WIPI2
WD Repeat Domain, Phosphoinositide Interacting 2
Gene Information Card
| Symbol | WIPI2 |
|---|---|
| Full Name | WD Repeat Domain, Phosphoinositide Interacting 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 26100 ncbi.nlm.nih.gov/gene/26100 |
| Ensembl ID | ENSG00000157954 |
| UniProt ID | Q9Y4P8 |
| OMIM ID | 609225 |
| HGNC ID | 30925 |
| Aliases | ATG18B, CGI-50, WIPI-2, WIPI49 |
Description
WIPI2 (WD Repeat Domain, Phosphoinositide Interacting 2) is a protein-coding gene that encodes a member of the WD40 repeat protein family. The protein is a key component of the autophagy pathway, specifically acting as a phosphatidylinositol 3-phosphate (PtdIns3P) effector that recruits the ATG12-ATG5-ATG16L1 complex to autophagosomal membranes, thereby promoting autophagosome formation. WIPI2 is essential for starvation-induced autophagy and is implicated in various cellular processes including vesicle trafficking and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder | Altered autophagy and synaptic pruning | ClinVar: pathogenic variants reported |
| Breast Cancer | Dysregulated autophagy promoting tumor survival | COSMIC: somatic mutations observed |
| Colorectal Cancer | Loss of WIPI2 expression linked to impaired autophagy | COSMIC: somatic mutations observed |
| Neurodegenerative Disorders (e.g., Alzheimer's) | Defective autophagy and protein aggregation | Literature evidence (PMID: 25684238) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Lung | 9.7 | Low |
| Skeletal Muscle | 6.4 | Low |
| Testis | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| MCF7 | 9.2 | Breast cancer cell line |
| HCT116 | 13.5 | Colorectal carcinoma cell line |
| SH-SY5Y | 16.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.499C>T (p.Arg167Trp) | Missense | Rare | Reduced PtdIns3P binding and autophagy impairment (ClinVar) |
| c.1042G>A (p.Glu348Lys) | Missense | Rare | Potential loss of function (ClinVar) |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Very rare | Predicted loss of function (ClinVar) |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that impair PtdIns3P binding or protein stability, leading to defective autophagy.
Gain of Function (GOF)
Not reported for WIPI2.
Dominant Negative (DN)
Not reported for WIPI2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Autophagy (KEGG: hsa04140)
• PtdIns3P signaling in autophagy (Reactome: R-HSA-1632852)
Protein Summary
WIPI2 is a 452-amino acid protein containing seven WD40 repeats that form a beta-propeller structure. It localizes to the phagophore assembly site (PAS) and binds phosphatidylinositol 3-phosphate (PtdIns3P) via its conserved FRRG motif. This interaction recruits the ATG12-ATG5-ATG16L1 complex, which is essential for LC3 lipidation and autophagosome elongation. WIPI2 is ubiquitously expressed and plays a critical role in selective autophagy, including mitophagy and xenophagy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WIPI2 Knockout HEK293 Cell Line | EDJ-KQ8412 | Human | 26100 | Details Get a Quote |
| WIPI2 Knockout A-549 Cell Line | EDJ-KQ33154 | Human | 26100 | Details Get a Quote |
| WIPI2 Knockout HCT 116 Cell Line | EDJ-KQ34488 | Human | 26100 | Details Get a Quote |
| WIPI2 Knockout HeLa Cell Line | EDJ-KQ34489 | Human | 26100 | Details Get a Quote |
