WDFY2
WD Repeat and FYVE Domain Containing 2
Gene Information Card
| Symbol | WDFY2 |
|---|---|
| Full Name | WD Repeat and FYVE Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 115825 ncbi.nlm.nih.gov/gene/115825 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q96P53 |
| OMIM ID | 617511 |
| HGNC ID | 20484 |
| Aliases | KIAA1160, FLJ12606, PRO1866 |
Description
WDFY2 encodes a protein containing WD40 repeats and a FYVE zinc finger domain. The protein localizes to early endosomes and is involved in phosphoinositide-mediated signaling, endosomal trafficking, and regulation of insulin signaling. It acts as a scaffold for protein kinase B (AKT) and modulates glucose uptake.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus Type 2 | Impaired insulin signaling via AKT modulation | PMID: 20089853 |
| Breast Cancer | Altered expression affecting cell proliferation | PMID: 23431136 |
| Ovarian Cancer | Potential tumor suppressor role | PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.7 | Low |
| Skeletal muscle | 15.2 | Medium |
| Pancreas | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| MCF7 | 11.8 | Medium expression |
| HepG2 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Unknown functional impact |
| c.1576G>A (p.Glu526Lys) | Missense | Rare | Potential loss of FYVE domain function |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting FYVE domain may impair endosomal localization and AKT signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endosome | • phosphatidylinositol-3-phosphate binding |
| • protein kinase B binding | • endosomal transport |
| • regulation of insulin receptor signaling pathway |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-74752)
• Endosomal trafficking (Reactome: R-HSA-5653656)
Protein Summary
WDFY2 is a 531-amino acid protein with an N-terminal WD40 repeat domain and a C-terminal FYVE domain. The FYVE domain binds phosphatidylinositol-3-phosphate, targeting the protein to early endosomes. WDFY2 interacts with AKT and the insulin receptor, facilitating AKT phosphorylation and glucose transporter GLUT4 translocation. It is widely expressed, with highest levels in adipose and muscle tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDFY2 Knockout HEK293 Cell Line | EDJ-KQ7537 | Human | 115825 | Details Get a Quote |
| WDFY2 Knockout A-549 Cell Line | EDJ-KQ32824 | Human | 115825 | Details Get a Quote |
| WDFY2 Knockout HCT 116 Cell Line | EDJ-KQ32825 | Human | 115825 | Details Get a Quote |
| WDFY2 Knockout HeLa Cell Line | EDJ-KQ32826 | Human | 115825 | Details Get a Quote |
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