GUCY1A2
Homo sapiens
Gene Name: guanylate cyclase 1 soluble subunit alpha 2
Aliases: GC-SA2, GUC1A2
Chromosome No: 11
Chromosome Band: 11q22.3
Genetic Category: Genetic association-Rare single gene variant
Aliases: GC-SA2, GUC1A2
Chromosome No: 11
Chromosome Band: 11q22.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP within the GUCY1A2 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN400C001
intron_variant
rs11211996
c.304-1818A>G
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
