated activation of MMPs in pancreatic cancer.
PMID: 37689715
Mol Cancer · 2023
0.70
5
Molecular cloning of novel transcripts of the adaptor-related protein complex 2 alpha 1 subunit (AP2A1) gene, using Next-Generation Sequencing.
PMID: 30081190
Gene · 2018
0.64