PITPNB
Phosphatidylinositol Transfer Protein Beta
Gene Information Card
| Symbol | PITPNB |
|---|---|
| Full Name | Phosphatidylinositol Transfer Protein Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 23760 ncbi.nlm.nih.gov/gene/23760 |
| Ensembl ID | ENSG00000100218 |
| UniProt ID | P48739 |
| OMIM ID | 606876 |
| HGNC ID | 9002 |
| Aliases | PI-TP-beta, PITPN, VAM1 |
Description
PITPNB encodes phosphatidylinositol transfer protein beta (PI-TP-beta), a cytosolic protein that transfers phosphatidylinositol and phosphatidylcholine between membranes. It plays a role in lipid signaling, vesicular trafficking, and phospholipid metabolism. The gene is located on chromosome 22q12.1 and is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease, axonal, type 2Z | Missense mutations in PITPNB disrupt lipid transfer activity, impairing axonal membrane maintenance | ClinVar, OMIM |
| Hereditary sensory and autonomic neuropathy type IID | Loss-of-function variants lead to defective phospholipid transport in sensory neurons | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | Medium |
| Liver | 12.3 | Medium |
| Heart | 9.8 | Low |
| Kidney | 11.2 | Medium |
| Lung | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 8.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.722G>A (p.Arg241His) | Missense | Rare | Reduced phosphatidylinositol transfer activity |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Impaired membrane binding and lipid transfer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg241His) reduce lipid transfer activity, leading to neuropathy phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established for PITPNB.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol transfer activity | • phosphatidylcholine transfer activity |
| • lipid transport | • vesicle-mediated transport |
| • Golgi organization |
Pathways
• Phospholipid transport
• Glycerophospholipid metabolism
• Vesicular trafficking
Protein Summary
Phosphatidylinositol transfer protein beta (PI-TP-beta) is a 271-amino acid protein that shuttles phosphatidylinositol and phosphatidylcholine between membrane compartments. It contains a lipid-binding domain and is essential for maintaining phospholipid homeostasis, particularly in neuronal cells. Mutations in PITPNB cause axonal Charcot-Marie-Tooth disease and hereditary sensory neuropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITPNB Knockout HEK293 Cell Line | EDJ-KQ8128 | Human | 23760 | Details Get a Quote |
| PITPNB Knockout HCT 116 Cell Line | EDJ-KQ34012 | Human | 23760 | Details Get a Quote |
| PITPNB Knockout HeLa Cell Line | EDJ-KQ34013 | Human | 23760 | Details Get a Quote |
| PITPNB Knockout A-549 Cell Line | EDJ-KQ32672 | Human | 23760 | Details Get a Quote |
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