PLEKHG6: Pleckstrin Homology and RhoGEF Domain Containing G6
A Rho guanine nucleotide exchange factor involved in cytoskeletal dynamics and cell migration.
Gene Information Card
| Symbol | PLEKHG6 |
|---|---|
| Full Name | Pleckstrin homology and RhoGEF domain containing G6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q15 |
| NCBI Gene ID | 55200 ncbi.nlm.nih.gov/gene/55200 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q68DX3 |
| OMIM ID | 611504 |
| HGNC ID | 29356 |
| Aliases | FLJ00011, MyoGEF, GEF-H2 |
Description
PLEKHG6 encodes a Rho guanine nucleotide exchange factor (RhoGEF) that activates Rho GTPases, particularly RhoA and RhoC. It contains a pleckstrin homology (PH) domain and a Dbl homology (DH) domain, which are characteristic of RhoGEFs. The protein plays a role in cytoskeletal reorganization, cell migration, and cytokinesis. It is also known as MyoGEF due to its interaction with myosin II and involvement in actomyosin contractility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of PLEKHG6 promotes RhoA/RhoC activation, enhancing cell migration and invasion. | PMID: 20010870 |
| Colorectal cancer | PLEKHG6 is upregulated and associated with poor prognosis; contributes to tumor progression via RhoA signaling. | PMID: 25944712 |
| Neurodevelopmental disorders | Rare variants in PLEKHG6 have been implicated in intellectual disability and autism spectrum disorder. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Breast | 2.1 | Low |
| Colon | 4.5 | Low |
| Ovary | 6.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 4.3 | Moderate expression |
| HCT116 (colorectal cancer) | 5.8 | Moderate expression |
| HEK293 (embryonic kidney) | 3.2 | Low expression |
| SH-SY5Y (neuroblastoma) | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT/PolyPhen |
| c.567_569del (p.Glu189del) | In-frame deletion | <0.01% | May alter DH domain function |
| c.2101G>A (p.Val701Met) | Missense | 0.02% | Benign according to ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function via increased RhoA activation.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
• Regulation of actin dynamics for phagocytic cup formation (Reactome: R-HSA-2029482)
Protein Summary
PLEKHG6 (MyoGEF) is a 1082-amino acid protein containing an N-terminal PH domain and a central DH domain. It functions as a guanine nucleotide exchange factor for RhoA and RhoC, promoting their active GTP-bound state. The protein localizes to the cytoplasm and is involved in actomyosin contractility, cell migration, and cytokinesis. It interacts with myosin II and is regulated by phosphorylation. Overexpression in certain cancers correlates with invasive phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHG6 Knockout HEK293 Cell Line | EDJ-KQ14049 | Human | 55200 | Details Get a Quote |
| PLEKHG6 Knockout A-549 Cell Line | EDJ-KQ45216 | Human | 55200 | Details Get a Quote |
| PLEKHG6 Knockout HCT 116 Cell Line | EDJ-KQ45218 | Human | 55200 | Details Get a Quote |
| PLEKHG6 Knockout HeLa Cell Line | EDJ-KQ56554 | Human | 55200 | Details Get a Quote |
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