APPL2 Gene
Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 2
Gene Information Card
| Symbol | APPL2 |
|---|---|
| Full Name | Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 55198 ncbi.nlm.nih.gov/gene/55198 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8NEU8 |
| OMIM ID | 606231 |
| HGNC ID | 24038 |
| Aliases | DIP13B, APPL, APPL2 |
Description
APPL2 encodes an adaptor protein that contains an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain. It functions in endosomal signaling, cell proliferation, and adiponectin receptor signaling. APPL2 is involved in insulin sensitivity and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Impaired adiponectin signaling via APPL2 leads to insulin resistance | PMID: 19506073 |
| Type 2 Diabetes | APPL2 modulates GLUT4 translocation and glucose uptake | PMID: 20074530 |
| Cancer (breast) | APPL2 overexpression promotes cell migration and invasion | PMID: 25605247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Skeletal muscle | 15.2 | Medium |
| Heart | 10.1 | Medium |
| Brain | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | High expression |
| HEK293 | 14.2 | Medium expression |
| HepG2 | 11.0 | Medium expression |
| MCF7 | 20.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | missense | 0.001 | Altered PTB domain binding |
| c.789_790insA (p.Glu264Argfs*12) | frameshift | <0.001 | Loss of function |
| c.1567G>A (p.Val523Met) | missense | 0.002 | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons reduce protein levels.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • endosome (GO:0005768) | • lipid binding (GO:0008289) |
| • protein kinase binding (GO:0019901) | • phosphatidylinositol binding (GO:0035091) |
Pathways
• Adiponectin signaling pathway
• Insulin signaling pathway
• Endosomal trafficking
Protein Summary
APPL2 is a 669-amino acid adaptor protein with a BAR domain, PH domain, and PTB domain. It localizes to endosomes and the plasma membrane, mediating signal transduction from receptors such as adiponectin receptor and growth factor receptors. APPL2 regulates cell proliferation, glucose uptake, and lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APPL2 Knockout HEK293 Cell Line | EDJ-KQ12397 | Human | 55198 | Details Get a Quote |
| APPL2 Knockout A-549 Cell Line | EDJ-KQ41281 | Human | 55198 | Details Get a Quote |
| APPL2 Knockout HCT 116 Cell Line | EDJ-KQ41282 | Human | 55198 | Details Get a Quote |
| APPL2 Knockout HeLa Cell Line | EDJ-KQ41283 | Human | 55198 | Details Get a Quote |
