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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
Chromosome 3 · 3p21.31
NCBI Gene: 10425Ensembl: ENSG00000177479.21HGNC: HGNC:690UniProt: O95376
80PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Cul5-RING ubiquitin ligase complexubiquitin-protein transferase activityprotein bindingpositive regulation of protein localization to mitochondrionneurodegenerative diseaseautism spectrum disordermyoepithelial tumorhepatocellular carcinoma
✦AI Summary

ARIH2 (ariadne RBR E3 ubiquitin protein ligase 2) is a RING-between-RING (RBR) E3 ubiquitin ligase that catalyzes protein ubiquitination and degradation through proteasomal pathways 1. The protein functions primarily as a negative regulator in multiple cellular processes by targeting proteins for degradation. ARIH2 operates through cullin-5-RING E3 ligase complexes (CRL5), where neddylation of CUL5 exposes ARIH2 binding sites and relieves its autoinhibition, enabling substrate ubiquitination 2. In immune regulation, ARIH2 controls IL-15 receptor signaling by mediating IL-15RB degradation, limiting natural killer cell activation and anti-tumor immunity 3. The ligase also regulates NLRP3 inflammasome activity by targeting the nucleotide-binding domain, inhibiting inflammasome assembly 4. In metabolic processes, ARIH2 contributes to muscle differentiation regulation through the FoxP1-Arih2 axis and protects PPARγ from degradation in brown adipose tissue development 56. ARIH2 generally exhibits tumor suppressive functions across various cancers 1. A de novo mutation in ARIH2 has been associated with autism spectrum disorder and intellectual disability, suggesting roles in neurodevelopment 7. Knockout of ARIH2 enhances NK cell anti-tumor activity, making it a potential immunotherapy target 8.

Sources cited
1
ARIH2 is an RBR E3 ligase that catalyzes ubiquitination and has tumor suppressive functions
PMID: 32442483
2
ARIH2 functions through CRL5 complexes where neddylation activates the ligase by relieving autoinhibition
PMID: 33268465
3
ARIH2 mediates IL-15RB degradation and limits NK cell activation
PMID: 40513576
4
ARIH2 targets NLRP3 inflammasome NBD domain to inhibit inflammasome assembly
PMID: 40152367
5
ARIH2 is regulated by the FoxP1-Arih2 axis in muscle differentiation
PMID: 36564038
6
ARIH2 can degrade PPARγ in brown adipose tissue development
PMID: 40355558
7
De novo ARIH2 mutation associated with autism spectrum disorder and intellectual disability
PMID: 38982159
8
ARIH2 knockout enhances NK cell anti-tumor activity
PMID: 40845844
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
autism spectrum disorderOpen Targets
0.26Weak
myoepithelial tumorOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
schizophreniaOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
nicotine dependenceOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
anorexia nervosaOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
obsessive-compulsive disorderOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
glaucomaOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.05Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
immunodeficiency 51Open Targets
0.05Suggestive
acne inversa, familial, 3Open Targets
0.04Suggestive
Pathogenic Variants1
NM_006321.4(ARIH2):c.1411-3C>TLikely pathogenic
Autism spectrum disorder
☆☆☆☆
View on ClinVar ↗
Related Genes
ELOBProtein interaction100%ELOCProtein interaction100%ASB9Protein interaction100%NEDD8Protein interaction94%CUL5Protein interaction94%RNF7Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Lung
50%
Bone Marrow
49%
Liver
43%
Ovary
42%
Brain
36%
Gene Interaction Network
Click a node to explore
ARIH2ELOBELOCASB9NEDD8CUL5RNF7
PROTEIN STRUCTURE
Preparing viewer…
PDB7OD1 · 2.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.14 [0.08–0.24]
RankingsWhere ARIH2 stands among ~20K protein-coding genes
  • #5,922of 20,598
    Most Researched80
  • #4,963of 5,498
    Most Pathogenic Variants1
  • #718of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedARIH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide CRISPR screens identify critical targets to enhance CAR-NK cell antitumor potency.
PMID: 40845844
Cancer Cell · 2025
1.00
2
Enhancing anti-tumor immunity of natural killer cells through targeting IL-15R signaling.
PMID: 40513576
Cancer Cell · 2025
0.90
3
Pyruvate dehydrogenase B regulates myogenic differentiation via the FoxP1-Arih2 axis.
PMID: 36564038
J Cachexia Sarcopenia Muscle · 2023
0.80
4
RBR E3 ubiquitin ligases in tumorigenesis.
PMID: 32442483
Semin Cancer Biol · 2020
0.70
5
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability.
PMID: 38982159
Sci Rep · 2024
0.60