CACNA1G
Homo sapiens
Gene Name: calcium channel, voltage-dependent, T type, alpha 1G subunit
Aliases: NBR13; Cav3.1; Ca(V)T.1; MGC117234
Chromosome No: 17
Chromosome Band: 17q21.33
Genetic Category: Genetic Association-Rare single gene variant-Syndromic
Aliases: NBR13; Cav3.1; Ca(V)T.1; MGC117234
Chromosome No: 17
Chromosome Band: 17q21.33
Genetic Category: Genetic Association-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 27
Recent Reports: 8
Annotated variants: 50
Associated CNVs: 6
Evidence score: 3
ASD Reports: 27
Recent Reports: 8
Annotated variants: 50
Associated CNVs: 6
Evidence score: 3
Gene Score: 4
Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the CACNA1G gene and autism in the AGRE cohort (Strom et al., 2010). Recently, a de novo synonymous variant in this gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012).
Molecular Function
Voltage-activated calcium channels
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
Support
Support for calcium channel gene defects in autism spectrum disorders.
ASD
Support
Rare variants in the outcome of social skills group training for autism
ASD
Support
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Epilepsy/seizures
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Early-onset cerebellar atrophy, cerebellar ataxia
DD, ID, epilepsy/seizures, autistic behavior
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
ID
Highly Cited
T-type calcium channel regulation by specific G-protein betagamma subunits.
Highly Cited
Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2) channels.
Highly Cited
Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant methylation of its 5' CpG island in human tumors.
Recent Recommendation
17Beta-estradiol regulation of the mRNA expression of T-type calcium channel subunits: role of estrogen receptor alpha and estrogen receptor beta.
Recent Recommendation
Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Cerebellar ataxia
Recent Recommendation
Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive.
Recent Recommendation
Three-dimensional structure of CaV3.1: comparison with the cardiac L-type voltage-gated calcium channel monomer architecture.
Recent Recommendation
Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence e...
Recent Recommendation
Rare coding variants in ten genes confer substantial risk for schizophrenia
Schizophrenia
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN034R020a
inframe_deletion
c.667_669del
p.Phe223del
Familial
Both parents
Multiplex
GEN034R021
missense_variant
c.3599A>G
p.Asn1200Ser
De novo
Unknown
GEN034R024
missense_variant
c.5144G>A
p.Arg1715His
Familial
Maternal and paternal
Multi-generational
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN034C001
intron_variant
rs757415
c.2302-3203C>T;c.2251-3203C>T
T to C
AGRE
Discovery
GEN034C002
intron_variant
rs12603112
c.2302-1483A>G;c.2251-1483A>G
G/A
AGRE
Discovery
GEN034C003
intron_variant
rs198550
c.1141-29A>G;c.1141-80A>G
A to G
AGRE
Discovery
GEN034C004
intron_variant
rs198555
c.2301+3918A>G;c.2250+3918A>G
A to G
AGRE
Discovery
GEN034C006
intron_variant
rs198538
c.243-3538C>T
T/C
2781 Caucasian parent/child trios (1103 from 543 AGRE families and 1678 from 1651 AGP families)
Discovery
GEN034C007
intron_variant
rs198545
c.243-620G>T
T/G
2781 Caucasian parent/child trios (1103 from 543 AGRE families and 1678 from 1651 AGP families)
Discovery
GEN034C008
intron_variant
rs198540
c.243-2430T>C
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery