GDI2: GDP Dissociation Inhibitor 2
A key regulator of Rab GTPase cycling and vesicle trafficking
Gene Information Card
| Symbol | GDI2 |
|---|---|
| Full Name | GDP dissociation inhibitor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 2665 ncbi.nlm.nih.gov/gene/2665 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | P50395 |
| OMIM ID | 600767 |
| HGNC ID | 4227 |
| Aliases | RABGDIB, RAB GDI beta, GDI-2 |
Description
GDI2 encodes a member of the Rab GDP dissociation inhibitor (GDI) family. The protein regulates the cycling of Rab GTPases between GDP-bound (inactive) and GTP-bound (active) states, controlling vesicle trafficking, membrane transport, and intracellular signaling. GDI2 is ubiquitously expressed and plays a critical role in neuronal function, immune response, and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered GDI2 expression disrupts Rab-mediated vesicle trafficking, promoting tumor growth and metastasis. | COSMIC, ClinVar |
| Neurodegenerative disorders | Impaired GDI2 function leads to defective synaptic vesicle recycling and neuronal dysfunction. | OMIM, NCBI Gene |
| Intellectual disability | Rare GDI2 variants may affect neuronal development and synaptic plasticity. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| SH-SY5Y | 13.1 | Neuronal cell line, high expression |
| MCF7 | 9.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Altered protein stability and Rab binding |
| c.101G>A (p.Arg34Gln) | Missense | <0.01% | Reduced GDI activity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish GDI2 activity, impairing Rab cycling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for GDI2.
View complete mutation data：
Gene Ontology (GO)
| • GDP-dissociation inhibitor activity | • Rab GTPase binding |
| • vesicle-mediated transport | • intracellular protein transport |
| • regulation of GTPase activity |
Pathways
• Rab regulation of trafficking
• Endocytosis
• Synaptic vesicle cycle
Protein Summary
GDI2 is a 445-amino acid protein that binds prenylated Rab GTPases, extracting them from membranes and maintaining them in a soluble, GDP-bound pool. It is essential for proper vesicle targeting and fusion. Structural studies show a two-domain architecture: a large helical domain for Rab binding and a smaller domain for membrane interaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDI2 Knockout HEK293 Cell Line | EDJ-KQ1005 | Human | 2665 | Details Get a Quote |
| GDI2 Knockout A-549 Cell Line | EDJ-KQ20057 | Human | 2665 | Details Get a Quote |
| GDI2 Knockout HCT 116 Cell Line | EDJ-KQ20058 | Human | 2665 | Details Get a Quote |
| GDI2 Knockout HeLa Cell Line | EDJ-KQ20059 | Human | 2665 | Details Get a Quote |
