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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APPL2
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Chromosome 12 · 12q23.3
NCBI Gene: 55198Ensembl: ENSG00000136044.13HGNC: HGNC:18242UniProt: Q8NEU8
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of D-glucose import across plasma membranetransforming growth factor beta receptor signaling pathwayprotein homotetramerizationphosphatidylinositol bindingAbnormality of the skeletal systemosteomyelitisopen-angle glaucomainjury
✦AI Summary

APPL2 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2) is a multifunctional scaffolding protein that regulates diverse cellular processes through protein-protein interactions and membrane targeting. The protein contains BAR, PH, and PTB domains that enable oligomerization with APPL1, membrane binding, and phosphoinositide interactions 1. APPL2 functions as a dynamic scaffold on RAB5-associated endosomal membranes, where it undergoes movement, fusion, and fission events 1. In metabolic regulation, APPL2 acts as a negative regulator of adiponectin signaling by competitively inhibiting APPL1, contributing to adiponectin resistance in obesity 23. Conversely, in pancreatic β-cells, APPL2 enhances glucose-stimulated insulin secretion by promoting F-actin remodeling through interaction with RacGAP1, which suppresses its negative regulation of Rac1 activity 4. APPL2 also forms distinct signaling complexes with various receptors, including interactions with FSHR independently of APPL1, suggesting specialized scaffolding functions 5. Additionally, APPL2 expression is regulated by long non-coding RNAs and contributes to cell migration in pathological conditions such as rheumatoid arthritis 6. The protein's expression levels are also altered in breast cancer, where downregulation correlates with disease progression 7.

Sources cited
1
APPL2 contains BAR, PH, and PTB domains enabling oligomerization, membrane targeting, and phosphoinositide binding
PMID: 18034774
2
APPL2 negatively regulates adiponectin signaling through competitive inhibition of APPL1
PMID: 28585210
3
APPL2 blocks adiponectin signaling and contributes to adiponectin resistance
PMID: 39287861
4
APPL2 enhances glucose-stimulated insulin secretion via F-actin remodeling and Rac1 regulation
PMID: 33122440
5
APPL2 forms distinct signaling complexes with FSHR independently of APPL1
PMID: 17030088
6
APPL2 contributes to cell migration in rheumatoid arthritis fibroblast-like synoviocytes
PMID: 36458981
7
APPL2 expression is downregulated in breast cancer specimens
PMID: 30218350
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.50Moderate
osteomyelitisOpen Targets
0.27Weak
open-angle glaucomaOpen Targets
0.27Weak
injuryOpen Targets
0.27Weak
HypernatremiaOpen Targets
0.24Weak
neoplasmOpen Targets
0.08Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
abscessOpen Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
cellulitisOpen Targets
0.05Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SHANK3Protein interaction95%RABL2BProtein interaction90%RABL2AProtein interaction90%RAB22AProtein interaction79%APPL1Protein interaction52%ADIPOR2Shared pathway14%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
82%
Brain
73%
Heart
60%
Lung
54%
Liver
47%
Gene Interaction Network
Click a node to explore
APPL2SHANK3RABL2BRABL2ARAB22AAPPL1ADIPOR2
PROTEIN STRUCTURE
Preparing viewer…
PDB5C5B · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.74–1.07]
RankingsWhere APPL2 stands among ~20K protein-coding genes
  • #7,943of 20,598
    Most Researched57
  • #10,886of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedAPPL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Metagenome-genome-wide association studies reveal human genetic impact on the oral microbiome.
PMID: 34873157
Cell Discov · 2021
1.00
2
Adiponectin-Resistance in Obesity.
PMID: 28585210
Adv Exp Med Biol · 2017
0.90
3
Overexpressed in colorectal carcinoma gene (OCC-1) upregulation and APPL2 gene downregulation in breast cancer specimens.
PMID: 30218350
Mol Biol Rep · 2018
0.80
4
Adiponectin Resistance in Obesity: Adiponectin Leptin/Insulin Interaction.
PMID: 39287861
Adv Exp Med Biol · 2024
0.70
5
Membrane targeting by APPL1 and APPL2: dynamic scaffolds that oligomerize and bind phosphoinositides.
PMID: 18034774
Traffic · 2008
0.60