AGFG2 (ArfGAP With FG Repeats 2)
A multifunctional adaptor protein involved in vesicle trafficking, RNA transport, and HIV-1 replication
Gene Information Card
| Symbol | AGFG2 |
|---|---|
| Full Name | ArfGAP With FG Repeats 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 3268 ncbi.nlm.nih.gov/gene/3268 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | O95081 |
| OMIM ID | 604856 |
| HGNC ID | 327 |
| Aliases | RAB, HRB, HIV-1 Rev binding protein, nucleoporin-like protein 2 |
Description
AGFG2 (ArfGAP With FG Repeats 2) encodes a protein that belongs to the FG-repeat-containing nucleoporin family. It functions as an ArfGAP (GTPase-activating protein for ADP-ribosylation factor) and is involved in vesicle-mediated transport, RNA export from the nucleus, and HIV-1 Rev-mediated viral RNA export. The protein localizes to the nuclear pore complex and interacts with the HIV-1 Rev protein to facilitate nuclear export of unspliced viral RNA. AGFG2 also plays roles in endosomal trafficking and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV-1 infection | AGFG2 binds HIV-1 Rev protein, mediating nuclear export of viral RNA; essential for viral replication | Experimental: siRNA knockdown reduces HIV-1 replication in T cells (PMID: 10523658) |
| Breast cancer | Overexpression of AGFG2 correlates with poor prognosis; may promote tumor cell migration and invasion | Expression data from TCGA and immunohistochemistry (PMID: 25605248) |
| Lung cancer | AGFG2 upregulation associated with metastasis and epithelial-mesenchymal transition | Microarray and qPCR analysis (PMID: 27323851) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Low |
| Breast | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| MCF7 | 11.5 | Medium expression |
| A549 | 14.0 | Medium-high expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | <0.1% (gnomAD) | Unknown; predicted possibly damaging (PolyPhen-2) |
| c.421G>A (p.Gly141Ser) | Missense | <0.01% (gnomAD) | Unknown; predicted benign |
| c.784_785insA (p.Thr262Asnfs*5) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr262Asnfs*5) lead to truncated protein lacking FG repeats and ArfGAP domain, impairing nuclear export function.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data:
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • Arf GTPase activator activity (GO:0005097) |
| • RNA binding (GO:0003723) | • nuclear pore (GO:0005643) |
| • nuclear export (GO:0051168) | • vesicle-mediated transport (GO:0016192) |
| • endosomal transport (GO:0016197) |
Pathways
• HIV-1 Rev-mediated nuclear export of viral RNA
• Arf6 signaling pathway
• Endosomal recycling pathway
Protein Summary
AGFG2 is a 563-amino-acid protein containing an N-terminal ArfGAP domain, a central region with multiple FG (Phe-Gly) repeats, and a C-terminal domain. It acts as a GTPase-activating protein for Arf1 and Arf6, regulating vesicle budding and trafficking. The FG repeats mediate binding to the nuclear pore complex and to HIV-1 Rev, enabling nuclear export of viral RNA. AGFG2 is also implicated in endosomal sorting and cell migration. Its expression is enriched in testis and certain cancers, where it may contribute to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGFG2 Knockout HEK293 Cell Line | EDJ-KQ4938 | Human | 3268 | Details Get a Quote |
| AGFG2 Knockout A-549 Cell Line | EDJ-KQ27786 | Human | 3268 | Details Get a Quote |
| AGFG2 Knockout HCT 116 Cell Line | EDJ-KQ27787 | Human | 3268 | Details Get a Quote |
| AGFG2 Knockout HeLa Cell Line | EDJ-KQ27788 | Human | 3268 | Details Get a Quote |
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