ARFGAP2
ADP Ribosylation Factor GTPase Activating Protein 2
Gene Information Card
| Symbol | ARFGAP2 |
|---|---|
| Full Name | ADP Ribosylation Factor GTPase Activating Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 84364 ncbi.nlm.nih.gov/gene/84364 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q8N6H7 |
| OMIM ID | 612443 |
| HGNC ID | 25537 |
| Aliases | ZNF289, FLJ14547, MGC131831 |
Description
ARFGAP2 encodes a GTPase-activating protein (GAP) that regulates ADP-ribosylation factor (ARF) proteins by stimulating the hydrolysis of GTP to GDP. This protein localizes to the Golgi apparatus and is involved in vesicle trafficking, Golgi structure maintenance, and intracellular membrane transport. It contains a zinc finger motif and a PH domain, which mediate interactions with phospholipids and other proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ARFGAP2 expression may disrupt Golgi trafficking and signaling, contributing to tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Potential role in neuronal vesicle transport; limited evidence from rare variants. | ClinVar lists uncertain significance variants in individuals with developmental delay. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Pancreas | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cell line |
| HeLa | 11.2 | Cervical cancer cell line |
| A549 | 9.8 | Lung carcinoma cell line |
| MCF7 | 7.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; reported in COSMIC as somatic variant |
| c.1789_1790insA | Frameshift | <0.01% | Likely loss-of-function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of GAP activity, impairing ARF regulation and vesicle trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established; some missense variants may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • zinc ion binding |
| • Golgi apparatus | • intracellular protein transport |
| • regulation of ARF protein signal transduction |
Pathways
• ADP-ribosylation factor (ARF) signaling
• Vesicle-mediated transport
• Golgi-to-ER retrograde transport
Protein Summary
ARFGAP2 is a 486-amino-acid protein containing an N-terminal zinc finger domain and a pleckstrin homology (PH) domain. It acts as a GTPase-activating protein for ARF1 and ARF5, promoting GTP hydrolysis and regulating membrane trafficking at the Golgi. The protein is ubiquitously expressed with higher levels in brain and testis. Post-translational modifications include phosphorylation at multiple sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARFGAP2 Knockout HEK293 Cell Line | EDJ-KQ9297 | Human | 84364 | Details Get a Quote |
| ARFGAP2 Knockout A-549 Cell Line | EDJ-KQ37142 | Human | 84364 | Details Get a Quote |
| ARFGAP2 Knockout HCT 116 Cell Line | EDJ-KQ37144 | Human | 84364 | Details Get a Quote |
| ARFGAP2 Knockout HeLa Cell Line | EDJ-KQ37145 | Human | 84364 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
