ARHGEF39
Rho Guanine Nucleotide Exchange Factor 39
Gene Information Card
| Symbol | ARHGEF39 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 39 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 84904 ncbi.nlm.nih.gov/gene/84904 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q9H6X6 |
| OMIM ID | 617793 |
| HGNC ID | 26680 |
| Aliases | FLJ10324, GEF39 |
Description
ARHGEF39 encodes a Rho guanine nucleotide exchange factor that activates Rho GTPases by catalyzing the exchange of GDP for GTP. It plays a role in cytoskeletal reorganization and cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression may promote RhoA activation and tumor cell invasion | Limited; COSMIC reports somatic mutations in various cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| A549 | 7.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data:
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity | • GTPase activator activity |
| • cytosol | • plasma membrane |
| • cell migration |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
Protein Summary
ARHGEF39 is a 648-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, typical of RhoGEFs. It specifically activates RhoA and related GTPases to regulate actin dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF39 Knockout HEK293 Cell Line | EDJ-KQ2311 | Human | 84904 | Details Get a Quote |
| ARHGEF39 Knockout HeLa Cell Line | EDJ-KQ21366 | Human | 84904 | Details Get a Quote |
| ARHGEF39 Knockout A-549 Cell Line | EDJ-KQ22692 | Human | 84904 | Details Get a Quote |
| ARHGEF39 Knockout HCT 116 Cell Line | EDJ-KQ22693 | Human | 84904 | Details Get a Quote |
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