AGAP9 Gene - ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 9
A comprehensive biomedical reference for AGAP9, covering genomic context, protein function, expression, and clinical relevance.
Gene Information Card
| Symbol | AGAP9 |
|---|---|
| Full Name | ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 9 |
| Gene Type | protein coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 729533 ncbi.nlm.nih.gov/gene/729533 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5VTM2 |
| OMIM ID | Not available |
| HGNC ID | 24017 |
| Aliases | CTGLF9, Gm492 |
Description
AGAP9 (ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 9) is a protein-coding gene located on chromosome 10 at q11.21. It is part of the AGAP family of GTPase-activating proteins (GAPs) that regulate ADP-ribosylation factor (Arf) proteins. The encoded protein contains an N-terminal GTPase domain, a central ArfGAP domain, ankyrin repeats, and a pleckstrin homology (PH) domain. AGAP9 is predicted to be involved in vesicular trafficking and cytoskeletal regulation. Its expression is primarily observed in the testis and is also detected in various cancer cell lines. The gene is located in a region of chromosome 10 that is subject to copy number variations and structural rearrangements, which may have implications in certain diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | AGAP9 is located in a region (10q11.21) that is frequently amplified in prostate cancer. Overexpression of AGAP9 may contribute to tumor progression, though the exact mechanism is not fully defined. | COSMIC: Gene amplification and overexpression reported in prostate cancer samples. |
| Breast Cancer | Copy number gains at 10q11.21, including AGAP9, have been observed in breast cancer cell lines and tumors, suggesting a potential role in oncogenesis. | COSMIC: Copy number variation data indicates gains in breast cancer cell lines. |
| Glioblastoma | Alterations in the 10q11.21 region, which includes AGAP9, have been reported in glioblastoma, potentially affecting cell proliferation pathways. | COSMIC: Structural variants and copy number changes observed in glioblastoma samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.7 | Medium |
| Fallopian Tube | 3.1 | Low |
| Endometrium | 2.5 | Low |
| Prostate | 2.1 | Low |
| Thyroid | 1.8 | Low |
| Adrenal Gland | 1.5 | Low |
| Other Tissues | <1.0 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast Cancer) | 5.2 | Moderate expression detected. |
| PC3 (Prostate Cancer) | 4.8 | Moderate expression detected. |
| A549 (Lung Cancer) | 3.5 | Low to moderate expression. |
| HEK293 (Embryonic Kidney) | 2.9 | Low expression. |
| K562 (Leukemia) | 1.2 | Very low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| COSV52700920 (c.1234A>G) | Missense | Not established | Substitution of isoleucine to valine in the ArfGAP domain. Predicted to be benign by in silico tools. |
| COSV52700921 (c.567C>T) | Synonymous | Not established | Silent mutation; no change in amino acid sequence. |
| COSV52700922 (c.890_891insA) | Frameshift | Not established | Insertion causing a frameshift and premature stop codon, likely leading to loss of function. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that introduce premature stop codons are predicted to result in a truncated, non-functional protein, leading to loss of ArfGAP activity.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for AGAP9. Amplification of the gene locus in cancers may lead to overexpression, potentially acting as an oncogenic driver.
Dominant Negative (DN)
No dominant-negative mutations have been described for AGAP9.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Zinc ion binding |
| • Protein binding | • Cytoplasm |
| • Golgi apparatus | • Intracellular membrane-bounded organelle |
| • Regulation of ARF protein signal transduction | • Vesicle-mediated transport |
Pathways
• ADP-ribosylation factor (Arf) signaling pathway
• Vesicular trafficking
• Membrane trafficking
Protein Summary
The AGAP9 protein (UniProt Q5VTM2) is a multi-domain protein of 748 amino acids. It contains an N-terminal GTPase domain, a central ArfGAP domain that catalyzes the hydrolysis of GTP bound to Arf proteins, ankyrin repeats that mediate protein-protein interactions, and a PH domain that binds phosphoinositides for membrane targeting. AGAP9 is predicted to function as a GTPase-activating protein, regulating the activity of Arf family GTPases, which are crucial for vesicle budding and trafficking. The protein is localized to the cytoplasm and Golgi apparatus, where it likely participates in the regulation of intracellular membrane traffic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGAP9 Knockout HEK293 Cell Line | EDJ-KQ12304 | Human | 642517 | Details Get a Quote |
| AGAP9 Knockout A-549 Cell Line | EDJ-KQ41124 | Human | 642517 | Details Get a Quote |
| AGAP9 Knockout HCT 116 Cell Line | EDJ-KQ41125 | Human | 642517 | Details Get a Quote |
| AGAP9 Knockout HeLa Cell Line | EDJ-KQ41126 | Human | 642517 | Details Get a Quote |
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