ARF4 Gene - ADP Ribosylation Factor 4
A small GTPase involved in vesicular trafficking and intracellular signaling
Gene Information Card
| Symbol | ARF4 |
|---|---|
| Full Name | ADP Ribosylation Factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 378 ncbi.nlm.nih.gov/gene/378 |
| Ensembl ID | ENSG00000168374 |
| UniProt ID | P18085 |
| OMIM ID | 601177 |
| HGNC ID | 654 |
| Aliases | ARF2 |
Description
ARF4 (ADP Ribosylation Factor 4) is a member of the ARF family of small GTP-binding proteins. It functions as a key regulator of vesicular trafficking, membrane dynamics, and intracellular signaling. ARF4 cycles between an active GTP-bound and inactive GDP-bound state, modulating cargo sorting and transport within the Golgi apparatus and endosomal system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ARF4 overexpression may promote tumor cell proliferation and migration via altered vesicle trafficking | COSMIC; PMID: 25691885 |
| Colorectal cancer | ARF4 upregulation associated with poor prognosis and enhanced metastatic potential | COSMIC; PMID: 27323851 |
| Retinitis pigmentosa | ARF4 mutations linked to ciliary transport defects in photoreceptor cells | ClinVar; PMID: 21295275 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| A549 | 14.2 | Lung cancer cell line |
| MCF7 | 22.1 | Breast cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | 0.02% | Unknown functional impact |
| c.458C>T (p.Thr153Met) | Missense | 0.01% | Potential loss of GTP binding |
| c.1A>G (p.Met1?) | Start loss | 0.005% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss and missense variants affecting GTP-binding domain may reduce ARF4 activity.
Gain of Function (GOF)
Not well documented; overexpression in cancers suggests possible gain-of-function role.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • GTP binding (GO:0005525) |
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
| • Golgi apparatus (GO:0005794) |
Pathways
• ADP-Ribosylation Factor Signaling (Reactome: R-HSA-9007101)
• Membrane Trafficking (Reactome: R-HSA-199991)
• Golgi-to-ER Retrograde Transport (Reactome: R-HSA-6811442)
Protein Summary
ARF4 encodes a 180-amino-acid small GTPase that localizes primarily to the Golgi apparatus and endosomes. It regulates vesicle budding, cargo selection, and membrane fusion. The protein contains conserved switch regions that undergo conformational changes upon nucleotide binding. ARF4 is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARF4 Knockout HEK293 Cell Line | EDJ-KQ4079 | Human | 378 | Details Get a Quote |
| ARF4 Knockout HCT 116 Cell Line | EDJ-KQ26451 | Human | 378 | Details Get a Quote |
| ARF4 Knockout HeLa Cell Line | EDJ-KQ26452 | Human | 378 | Details Get a Quote |
| ARF4 Knockout A-549 Cell Line | EDJ-KQ61125 | Human | 378 | Details Get a Quote |
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