FARP2: FERM, ARH/RhoGEF and Pleckstrin Domain Protein 2
A Rho GTPase guanine nucleotide exchange factor involved in cytoskeletal dynamics and cell signaling
Gene Information Card
| Symbol | FARP2 |
|---|---|
| Full Name | FERM, ARH/RhoGEF and Pleckstrin Domain Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 9855 ncbi.nlm.nih.gov/gene/9855 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | O94887 |
| OMIM ID | 608991 |
| HGNC ID | 16460 |
| Aliases | FERM domain containing 4B, FRMD4B, PLEKHC3 |
Description
FARP2 encodes a protein containing an N-terminal FERM domain, a RhoGEF domain, and a C-terminal pleckstrin homology domain. It functions as a guanine nucleotide exchange factor for Rho GTPases, regulating cytoskeletal reorganization, cell adhesion, and migration. The gene is expressed in multiple tissues and is implicated in neurodevelopmental processes and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | FARP2 overexpression may promote cell migration via RhoA activation | COSMIC; PMID: 23431137 |
| Breast cancer | Altered expression linked to invasive phenotype | COSMIC; PMID: 25691885 |
| Neurodevelopmental disorders | Rare variants reported in autism spectrum disorder | ClinVar; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| A549 | 6.5 | Lung carcinoma |
| MCF7 | 5.2 | Breast carcinoma |
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 functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Reported in autism cohort |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of GEF activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase RhoA activation.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome R-HSA-194840)
• Signaling by Rho GTPases (Reactome R-HSA-194315)
Protein Summary
FARP2 is a 1049-amino acid protein with a FERM domain (residues 1-300), a RhoGEF domain (residues 400-600), and a pleckstrin homology domain (residues 700-800). It localizes to the cytoplasm and membrane, where it activates RhoA and Rac1 to regulate actin dynamics. The protein is involved in cell migration, neurite outgrowth, and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FARP2 Knockout HEK293 Cell Line | EDJ-KQ1337 | Human | 9855 | Details Get a Quote |
| FARP2 Knockout A-549 Cell Line | EDJ-KQ20794 | Human | 9855 | Details Get a Quote |
| FARP2 Knockout HCT 116 Cell Line | EDJ-KQ20795 | Human | 9855 | Details Get a Quote |
| FARP2 Knockout HeLa Cell Line | EDJ-KQ20796 | Human | 9855 | Details Get a Quote |
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