RUFY4
RUN and FYVE domain-containing protein 4
Gene Information Card
| Symbol | RUFY4 |
|---|---|
| Full Name | RUN and FYVE domain-containing protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 285180 ncbi.nlm.nih.gov/gene/285180 |
| Ensembl ID | ENSG00000188739 |
| UniProt ID | Q6ZNE5 |
| OMIM ID | 616325 |
| HGNC ID | 30226 |
| Aliases | FLJ13154, ZFYVE31 |
Description
RUFY4 encodes a protein containing an N-terminal RUN domain and a C-terminal FYVE zinc finger domain. The protein is involved in endosomal trafficking and autophagy, particularly in immune cells. It regulates the maturation of autophagosomes and endosomes, influencing antigen presentation and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of autophagy and endosomal trafficking may promote tumor growth and immune evasion. | Limited; expression changes observed in some cancer transcriptomes (COSMIC). |
| Inflammatory diseases | Altered autophagy in macrophages and dendritic cells may affect cytokine production and inflammation. | Indirect; based on functional studies (NCBI Gene). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 8.2 | Medium |
| Spleen | 6.5 | Medium |
| Lymph node | 5.1 | Low |
| Bone marrow | 4.3 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 12.5 | High expression in monocytic cell line |
| HeLa (cervical) | 3.0 | Low expression |
| A549 (lung) | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | missense | <0.1% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | missense | <0.1% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • endosome | • autophagosome |
| • protein binding | • zinc ion binding |
| • endosomal transport | • autophagy |
Pathways
• Autophagy (hsa04140)
• Endocytosis (hsa04144)
Protein Summary
RUFY4 is a 678-amino-acid protein that localizes to endosomes and autophagosomes. It contains a RUN domain that mediates interactions with Rab GTPases and a FYVE domain that binds phosphatidylinositol 3-phosphate (PI3P) on endosomal membranes. The protein promotes autophagosome-lysosome fusion and endosomal maturation, playing a key role in immune cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RUFY4 Knockout HEK293 Cell Line | EDJ-KQ15149 | Human | 285180 | Details Get a Quote |
| RUFY4 Knockout HeLa Cell Line | EDJ-KQ59504 | Human | 285180 | Details Get a Quote |
| RUFY4 Knockout A-549 Cell Line | EDJ-KQ67971 | Human | 285180 | Details Get a Quote |
| RUFY4 Knockout HCT 116 Cell Line | EDJ-KQ76347 | Human | 285180 | Details Get a Quote |
