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Relevance to Autism

SNPs have been identified in the GNAS gene in a screening of autistic, OCD and ADHD patients (Kim et al., 2000). In addition, a rare mutation in the GNAS gene has been identified in an individual with ASD (Sanders et al., 2012).

Molecular Function

The encoded protein has GTPase activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1.
ASD
OCD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Highly Cited
An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus.
Recent Recommendation
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN105R001 
 inframe_deletion 
 c.1242_1265del24 
 N/A 
 Familial 
 Maternal 
  
 GEN105R002 
 missense_variant 
 c.510C>G 
 p.Ile170Met 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN105C001 
 upstream_gene_variant 
  
 A797G 
  
 Caucasian, African-American, Hispanic 
 Discovery 
 GEN105C002 
 synonymous_variant 
  
 c.1031C>T 
 p.(=) 
 Caucasian, African-American, Hispanic 
 Discovery 
 GEN105C003 
 synonymous_variant 
  
 c.1142C>T 
 p.(=) 
 Caucasian, African-American, Hispanic 
 Discovery 
 GEN105C004 
 synonymous_variant 
  
 c.1235C>T 
 p.(=) 
 Caucasian, African-American, Hispanic 
 Discovery 
 GEN105C005 
 intron_variant 
  
 C1649T 
 N/A 
 Caucasian, African-American, Hispanic 
 Discovery 
 GEN105C006 
 intron_variant 
  
 A1682G 
 N/A 
 Caucasian, African-American, Hispanic 
 Discovery 

No Gene Score Data Available

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ADRB2 adrenergic, beta-2-, receptor, surface 154 P07550 Galés C 2005
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J 2015
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 8604 O75746 Havugimana PC 2012

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