CACNA1B
Homo sapiens
Gene Name: calcium voltage-gated channel subunit alpha1 B
Aliases: BIII, CACNL1A5, CACNN, Cav2.2
Chromosome No: 9
Chromosome Band: 9q34.3
Genetic Category: Genetic association-Rare single gene variant-Syndromic
Aliases: BIII, CACNL1A5, CACNN, Cav2.2
Chromosome No: 9
Chromosome Band: 9q34.3
Genetic Category: Genetic association-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 14
Recent Reports: 0
Annotated variants: 38
Associated CNVs: 6
Evidence score: 3
ASD Reports: 14
Recent Reports: 0
Annotated variants: 38
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
In a study of 20 unrelated children with variable phenotypes found to have gains in DNA copy number in the subtelomeric 9q34 region, seven were found to carry monogenic duplications encompassing the CACNA1B gene. Four of these children with monogenic CACNA1B duplications were diagnosed with ASD (Yatensko et al., 2012).
Molecular Function
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
ASD, DD, ID
Positive Association
Strong synaptic transmission impact by copy number variations in schizophrenia.
SCZ
Positive Association
Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for o...
SCZ, BPD
Support
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing
Pediatric Acute-Onset Neuropsychiatric Syndrome (P
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
DD, epilepsy/seizures
Developmental regression, microcephaly, hypotonia
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN408R019a
frameshift_variant
c.3665del
p.Leu1222ArgfsTer29
Familial
Both parents
Multiplex
GEN408R020a
frameshift_variant
c.3573_3574del
p.Gly1192CysfsTer5
Familial and unknown
Maternal and unknown
Multiplex
GEN408R020b
splice_site_variant
c.4857+1G>C
Familial and unknown
Maternal and unknown
Multiplex
GEN408R028
missense_variant
c.3370A>G
p.Ile1124Val
Familial
Maternal
Simplex
Common
No Common Variants Available
