ROBO2
Homo sapiens
Gene Name: roundabout guidance receptor 2
Aliases: SAX3
Chromosome No: 3
Chromosome Band: 3p12.3
Genetic Category: Functional-Rare single gene variant-Genetic association-
Aliases: SAX3
Chromosome No: 3
Chromosome Band: 3p12.3
Genetic Category: Functional-Rare single gene variant-Genetic association-
Summary Statistics:
ASD Reports: 10
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 5
Evidence score: 2
ASD Reports: 10
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A novel recurrent deletion involving the ROBO2 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Molecular Function
The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Positive Association
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
ASD
Positive Association
Common variation near ROBO2 is associated with expressive vocabulary in infancy.
Expressive vocabulary
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Learning disability, behavioral abnormalities
Multiple congenital anomalies
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism.
ASD
Recent Recommendation
Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN493R003
missense_variant
c.2518C>T
p.Arg840Cys
De novo
Unknown
GEN493R009
stop_gained
c.3214A>T
p.Lys1072Ter
Familial
Maternal
Extended multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN493C001
downstream_gene_variant
rs7642482
G/A
Meta-analysis of combined discovery (N=6851) and follow-up (N=2038) samples: toddlers of European descent from Early Genetics and Lifecourse Epidemiology consortium
Combined discovery and replication
GEN493C002
intron_variant
rs9870610
c.437-96606C>T;c.389-96606C>T;c.-1530-96606C>T;.458-96606C>T
Autism Genome Project (AGP) family trio data set of 2931 families
Discovery
