ADCY5
Homo sapiens
Gene Name: Adenylate cyclase 5
Aliases: AC5, FDFM
Chromosome No: 3
Chromosome Band: 3q21.1
Genetic Category: Rare Single Gene variant
Aliases: AC5, FDFM
Chromosome No: 3
Chromosome Band: 3q21.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 0
Annotated variants: 16
Associated CNVs: 4
Evidence score: 3
ASD Reports: 10
Recent Reports: 0
Annotated variants: 16
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b)
Molecular Function
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Movement disorder
Ataxia, chorea, dystonia, tremor
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN470R003
frameshift_variant
del(T)
p.Gln321ArgfsTer56
Familial
Paternal
Simplex
GEN470R004
synonymous_variant
c.2667C>T
p.Gly889=
De novo
Unknown
Common
No Common Variants Available
