CACNA1H
Homo sapiens
Gene Name: calcium channel, voltage-dependent, alpha 1H subunit
Aliases: T-type Ca(V)3.2 channels, CACNA1HB
Chromosome No: 16
Chromosome Band: 16p13.3
Genetic Category: Rare Single Gene variant-Rare single gene variant/Functional
Aliases: T-type Ca(V)3.2 channels, CACNA1HB
Chromosome No: 16
Chromosome Band: 16p13.3
Genetic Category: Rare Single Gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 34
Recent Reports: 13
Annotated variants: 65
Associated CNVs: 4
Evidence score: 4
ASD Reports: 34
Recent Reports: 13
Annotated variants: 65
Associated CNVs: 4
Evidence score: 4
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the CACNA1H gene have been identified with autism. In one study, missense mutations in CACNA1H were found in 6 of 461 individuals with ASD (Splawski et al., 2006).
Molecular Function
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Expanding the Phenotypic Spectrum of CACNA1H Mutations.
Epilepsy/seizures
ASD, ADHD, DD
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
DD, ID, epilepsy/seizures
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
DD, ID
Epilepsy/seizures
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
ASD
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
ID
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Microcephaly
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
ID
Highly Cited
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.
Recent Recommendation
The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2 channels: a paradigm for childhood absence epilepsy mutations.
Recent Recommendation
A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygeni...
Recent Recommendation
Protein kinase A activity controls the regulation of T-type CaV3.2 channels by Gbetagamma dimers.
Recent Recommendation
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
ASD
Recent Recommendation
Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Activation of corticotropin-releasing factor receptor 1 selectively inhibits CaV3.2 T-type calcium channels.
Recent Recommendation
Transcriptional regulation of T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and repressor element 1 (RE-1) pro...
Recent Recommendation
CaV3.2 T-type calcium channels are involved in calcium-dependent secretion of neuroendocrine prostate cancer cells.
Recent Recommendation
A Ca(v)3.2/syntaxin-1A signaling complex controls T-type channel activity and low-threshold exocytosis.
Recent Recommendation
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Recent Recommendation
ACTH induces Cav3.2 current and mRNA by cAMP-dependent and cAMP-independent mechanisms.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN035R001
missense_variant
c.634C>T
p.Arg212Cys
Familial
Maternal
Multiplex
GEN035R002
missense_variant
c.2704C>T
p.Arg902Trp
Familial
Maternal
Simplex
GEN035R003
missense_variant
c.2886G>T
p.Trp962Cys
Unknown
Not maternal
Multiplex
GEN035R004a
missense_variant
c.5612G>A
p.Arg1871Gln
Familial
Paternal
Multiplex
GEN035R004b
missense_variant
c.5621C>T
p.Ala1874Val
Familial
Paternal
Multiplex
GEN035R016
inframe_deletion
TATCATCA>TATCA
De novo
Unknown
GEN035R036a
missense_variant
c.6371C>T
p.Pro2124Leu
Familial
Maternal
Multiplex (monozygotic twins)
GEN035R036b
missense_variant
c.7013C>T
p.Ser2338Phe
Familial
Paternal
Multiplex (monozygotic twins)
GEN035R045
frameshift_variant
c.6727dup
p.Asp2243GlyfsTer17
Familial
Maternal
GEN035R046
missense_variant
c.1508G>A
p.Arg503His
Familial
Maternal
Simplex
Common
No Common Variants Available
