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Relevance to Autism

Three rare missense variants in the CACNB2 gene were identified in ASD probands from the Autism Genetic Resource Exchange (AGRE); while these variants showed incomplete segregation with ASD in the probands' respective families, all three variants altered time-dependent inactivation of Ca2+ channels in whole-cell patch-clamp recordings of HEK293 cells expressing mutant CACNB2 (Breitenkamp et al., 2014).

Molecular Function

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. Mutations in this gene are associated with Brugada syndrome 4 (BRGDA4) [MIM:611876], a heart disease characterized by the association of Brugada syndrome with shortened QT intervals.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.
ASD
Epilepsy
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
ASD, ADHD, BPD, MDD, SCZ
Support
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
ASD, DD, ID
Support
Autism-associated mutations in the CaV2 calcium-channel subunit increase Ba2+-currents and lead to differential modulation by the RGK-protein Gem.
ASD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
ASD
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN612R001 
 missense_variant 
 c.334G>A 
 p.Gly167Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN612R002 
 missense_variant 
 c.425C>T 
 p.Ser142Phe 
 Familial 
 Paternal 
 Multiplex 
 GEN612R003 
 missense_variant 
 c.553T>C 
 p.Phe240Leu 
 Familial 
 Paternal 
 Multiplex 
 GEN612R004 
 missense_variant 
 c.5T>A 
 p.Val2Asp 
 De novo 
  
 Multiplex 
 GEN612R005a 
 missense_variant 
 c.208C>T 
 p.Arg70Cys 
 Familial 
 Both parents 
 Simplex 
 GEN612R006 
 missense_variant 
 c.1495C>G 
 p.Gln499Glu 
 Unknown 
  
  
 GEN612R007 
 missense_variant 
 G>C 
 p.Asp183His 
 Familial 
 Maternal 
  
 GEN612R008a 
 missense_variant 
 c.675G>T 
 p.Lys225Asn 
 Familial 
 Maternal 
  
 GEN612R008b 
 missense_variant 
 c.1192C>T 
 p.Leu398Phe 
 Familial 
 Maternal 
  
 GEN612R009 
 missense_variant 
 c.1652G>C 
 p.Arg551Thr 
 Familial 
 Paternal 
  
 GEN612R010 
 missense_variant 
 c.1975C>T 
 p.Arg659Cys 
 Familial 
 Paternal 
 Simplex 
 GEN612R011 
 synonymous_variant 
 c.123A>G 
 p.Ser41= 
 De novo 
  
  
 GEN612R012 
 missense_variant 
 c.1246C>T 
 p.Leu416Phe 
 De novo 
  
  
 GEN612R013 
 splice_site_variant 
 c.169-1G>A 
  
 Familial 
 Paternal 
 Multiplex 
 GEN612R014 
 inframe_deletion 
 c.1807_1821del 
 p.Glu604_Arg608del 
 Unknown 
  
  
 GEN612R015 
 missense_variant 
 c.1124C>T 
 p.Ala375Val 
 Unknown 
  
  
 GEN612R016 
 splice_site_variant 
 c.121-2_125delinsTTAATT 
  
 Unknown 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN612C001 
 intron_variant 
 rs2799573 
 c.48+51682T>C;c.130-88925T>C;c.214-88925T>C 
 T/C 
 Pyschiatrics Genomic Consortium (PGC): 33,332 cases (with ASD, ADHD, bipolar disorder, major depressive disorder, and schizophrenia) and 27,888 controls 
 Discovery 
 GEN612C002 
 intron_variant 
 rs7893279 
 c.169-42179T>G;c.250-42179T>G;c.190-42179T>G;c.172-42179T>G;c.334-42179T>G 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Deletion-Duplication
 9
 
10
Deletion
 1
 
10
Deletion
 3
 
10
Deletion-Duplication
 1
 
10
Duplication
 2
 
10
Duplication
 1
 
10
Duplication
 2
 
10
Duplication
 1
 

No Animal Model Data Available





Download CACNB2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 775 Q13936 IP/WB; FRET
Lao QZ , et al. 2010
CACNB1 calcium channel, voltage-dependent, beta 1 subunit 775 Q13936 IP; LC-MS/MS
Huttlin EL , et al. 2015
CACNB3 calcium channel, voltage-dependent, beta 3 subunit 784 P54284 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
RAD1 RAD1 homolog (S. pombe) 5810 O60671 IP/WB
Finlin BS , et al. 2003
REM1 GTP-binding protein REM 1 28954 O75628 IP/WB
Finlin BS , et al. 2003
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 5566 P17612 Electrophysiology; IP/WB
Bnemann M , et al. 1999

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