PIP4P2
Phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2
Gene Information Card
| Symbol | PIP4P2 |
|---|---|
| Full Name | phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 84709 ncbi.nlm.nih.gov/gene/84709 |
| Ensembl ID | ENSG00000167994 |
| UniProt ID | Q8N8Y2 |
| OMIM ID | 617722 |
| HGNC ID | 26248 |
| Aliases | TMEM55B, PIP4P2 |
Description
PIP4P2 (phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2) encodes a type I transmembrane protein that localizes to the Golgi apparatus and dephosphorylates phosphatidylinositol-4,5-bisphosphate (PIP2) to phosphatidylinositol-5-phosphate (PI5P). This enzyme plays a role in phosphoinositide signaling and vesicular trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.3 | Medium |
| Testis | 15.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| K562 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 | • 5-bisphosphate 4-phosphatase activity |
| • Golgi membrane | • phosphatidylinositol dephosphorylation |
| • intracellular signal transduction |
Pathways
• Phosphatidylinositol phosphate metabolism
• Inositol phosphate metabolism
Protein Summary
PIP4P2 is a 285-amino acid transmembrane protein with a phosphatase domain that specifically removes the 4-phosphate from phosphatidylinositol-4,5-bisphosphate, generating phosphatidylinositol-5-phosphate. It is anchored in the Golgi membrane and participates in phosphoinositide signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP4P2 Knockout HEK293 Cell Line | EDJ-KQ1676 | Human | 55529 | Details Get a Quote |
| PIP4P2 Knockout A-549 Cell Line | EDJ-KQ21454 | Human | 55529 | Details Get a Quote |
| PIP4P2 Knockout HCT 116 Cell Line | EDJ-KQ21455 | Human | 55529 | Details Get a Quote |
| PIP4P2 Knockout HeLa Cell Line | EDJ-KQ21456 | Human | 55529 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
