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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
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
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
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
 GEN493R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN493R002 
 copy_number_loss 
  
  
 Unknown 
 Unknown 
 Multiplex 
 GEN493R003 
 missense_variant 
 c.2518C>T 
 p.Arg840Cys 
 De novo 
 NA 
 Unknown 
 GEN493R004 
 intergenic_variant 
 c.110-110851T>A 
  
  
  
 Unknown 
 GEN493R005 
 intergenic_variant 
 c.109+428168T>C 
  
  
  
 Unknown 
 GEN493R006 
 translocation 
  
  
 De novo 
 NA 
  

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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 21
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B 84152 Q9UD71 Y2H
Stelzl U , et al. 2005
Akap5 A kinase (PRKA) anchor protein 5 238276 D3YVF0 IP; LC-MS/MS; Co-localization; IP/WB; in vitro binding assay
Samelson BK , et al. 2015
Ppp3cb protein phosphatase 3, catalytic subunit, beta isozyme 19056 P48453 IP/WB
Samelson BK , et al. 2015
Prkar2a protein kinase, cAMP dependent regulatory, type II alpha 19087 P12367 IP/WB
Samelson BK , et al. 2015
Prkca protein kinase C, alpha 18750 P20444 IP/WB
Samelson BK , et al. 2015

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