ARL4C
ADP Ribosylation Factor Like GTPase 4C
Gene Information Card
| Symbol | ARL4C |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 4C |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 10123 ncbi.nlm.nih.gov/gene/10123 |
| Ensembl ID | ENSG00000188042 |
| UniProt ID | P56559 |
| OMIM ID | 604787 |
| HGNC ID | 694 |
| Aliases | ARL7, LAK |
Description
ARL4C (ADP Ribosylation Factor Like GTPase 4C) is a member of the ARF-like family of small GTPases. It functions as a molecular switch involved in intracellular trafficking, cytoskeletal organization, and cell signaling. ARL4C is implicated in cell proliferation, differentiation, and migration, and its dysregulation is associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression promotes cell proliferation and invasion via Wnt/β-catenin signaling | PMID: 25944712 |
| Lung Adenocarcinoma | Upregulation correlates with poor prognosis and enhanced metastasis | PMID: 31019238 |
| Hepatocellular Carcinoma | ARL4C knockdown reduces tumor growth and migration in vitro | PMID: 29323342 |
| Bardet-Biedl Syndrome | Potential modifier gene; altered ciliary transport | PMID: 21552267 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Colon | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 14.8 | High expression |
| HCT116 (Colon) | 11.2 | Moderate expression |
| HepG2 (Liver) | 7.5 | Low expression |
| HEK293 (Embryonic kidney) | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.1% | Unknown functional impact |
| c.458G>A (p.Arg153Gln) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair GTP binding or hydrolysis, reducing signaling activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests possible gain-of-function role.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • cilium assembly |
| • small GTPase mediated signal transduction |
Pathways
• Wnt signaling pathway
• Hippo signaling pathway
• Endocytosis
Protein Summary
ARL4C encodes a 200-amino acid small GTPase that cycles between GDP-bound (inactive) and GTP-bound (active) states. It localizes to the plasma membrane and endosomes, regulating vesicle trafficking and actin dynamics. ARL4C is highly expressed in testis and certain cancer cell lines, where it promotes cell motility and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL4C Knockout HEK293 Cell Line | EDJ-KQ12424 | Human | 10123 | Details Get a Quote |
| ARL4C Knockout A-549 Cell Line | EDJ-KQ41337 | Human | 10123 | Details Get a Quote |
| ARL4C Knockout HCT 116 Cell Line | EDJ-KQ41338 | Human | 10123 | Details Get a Quote |
| ARL4C Knockout SK-LMS-1 Cell Line | EDJ-KZ555 | Human | 10123 | Details Get a Quote |
| ARL4C Knockout HeLa Cell Line | EDJ-KQ55323 | Human | 10123 | Details Get a Quote |
