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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
Support
The contribution of de novo coding mutations to autism spectrum disorder.
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 
 GEN105R003 
 missense_variant 
 c.2254G>A 
 p.Ala752Thr 
 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 Bioluminescence resonance energy transfer assay
Gals C , et al. 2005
C1QBP complement component 1, q subcomponent binding protein 708 Q07021 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CPT2 carnitine palmitoyltransferase 2 1376 P23786 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNA12 guanine nucleotide binding protein (G protein) alpha 12 2768 B3KXS2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type NM_002071 A8K1Y9 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 2782 P62873 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 2783 P62879 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 59345 Q9HAV0 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNG4 guanine nucleotide binding protein (G protein), gamma 4 2786 B1APZ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNG5 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 2787 P63218 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAGED2 melanoma antigen family D, 2 10916 Q9UNF1 IP; LC-MS/MS
Huttlin EL , et al. 2015
METAP2 methionyl aminopeptidase 2 10988 P50579 IP; LC-MS/MS
Huttlin EL , et al. 2015
NAP1L1 nucleosome assembly protein 1-like 1 4673 P55209 IP; LC-MS/MS
Huttlin EL , et al. 2015
OCIAD1 OCIA domain containing 1 54940 Q9NX40 IP; LC-MS/MS
Huttlin EL , et al. 2015
RIC8B resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) 55188 Q9NVN3 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 8604 O75746 LC-MS/MS
Havugimana PC , et al. 2012
CHRNA7 cholinergic receptor, nicotinic, alpha polypeptide 7 11441 P49582 Affinity chromatography; LC-MS/MS; IP/WB
King JR , et al. 2015
SNX14 sorting nexin 14 244962 Q8BHY8 IP/WB; in vitro binding assay
Ha CM , et al. 2015

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