ZFYVE28
Zinc Finger FYVE-Type Containing 28
Gene Information Card
| Symbol | ZFYVE28 |
|---|---|
| Full Name | Zinc Finger FYVE-Type Containing 28 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 57732 ncbi.nlm.nih.gov/gene/57732 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9HCC0 |
| OMIM ID | 617066 |
| HGNC ID | 29373 |
| Aliases | KIAA1510, LEREPO4, MSTP106 |
Description
ZFYVE28 encodes a protein containing a FYVE-type zinc finger domain, which typically mediates binding to phosphatidylinositol 3-phosphate and is involved in endosomal trafficking and membrane dynamics. The protein may play roles in intracellular signaling and vesicle transport. Expression is observed in multiple tissues, with potential implications in cancer and neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence tumor progression; exact mechanism unclear | COSMIC; NCBI Gene |
| Neurodevelopmental disorders | Variants in ZFYVE28 have been associated with intellectual disability and developmental delay | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental phenotypes |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endosome | • phosphatidylinositol-3-phosphate binding |
| • zinc ion binding | • intracellular protein transport |
Pathways
• Endosomal trafficking
• Phosphoinositide signaling
Protein Summary
The ZFYVE28 protein contains a FYVE zinc finger domain that binds phosphatidylinositol 3-phosphate, localizing to endosomal membranes. It is involved in vesicle trafficking and may regulate signaling pathways. Expression is low in most tissues, with highest levels in testis and brain. Loss-of-function mutations are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFYVE28 Knockout HEK293 Cell Line | EDJ-KQ16223 | Human | 57732 | Details Get a Quote |
| ZFYVE28 Knockout HeLa Cell Line | EDJ-KQ46252 | Human | 57732 | Details Get a Quote |
| ZFYVE28 Knockout A-549 Cell Line | EDJ-KQ47506 | Human | 57732 | Details Get a Quote |
| ZFYVE28 Knockout HCT 116 Cell Line | EDJ-KQ47507 | Human | 57732 | Details Get a Quote |
| Zfyve28 Knockout BV-2 Cell Line | EDC90014 | Mouse | 231125 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
