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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ARL13B
ARF like GTPase 13B
Chromosome 3 Β· 3q11.1-q11.2
NCBI Gene: 200894Ensembl: ENSG00000169379.17HGNC: HGNC:25419UniProt: A0A7P0T892
74PubMed Papers
21Diseases
0Drugs
40Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intercellular bridgeciliummicrotubule cytoskeletonprotein bindingJoubert syndrome 8Joubert syndromeJoubert syndrome and related disordersgenetic disorder
✦AI Summary

ARL13B is a cilium-localized regulatory GTPase essential for primary cilium formation and function 1. It controls ciliary protein trafficking and membrane composition by regulating intraflagellar transport (IFT) subcomplexes and recruitment of cargo-binding proteins 2. In neural development, ARL13B is required for cerebral cortex patterning, including radial glial scaffold formation and interneuron migration 3. The protein regulates Hedgehog signaling by controlling Smoothened (SMO) and GLI localization within cilia, independent of exogenous ligand 4. Additionally, ARL13B mediates ciliary trafficking of phosphatidylinositol phosphatase INPP5E, crucial for ciliary signaling 2. Beyond development, ARL13B promotes tumor angiogenesis by activating VEGFA-VEGFR2 signaling in endothelial cells and regulates glioma growth through Hedgehog pathway activation 5. In stress responses, the ARL13B-ARL3 GTPase cascade regulates senescence initiation through cilia-to-PML-nuclear body communication 6. ARL13B dysfunction associates with Joubert syndrome 8 7, while its roles extend to male reproductive physiology in both motile and primary cilia contexts 8.

Sources cited
1
ARL13B is essential for complete primary ciliogenesis; knockout abolishes cilia formation
PMID: 40707593
2
ARL13B recruits cargo-binding proteins (PDE6D, RPGR, TULP3, CEP164) for ciliary targeting of INPP5E
PMID: 36063381
3
ARL13B is a ciliary marker in brain development with dynamic postnatal localization changes
PMID: 38334651
4
Increased ciliary ARL13B drives SMO and GLI2 accumulation in glioma cilia, conferring SMO inhibitor resistance
PMID: 37830570
5
ARL13B promotes tumor angiogenesis via VEGFR2 interaction and activates Hedgehog signaling in glioma cells
PMID: 36322624
6
ARL13B-ARL3 cascade negatively regulates FBF1-UBC9 association to control senescence initiation
PMID: 37019904
7
ARL13B controls male reproductive tract physiology through primary and motile cilia function
PMID: 39397107
8
ARL13B mutations cause Joubert Syndrome and regulate Hedgehog signaling in ciliopathies
PMID: 31465935
Disease Associationsβ“˜21
Joubert syndrome 8Open Targets
0.75Strong
Joubert syndromeOpen Targets
0.71Strong
Joubert syndrome and related disordersOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.37Weak
ThromboembolismOpen Targets
0.29Weak
heart diseaseOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.25Weak
clear cell renal carcinomaOpen Targets
0.24Weak
Pulmonary InfarctionOpen Targets
0.23Weak
venous thromboembolismOpen Targets
0.20Weak
pulmonary embolismOpen Targets
0.20Weak
deep vein thrombosisOpen Targets
0.19Weak
renal carcinomaOpen Targets
0.17Weak
type 1 diabetes mellitusOpen Targets
0.16Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
Joubert syndrome 8UniProt
Pathogenic Variants40
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)Pathogenic
Joubert syndrome 8|Joubert syndrome and related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 277
NM_001174150.2(ARL13B):c.861C>A (p.Cys287Ter)Pathogenic
Joubert syndrome 8
β˜…β˜…β˜†β˜†2025β†’ Residue 287
NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)Pathogenic
Joubert syndrome 8|Joubert syndrome and related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 75
NM_001174150.2(ARL13B):c.1147dup (p.Trp383fs)Pathogenic
Joubert syndrome 8
β˜…β˜…β˜†β˜†2024β†’ Residue 383
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)Pathogenic
Joubert syndrome and related disorders|not provided|Joubert syndrome 8
β˜…β˜…β˜†β˜†2024β†’ Residue 200
NM_001174150.2(ARL13B):c.1141+1G>ALikely pathogenic
Joubert syndrome 8
β˜…β˜…β˜†β˜†2024
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)Pathogenic
Joubert syndrome 8|Joubert syndrome and related disorders
β˜…β˜…β˜†β˜†2024β†’ Residue 200
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)Pathogenic
Joubert syndrome 8|Joubert syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 132
NM_001174150.2(ARL13B):c.932dup (p.Asn311fs)Pathogenic
Joubert syndrome 8
β˜…β˜…β˜†β˜†2024β†’ Residue 311
NM_001174150.2(ARL13B):c.550del (p.Tyr184fs)Pathogenic
Joubert syndrome 8
β˜…β˜…β˜†β˜†2024β†’ Residue 184
NM_001174150.2(ARL13B):c.73_74del (p.Leu25fs)Pathogenic
Joubert syndrome 8
β˜…β˜…β˜†β˜†2024β†’ Residue 25
NM_001174150.2(ARL13B):c.131-1G>TPathogenic
not provided|Joubert syndrome 8
β˜…β˜…β˜†β˜†2022
NM_001174150.2(ARL13B):c.822_823del (p.Asn277fs)Pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_001174150.2(ARL13B):c.235C>T (p.Arg79Trp)Likely pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2025β†’ Residue 79
NM_001174150.2(ARL13B):c.830del (p.Asn277fs)Pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_001174150.2(ARL13B):c.977del (p.Gln326fs)Pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2025β†’ Residue 326
NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter)Pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2024β†’ Residue 180
NM_001174150.2(ARL13B):c.381-1G>ALikely pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2024
NM_001174150.2(ARL13B):c.955_956insTAAT (p.Asn319fs)Likely pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2024β†’ Residue 319
NM_001174150.2(ARL13B):c.689+1G>TLikely pathogenic
Joubert syndrome 8
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q3SXY8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.51–0.89]
RankingsWhere ARL13B stands among ~20K protein-coding genes
  • #6,376of 20,598
    Most Researched74
  • #1,545of 5,498
    Most Pathogenic Variants40
  • #8,034of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedARL13B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ARL13B promotes angiogenesis and glioma growth by activating VEGFA-VEGFR2 signaling.
PMID: 36322624
Neuro Oncol Β· 2023
1.00
2
PMID: 20301500
0.90
3
Multiple ciliary localization signals control INPP5E ciliary targeting.
PMID: 36063381
Elife Β· 2022
0.80
4
Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain.
PMID: 38334651
Cells Β· 2024
0.70
5
A stress-induced cilium-to-PML-NB route drives senescence initiation.
PMID: 37019904
Nat Commun Β· 2023
0.60