AFTPH (Aftiphilin) Gene
Aftiphilin: A Vesicle Trafficking Protein with Emerging Roles in Cancer and Neurodevelopment
Gene Information Card
| Symbol | AFTPH |
|---|---|
| Full Name | Aftiphilin |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 54812 ncbi.nlm.nih.gov/gene/54812 |
| Ensembl ID | ENSG00000115947 |
| UniProt ID | Q6ULP2 |
| OMIM ID | 609526 |
| HGNC ID | 25938 |
| Aliases | AFTP, FLJ10718, dJ1181N3.1 |
Description
AFTPH (aftiphilin) encodes a protein involved in clathrin-mediated vesicle trafficking, particularly in the trans-Golgi network and endosomal compartments. It interacts with adaptor protein complexes (AP-1, AP-2) and is implicated in cargo sorting, neurite outgrowth, and synaptic vesicle recycling. Emerging evidence links AFTPH to cancer cell proliferation and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | AFTPH overexpression may promote tumor growth via altered vesicle trafficking and signaling. | COSMIC; TCGA data |
| Neurodevelopmental disorders | AFTPH variants may disrupt synaptic vesicle recycling, contributing to intellectual disability or autism spectrum disorder. | ClinVar; literature |
| Breast cancer | AFTPH amplification and high expression correlate with poor prognosis. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 11.8 | Neuronal model |
| MCF7 | 9.3 | Breast cancer cell line |
| A549 | 7.1 | Lung cancer cell line |
| HCT116 | 6.5 | Colon cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% | Unknown; predicted damaging |
| c.1423G>A (p.Val475Met) | Missense | 0.005% | Unknown; predicted benign |
| c.1882_1883insA (p.Thr628Asnfs*2) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely cause loss of function, potentially impairing vesicle trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • clathrin coat assembly | • vesicle-mediated transport |
| • protein transport | • Golgi to endosome transport |
| • synaptic vesicle recycling |
Pathways
• Clathrin-mediated endocytosis
• Trans-Golgi network vesicle budding
• AP-1 and AP-2 adaptor complex interactions
Protein Summary
Aftiphilin is a 1,200-amino-acid protein containing a conserved N-terminal domain and multiple coiled-coil regions. It localizes to the trans-Golgi network and endosomes, where it facilitates clathrin-coated vesicle formation. It binds directly to AP-1 and AP-2 adaptor complexes, and its depletion disrupts cargo sorting and neurite extension. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AFTPH Knockout HEK293 Cell Line | EDJ-KQ12301 | Human | 54812 | Details Get a Quote |
| AFTPH Knockout A-549 Cell Line | EDJ-KQ41119 | Human | 54812 | Details Get a Quote |
| AFTPH Knockout HCT 116 Cell Line | EDJ-KQ41120 | Human | 54812 | Details Get a Quote |
| AFTPH Knockout HeLa Cell Line | EDJ-KQ41121 | Human | 54812 | Details Get a Quote |
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