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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARL17A
ARF like GTPase 17A
Chromosome 17 · 17q21.31
NCBI Gene: 51326Ensembl: ENSG00000185829.19HGNC: HGNC:24096UniProt: A0A087WVX3
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmGTP bindingintracellular protein transportvesicle-mediated transportneurodegenerative diseaseKoolen-de Vries syndromeprostate carcinomaSnoring
✦AI Summary

ARL17A (ARF-like GTPase 17A) is a small GTPase involved in intracellular protein transport and vesicle-mediated trafficking 1. The gene encodes a GTP-binding protein localized to the nucleoplasm, cytoplasm, and plasma membrane, functioning in cellular transport processes [GO annotations provided]. ARL17A exhibits pleiotropic effects across multiple neurological and neurodegenerative conditions. It was identified as a pleiotropic locus influencing over 50 hippocampal and subfield volume-neuropsychiatric trait pairs, with particular relevance to Parkinson's disease risk 1. The gene was also implicated in essential tremor aetiology through linkage analysis of familial cases and associated with tremor network structure through transcriptomic associations 23. Additionally, ARL17A was identified as one of ten genes with pleiotropic effects on both primary open-angle glaucoma and Alzheimer's disease, with evidence that retinal and brain cortex-specific expression influences glaucoma risk 4. ARL17A is notably involved in the recurrent KANSL1-ARL17A fusion gene, which generates oncogenic chimeric RNAs driving lung cancer progression through a circular RNA-miRNA regulatory axis 56. The gene also shows disease associations in progressive supranuclear palsy, where brain expression levels correlate with PSP risk variants and neuropathology 7, and influences TH2 cell function in COVID-19 pathogenesis 8.

Sources cited
1
ARL17A is a pleiotropic locus influencing multiple hippocampal and subfield volumes and associated with over 50 HASV-neuropsychiatric trait pairs, with links to Parkinson's disease risk
PMID: 39394562
2
ARL17A identified as a candidate gene for familial essential tremor through whole genome sequencing and non-parametric linkage analysis
PMID: 36183486
3
ARL17A gene expression is associated with tremor network structure and intracellular volume fraction measures in essential tremor patients
PMID: 38769620
4
ARL17A identified as one of ten genes with pleiotropic effects on both primary open-angle glaucoma and Alzheimer's disease, with retinal and brain cortex expression influencing glaucoma risk
PMID: 40411683
5
KANSL1-ARL17A fusion generates oncogenic chimeric RNA and circular RNA that synergistically drive lung cancer progression via F-circKA/miR-6860 regulatory axis
PMID: 41570994
6
KANSL1-ARL17A fusion occurred with high frequency (69%) in colorectal cancer patients
PMID: 39906487
7
ARL17A brain expression levels and methylation associate with progressive supranuclear palsy risk variants and neuropathology
PMID: 27115769
8
ARL17A expression in TH2 cells is influenced by COVID-19 genetic risk variants
PMID: 34799557
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
Koolen-de Vries syndromeOpen Targets
0.34Weak
prostate carcinomaOpen Targets
0.26Weak
SnoringOpen Targets
0.20Weak
Parkinson diseaseOpen Targets
0.15Weak
functional lateralityOpen Targets
0.11Weak
obesityOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.06Suggestive
overnutritionOpen Targets
0.06Suggestive
diverticular diseaseOpen Targets
0.05Suggestive
urolithiasisOpen Targets
0.05Suggestive
heart failureOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.04Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
open-angle glaucomaOpen Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.03Suggestive
Griscelli syndrome type 1Open Targets
0.03Suggestive
Griscelli disease type 3Open Targets
0.03Suggestive
Griscelli syndrome type 3Open Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARL4AShared pathway100%VPS45Shared pathway100%LOC107984156Shared pathway100%SCFD2Shared pathway100%ARL11Shared pathway100%KANSL1Protein interaction73%
Tissue Expression6 tissues
Ovary
100%
Brain
70%
Lung
47%
Liver
42%
Bone Marrow
39%
Heart
30%
Gene Interaction Network
Click a node to explore
ARL17AARL4AVPS45LOC107984156SCFD2ARL11KANSL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IVW1
View on AlphaFold ↗
RankingsWhere ARL17A stands among ~20K protein-coding genes
  • #16,991of 20,598
    Most Researched10
Genes detectedARL17A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic architectures of the human hippocampus and those involved in neuropsychiatric traits.
PMID: 39394562
BMC Med · 2024
1.00
2
Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.
PMID: 36183486
EBioMedicine · 2022
0.90
3
Leveraging Alzheimer's Disease Omics to Identify Pleiotropic Genes Contributing to Neurodegeneration in Primary Open-Angle Glaucoma.
PMID: 40411683
Mol Neurobiol · 2025
0.80
4
Detection of fusion events by RNA sequencing in FFPE versus freshly frozen colorectal cancer tissue samples.
PMID: 39906487
Front Mol Biosci · 2024
0.70
5
The KANSL1-ARL17A fusion gene generates oncogenic chKANSARL and F-circKA RNAs that synergistically drive lung cancer progression via a novel F-circKA/miR-6860/chKANSARL axis.
PMID: 41570994
J Biol Chem · 2026
0.60