ARHGAP4
Rho GTPase Activating Protein 4
Gene Information Card
| Symbol | ARHGAP4 |
|---|---|
| Full Name | Rho GTPase Activating Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 393 ncbi.nlm.nih.gov/gene/393 |
| Ensembl ID | ENSG00000102081 |
| UniProt ID | P98171 |
| OMIM ID | 300023 |
| HGNC ID | 676 |
| Aliases | RhoGAP4, C1, SrGAP4, FLJ20165 |
Description
ARHGAP4 encodes a member of the Rho GTPase-activating protein family. The protein contains a RhoGAP domain and is involved in regulating cell migration, cytoskeletal organization, and intracellular signaling by inactivating small GTPases such as RhoA, Rac1, and Cdc42. Mutations in this gene have been associated with X-linked intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair Rho GTPase regulation, affecting neuronal development and synaptic function | ClinVar, OMIM |
| Cancer (various) | Altered expression may contribute to tumor cell migration and invasion via dysregulated Rho signaling | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| SH-SY5Y | 14.7 | Neuroblastoma cell line |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 5.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1432G>A (p.Gly478Arg) | Missense | Rare | Likely damaging; altered GAP activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • cytoskeleton | • cell migration |
| • signal transduction | • plasma membrane |
| • cytoplasm |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Axon guidance
Protein Summary
ARHGAP4 is a 1025-amino acid protein containing a RhoGAP domain. It acts as a GTPase-activating protein for Rho family GTPases, converting them to an inactive GDP-bound state. The protein is involved in cytoskeletal dynamics, cell adhesion, and neuronal development. It is predominantly expressed in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP4 Knockout HEK293 Cell Line | EDJ-KQ3059 | Human | 393 | Details Get a Quote |
| ARHGAP44 Knockout HEK293 Cell Line | EDJ-KQ6814 | Human | 9912 | Details Get a Quote |
| ARHGAP45 Knockout HEK293 Cell Line | EDJ-KQ8052 | Human | 23526 | Details Get a Quote |
| ARHGAP42 Knockout HEK293 Cell Line | EDJ-KQ10395 | Human | 143872 | Details Get a Quote |
| ARHGAP40 Knockout HEK293 Cell Line | EDJ-KQ12413 | Human | 343578 | Details Get a Quote |
| ARHGAP40 Knockout HCT 116 Cell Line | EDJ-KQ41316 | Human | 343578 | Details Get a Quote |
| ARHGAP4 Knockout HCT 116 Cell Line | EDJ-KQ24320 | Human | 393 | Details Get a Quote |
| ARHGAP44 Knockout A-549 Cell Line | EDJ-KQ31330 | Human | 9912 | Details Get a Quote |
| ARHGAP44 Knockout HCT 116 Cell Line | EDJ-KQ31331 | Human | 9912 | Details Get a Quote |
| ARHGAP44 Knockout HeLa Cell Line | EDJ-KQ31332 | Human | 9912 | Details Get a Quote |
| ARHGAP45 Knockout A-549 Cell Line | EDJ-KQ33863 | Human | 23526 | Details Get a Quote |
| ARHGAP45 Knockout HCT 116 Cell Line | EDJ-KQ33864 | Human | 23526 | Details Get a Quote |
| ARHGAP45 Knockout HeLa Cell Line | EDJ-KQ33865 | Human | 23526 | Details Get a Quote |
| ARHGAP42 Knockout A-549 Cell Line | EDJ-KQ37738 | Human | 143872 | Details Get a Quote |
| ARHGAP42 Knockout HCT 116 Cell Line | EDJ-KQ37739 | Human | 143872 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
