PLEKHG4B Gene
Pleckstrin Homology and RhoGEF Domain Containing G4B
Gene Information Card
| Symbol | PLEKHG4B |
|---|---|
| Full Name | Pleckstrin homology and RhoGEF domain containing G4B |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.2 |
| NCBI Gene ID | 153478 ncbi.nlm.nih.gov/gene/153478 |
| Ensembl ID | ENSG00000164362 |
| UniProt ID | Q96PX8 |
| OMIM ID | 614713 |
| HGNC ID | 29365 |
| Aliases | FLJ13163, KIAA1909, PURATLAS |
Description
PLEKHG4B encodes a protein containing a pleckstrin homology (PH) domain and a Rho guanine nucleotide exchange factor (RhoGEF) domain. RhoGEF proteins activate Rho GTPases by catalyzing the exchange of GDP for GTP, regulating cytoskeletal dynamics, cell migration, and signal transduction. The specific biological function of PLEKHG4B is not fully characterized, but it is implicated in cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No ClinVar or OMIM entries |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Low |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Heart | 5.1 | Low |
| Liver | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney |
| HeLa | 8.7 | Cervical carcinoma |
| K562 | 6.3 | Leukemia |
| A549 | 5.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • guanyl-nucleotide exchange factor activity (GO:0005085) | • intracellular anatomical structure (GO:0005622) |
| • regulation of Rho protein signal transduction (GO:0035023) |
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
Protein Summary
The PLEKHG4B protein (UniProt Q96PX8) is 1,228 amino acids long and contains a PH domain and a RhoGEF domain. It is predicted to localize to the cytoplasm and may function as a guanine nucleotide exchange factor for Rho family GTPases, influencing actin cytoskeleton organization and cell morphology. Expression is low across most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHG4B Knockout HEK293 Cell Line | EDJ-KQ11504 | Human | 153478 | Details Get a Quote |
| PLEKHG4B Knockout HeLa Cell Line | EDJ-KQ58725 | Human | 153478 | Details Get a Quote |
| PLEKHG4B Knockout A-549 Cell Line | EDJ-KQ67208 | Human | 153478 | Details Get a Quote |
| PLEKHG4B Knockout HCT 116 Cell Line | EDJ-KQ75612 | Human | 153478 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
