ASTN2
Homo sapiens
Gene Name: astrotactin 2
Aliases: RP11-45A16.2, KIAA0634, bA67K19.1
Chromosome No: 9
Chromosome Band: 9q33.1
Genetic Category: Rare Single Gene variant-Rare single gene variant/multigenic CNV-Genetic association-Rare single gene variant/Functional-Functional
Aliases: RP11-45A16.2, KIAA0634, bA67K19.1
Chromosome No: 9
Chromosome Band: 9q33.1
Genetic Category: Rare Single Gene variant-Rare single gene variant/multigenic CNV-Genetic association-Rare single gene variant/Functional-Functional
Summary Statistics:
ASD Reports: 20
Recent Reports: 6
Annotated variants: 37
Associated CNVs: 5
Evidence score: 2
ASD Reports: 20
Recent Reports: 6
Annotated variants: 37
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Association has been found between the ASTN2 gene and autism. Glessner et al. (2009) identified a rare ASTN2 deletion in an autism case. Another study found a link between rare ASTN2 CNVs and schizophrenia.
Molecular Function
This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
ASD
Positive Association
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 ...
ASD
Positive Association
Novel genetic loci associated with hippocampal volume.
Hippocampal volume
Support
Identification of candidate intergenic risk loci in autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD
Support
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
ASD, ADHD, DD, ID
Support
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Childhood apraxia of speech
DD
Support
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
ASD
Support
Expanding the genetic heterogeneity of intellectual disability.
DD
Dysmorphic features
Highly Cited
Astrotactin: a novel neuronal cell surface antigen that mediates neuron-astroglial interactions in cerebellar microcultures.
Recent Recommendation
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
Recent Recommendation
Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration.
Recent Recommendation
Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
SCZ
Recent Recommendation
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
Recent recommendation
ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins.
ADHD
ASD, ID, epilepsy/seizures
Recent Recommendation
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
ASD
ADHD, DD, ID, epilepsy, OCD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN020R011
missense_variant
c.3522C>A
p.Leu1141Met
Familial
Maternal
Unknown
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN020C001
intron_variant
rs7020341
c.653+1664C>G;c.3344+1664C>G;c.800+1664C>G;c.3497+1664C>G
26,700 European individuals with high-resolution MRI brain scans and genome-wide genotyping data from the ENIGMA Consortium and the CHARGE Consortium
Discovery
GEN020C002
intron_variant
rs146737360
c.512-46957C>A;c.3203-46957C>A;c.659-46957C>A;c.3356-46957C>A
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
GEN020C003
intergenic_variant
rs7026354
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
