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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ASTN2
astrotactin 2
Chromosome 9 Β· 9q33.1
NCBI Gene: 23245Ensembl: ENSG00000148219.18HGNC: HGNC:17021UniProt: B3KN99
44PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium ion bindinginositol 1,3,4,5 tetrakisphosphate bindingneuron migrationneuron cell-cell adhesionBardet-Biedl syndromeautosomal recessive limb-girdle muscular dystrophy type 2HBardet-Biedl syndrome 11autosomal recessive limb-girdle muscular dystrophy
✦AI Summary

ASTN2 (astrotactin 2) is a transmembrane neuronal protein that plays crucial roles in neurodevelopment and synaptic function. ASTN2 mediates neuronal cell adhesion and migration processes, particularly in cerebellar development where it is highly expressed 1. The protein undergoes intramembrane proteolysis in its second transmembrane domain, which appears to be important for its maturation and function 2. ASTN2 regulates cerebellar Purkinje cell synaptic activity and dendritic spine morphology, with knockout mice displaying autism spectrum disorder (ASD)-related behaviors including hyperactivity, repetitive behaviors, and impaired social interactions 1. Loss of ASTN2 function leads to alterations in mitochondrial dynamics through regulation of ZNF558 and subsequent effects on mitophagy-related gene SPATA18 3. Clinically, ASTN2 variants are associated with multiple neurodevelopmental and psychiatric conditions. Mutations have been identified in individuals with intellectual disability, ASD, and ADHD 45. Additionally, ASTN2 polymorphisms influence pain sensitivity and opioid requirements in surgical patients, suggesting broader physiological roles 6. The gene shows genetic correlations with schizophrenia risk, indicating shared pathogenic mechanisms across psychiatric disorders 7. These findings establish ASTN2 as an important regulator of neuronal function with significant clinical implications for neurodevelopmental disorders.

Sources cited
1
ASTN2 is highly expressed in cerebellum, regulates Purkinje cell synaptic activity, and knockout mice show ASD-related behaviors
PMID: 39150780
2
ASTN2 undergoes intramembrane proteolysis in its second transmembrane domain during maturation
PMID: 28100779
3
ASTN2 deletion affects mitochondrial dynamics through ZNF558 and SPATA18 regulation
PMID: 38830862
4
ASTN2 mutations are associated with intellectual disability
PMID: 28940097
5
ASTN2 variants are associated with ADHD and comorbid disorders
PMID: 27138430
6
ASTN2 polymorphisms influence pain sensitivity and opioid requirements
PMID: 33476460
7
ASTN2 shows genetic correlation with schizophrenia risk
PMID: 28540026
Disease Associationsβ“˜20
Bardet-Biedl syndromeOpen Targets
0.55Moderate
autosomal recessive limb-girdle muscular dystrophy type 2HOpen Targets
0.55Moderate
Bardet-Biedl syndrome 11Open Targets
0.52Moderate
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.46Moderate
osteoarthritis, hipOpen Targets
0.44Moderate
migraine disorderOpen Targets
0.42Moderate
major depressive disorderOpen Targets
0.39Weak
Retinal dystrophyOpen Targets
0.39Weak
total hip arthroplastyOpen Targets
0.38Weak
restless legs syndromeOpen Targets
0.37Weak
HeadacheOpen Targets
0.37Weak
smoking initiationOpen Targets
0.35Weak
myopathyOpen Targets
0.34Weak
ShockOpen Targets
0.33Weak
breast carcinomaOpen Targets
0.33Weak
Elevated circulating creatine kinase concentrationOpen Targets
0.33Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.33Weak
multisite chronic painOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.33Weak
PainOpen Targets
0.32Weak
Pathogenic Variants2
NC_000009.12:g.(?_116611967)_(116683530_?)delLikely pathogenic
Autism
β˜…β˜†β˜†β˜†2018
GRCh38/hg38 9q33.1(chr9:116747886-116862759)x1Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2013
View on ClinVar β†—
Related Genes
FRKProtein interaction100%RPAP2Protein interaction100%COP1Protein interaction84%KPNA5Protein interaction82%WDPCPProtein interaction82%BLOC1S6Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Heart
23%
Ovary
16%
Liver
14%
Lung
7%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
ASTN2FRKRPAP2COP1KPNA5WDPCPBLOC1S6
PROTEIN STRUCTURE
Preparing viewer…
PDB5J67 Β· 3.16 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.47Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.37 [0.30–0.47]
RankingsWhere ASTN2 stands among ~20K protein-coding genes
  • #9,560of 20,598
    Most Researched44
  • #4,454of 5,498
    Most Pathogenic Variants2
  • #2,727of 17,882
    Most Constrained (LOEUF)0.47 Β· top quartile
Genes detectedASTN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Expanding the genetic heterogeneity of intellectual disability.
PMID: 28940097
Hum Genet Β· 2017
1.00
2
Mice lacking
PMID: 39150780
Proc Natl Acad Sci U S A Β· 2024
0.90
3
Analysis of human neuronal cells carrying ASTN2 deletion associated with psychiatric disorders.
PMID: 38830862
Transl Psychiatry Β· 2024
0.80
4
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
PMID: 28540026
Mol Autism Β· 2017
0.70
5
Chimeric RNA ASTN2-PAPPA
PMID: 33388371
Cancer Lett Β· 2021
0.60