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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARL2
ARF like GTPase 2
Chromosome 11 · 11q13.1
NCBI Gene: 402Ensembl: ENSG00000213465.9HGNC: HGNC:693UniProt: P36404
96PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmnucleolusmitochondrionneurodegenerative diseaseMRCS syndromeneoplasmglioma
✦AI Summary

ARL2 is a small GTPase that cycles between inactive GDP-bound and active GTP-bound states, regulating diverse cellular processes through interaction with guanine nucleotide exchange factors and GTPase-activating proteins 1. Primary functions include regulation of microtubule dynamics and centrosome integrity, where ARL2 antagonizes TBCD-mediated microtubule destruction and participates in centrosome cohesion through a pathway involving ELMOD2 and Rootletin 23. ARL2 localizes to mitochondria and regulates mitochondrial fusion and integrity, binding the adenine nucleotide transporter ANT1 42. Additionally, ARL2 mediates trafficking of lipidated cargo to cilia via PDE6δ and Unc119 carriers 1. In the nucleus, ARL2 promotes homologous recombination repair by coordinating RAD51 family gene expression, critical for colon cancer stem cell survival 5. Disease relevance is substantial: ARL2 is downregulated in glioma yet upregulated in cervical cancer, where miR-214 suppresses proliferation by targeting ARL2 67. In Alzheimer's disease, ARL2 represents an APOE-ε4-dependent protein signature, being downregulated by APOE-ε4 yet paradoxically upregulated with disease onset, suggesting a compensatory response to neurodegeneration 8. These multifunctional roles position ARL2 as a potential therapeutic target across multiple cancer types and neurodegenerative diseases.

Sources cited
1
ARL2 regulates trafficking of lipidated cargo between compartments via PDE6δ and Unc119 carriers
PMID: 27806215
2
ARL2 regulates both microtubule dynamics and mitochondrial fusion as a conserved regulatory hub
PMID: 27400436
3
ARL2 functions with ELMOD2 and Rootletin to suppress spurious ciliation and maintain centrosome cohesion
PMID: 33596093
4
ARL2 and BART complex enter mitochondria and bind the adenine nucleotide transporter ANT1
PMID: 11809823
5
ARL2 is required for homologous recombination repair and colon cancer stem cell survival
PMID: 35567502
6
ARL2 is downregulated in glioma and inhibits glioma proliferation through AXL regulation
PMID: 29843637
7
miR-214 targets ARL2 as an oncogene in cervical cancer, suppressing proliferation and invasion
PMID: 28137590
8
ARL2 is an APOE-ε4-dependent protein signature in Alzheimer's disease, downregulated by APOE-ε4 yet upregulated with disease onset
PMID: 39169269
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.54Moderate
MRCS syndromeOpen Targets
0.50Moderate
neoplasmOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.06Suggestive
skin basal cell carcinomaOpen Targets
0.03Suggestive
breast neoplasmOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
strokeOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
melanomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
nasopharyngeal carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
metastatic malignant neoplasmOpen Targets
0.01Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
Shwachman-Diamond syndromeOpen Targets
0.01Suggestive
Sleep DisorderOpen Targets
0.01Suggestive
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1UniProt
Pathogenic Variants1
NM_001667.4(ARL2):c.44G>T (p.Arg15Leu)Pathogenic
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
☆☆☆☆2021→ Residue 15
View on ClinVar ↗
Related Genes
ARL2BPProtein interaction100%UNC119Protein interaction100%PDE6DProtein interaction98%TUBB2AProtein interaction80%TUBB4BProtein interaction71%TUBB4AProtein interaction71%
Tissue Expression6 tissues
Heart
100%
Brain
86%
Ovary
84%
Lung
83%
Bone Marrow
49%
Liver
25%
Gene Interaction Network
Click a node to explore
ARL2ARL2BPUNC119PDE6DTUBB2ATUBB4BTUBB4A
PROTEIN STRUCTURE
Preparing viewer…
PDB3DOE · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.55 [0.34–0.94]
RankingsWhere ARL2 stands among ~20K protein-coding genes
  • #4,971of 20,598
    Most Researched96 · top quartile
  • #4,901of 5,498
    Most Pathogenic Variants1
  • #8,668of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedARL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sorting of lipidated cargo by the Arl2/Arl3 system.
PMID: 27806215
Small GTPases · 2016
1.00
2
Serum proteomics reveal APOE-ε4-dependent and APOE-ε4-independent protein signatures in Alzheimer's disease.
PMID: 39169269
Nat Aging · 2024
0.90
3
Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.
PMID: 27400436
Small GTPases · 2016
0.80
4
ARL2 is required for homologous recombination repair and colon cancer stem cell survival.
PMID: 35567502
FEBS Open Bio · 2022
0.70
5
miR-214 down-regulates ARL2 and suppresses growth and invasion of cervical cancer cells.
PMID: 28137590
Biochem Biophys Res Commun · 2017
0.60