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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, mutation of the CACNA1C gene has been found to be associated with Timothy syndrome, patients which all also fall under the category of ASD. In addition, several studies have shown a genetic association between the CACNA1C gene and schizophrenia as well as bipolar disorder.

Molecular Function

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. 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
Primary
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
Timothy syndrome
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism.
ASD
Positive Association
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
ASD, ADHD, BPD, MDD, SCZ
Positive Association
Genome-wide association study identifies five new schizophrenia loci.
SCZ, BPD
Negative Association
Association Study of Sequence Variants in Voltage-gated Ca2+ Channel Subunit Alpha-1C and Autism Spectrum Disorders.
ASD
Support
Genetic Variation in the Psychiatric Risk Gene CACNA1C Modulates Reversal Learning Across Species.
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
ID
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID, epilepsy/seizures
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Integrating de novo and inherited variants in 42
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, ID, PDD
Support
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.
DD
Support
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...
ASD
ID, epilepsy
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
ASD, DD
Support
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.
Timothy syndrome
Support
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Support
Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder
SCZ
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
ASD
Support
DD, ID, epilepsy/seizures
ADHD
Support
An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior.
Support
Support for calcium channel gene defects in autism spectrum disorders.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Timothy syndrome, DD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.
Support
Involvement of Calcium-Dependent Pathway and β Subunit-Interaction in Neuronal Migration and Callosal Projection Deficits Caused by the Cav1.2 I1166T Mutation in Developing Mouse Neocortex
Timothy syndrome
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder
Timothy syndrome, DD
ASD, ADHD, epilepsy/seizures
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
ID, epilepsy/seizures, speech delay
Stereotypies
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Novel Timothy syndrome mutation leading to increase in CACNA1C window current
Timothy syndrome, epilepsy/seizures
Support
The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome
Timothy syndrome
ASD
Highly Cited
N-methyl-D-aspartate receptor-induced proteolytic conversion of postsynaptic class C L-type calcium channels in hippocampal neurons.
Highly Cited
A beta2 adrenergic receptor signaling complex assembled with the Ca2 channel Cav1.2.
Recent Recommendation
Genetic variation in CACNA1C affects brain circuitries related to mental illness.
SCZ
Recent Recommendation
A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CAC...
Timothy syndrome
BPD
Recent Recommendation
The tumor suppressor eIF3e mediates calcium-dependent internalization of the L-type calcium channel CaV1.2.
Recent Recommendation
The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.
Recent Recommendation
Association of genetic variation in CACNA1C with bipolar disorder in Han Chinese.
Recent Recommendation
AKAP79/150 anchoring of calcineurin controls neuronal L-type Ca2 channel activity and nuclear signaling.
Recent Recommendation
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
DD
ASD, ID, epilepsy/seizures
Recent Recommendation
Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for o...
BPD
Recent Recommendation
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long...
Recent Recommendation
Neuronal localization of Ca(v)1.2 L-type calcium channels in the rat basolateral amygdala.
Recent Recommendation
A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration.
Recent Recommendation
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
BPD
Recent Recommendation
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons.
Recent Recommendation
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Timothy syndrome
Recent Recommendation
The Neuropsychiatric Disease-Associated Gene cacna1c Mediates Survival of Young Hippocampal Neurons.
Recent Recommendation
beta-Adrenergic receptor activation induces internalization of cardiac Cav1.2 channel complexes through a beta-arrestin 1-mediated pathway.
Recent Recommendation
-Adrenergic receptor activation induces internalization of cardiac Cav1.2 channel complexes through a -arrestin 1-mediated pathway.
Recent Recommendation
Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons.
Recent Recommendation
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.
Recent Recommendation
The Cav subunit prevents RFP2-mediated ubiquitination and proteasomal degradation of L-type channels.
Recent Recommendation
CACNA1C risk variant affects reward responsiveness in healthy individuals.
Recent Recommendation
Conditional forebrain deletion of the L-type calcium channel Ca V 1.2 disrupts remote spatial memories in mice.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN031R001 
 missense_variant 
 c.1216G>A 
 p.Gly406Arg 
 De novo 
  
 Simplex, multiplex 
 GEN031R002 
 missense_variant 
 c.718C>T 
 p.Arg240Cys 
 Familial 
 Maternal 
 Simplex 
 GEN031R003 
 missense_variant 
 c.911T>C 
 p.Ile304Thr 
 Familial 
  
 Simplex 
 GEN031R004 
 missense_variant 
 c.1468G>A 
 p.Gly490Arg 
 Familial 
  
 Simplex 
 GEN031R005 
 missense_variant 
 c.2437G>A 
 p.Gly813Arg 
 Familial 
 Paternal 
 Simplex 
 GEN031R006 
 missense_variant 
 c.2449C>T 
 p.Pro817Ser 
 Familial 
 Maternal (1 case) 
 Simplex 
 GEN031R007 
 missense_variant 
 c.2807T>G 
 p.Phe936Cys 
 Familial 
  
 Simplex 
 GEN031R008 
 missense_variant 
 c.4966G>A 
 p.Ala1656Thr 
 Familial 
  
 Simplex 
 GEN031R009 
 missense_variant 
 c.5242G>A 
 p.Gly1748Ser 
 Familial 
 Maternal (1 case) 
 Simplex 
 GEN031R010 
 missense_variant 
 c.5293G>A 
 p.Ala1765Thr 
 Familial 
 Paternal 
 Simplex 
 GEN031R011 
 missense_variant 
 c.5527G>A 
 p.Gly1843Arg 
 Familial 
  
 Simplex 
 GEN031R012 
 missense_variant 
 c.5558T>C 
 p.Leu1853Pro 
 Familial 
 Paternal 
 Simplex 
 GEN031R013 
 missense_variant 
 c.5809C>T 
 p.Leu1937Phe 
 Familial 
 Maternal (1 case) 
 Simplex 
 GEN031R014 
 missense_variant 
 c.6184G>A 
 p.Val2062Ile 
 Familial 
 Paternal 
 Simplex 
 GEN031R015 
 synonymous_variant 
 c.906G>A 
 p.Glu302= 
 Unknown 
  
 Unknown 
 GEN031R016 
 synonymous_variant 
 c.2637G>A 
 p.Ala879= 
 Unknown 
  
 Unknown 
 GEN031R017 
 synonymous_variant 
 c.4761G>A 
 p.Ala1587= 
 Unknown 
  
 Unknown 
 GEN031R018 
 synonymous_variant 
 c.5292C>T 
 p.Ser1764= 
 Unknown 
  
 Unknown 
 GEN031R019 
 synonymous_variant 
 c.5097C>T 
 p.Ala1699= 
 Unknown 
  
 Unknown 
 GEN031R020 
 synonymous_variant 
 c.5478G>A 
 p.Ala1826= 
 Unknown 
  
 Unknown 
 GEN031R021 
 intron_variant 
 C>A 
  
 Unknown 
  
 Unknown 
 GEN031R022 
 missense_variant 
 c.4565G>A 
 p.Arg1522Gln 
 Familial 
 Paternal 
 Simplex 
 GEN031R023 
 missense_variant 
 c.1204G>A 
 p.Gly402Ser 
 De novo 
  
 Simplex 
 GEN031R024 
 missense_variant 
 c.4706C>T 
 p.Pro1569Leu 
 Unknown 
  
 Unknown 
 GEN031R025 
 missense_variant 
 c.6272A>G 
 p.Asn2091Ser 
 Unknown 
 Not maternal 
  
 GEN031R026 
 missense_variant 
 c.3544G>C 
 p.Val1182Leu 
 De novo 
  
 Simplex 
 GEN031R027 
 missense_variant 
 c.3416G>A 
 p.Arg1139His 
 Unknown 
  
 Multiplex or multi-generational 
 GEN031R028 
 initiator_codon_variant 
 c.2T>C 
  
 Unknown 
  
 Unknown 
 GEN031R029 
 missense_variant 
 c.6055G>A 
 p.Val2019Ile 
 Familial 
 Maternal 
 Simplex 
 GEN031R030 
 translocation 
  
  
 De novo 
  
  
 GEN031R031 
 splice_region_variant 
 c.3156+6G>C 
  
 Unknown 
  
 Unknown 
 GEN031R032 
 inframe_insertion 
 c.1978_1983dup 
 p.Leu660_Phe661dup 
 De novo 
  
  
 GEN031R033 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN031R034 
 missense_variant 
 c.496T>C 
 p.Phe166Leu 
 De novo 
  
  
 GEN031R035 
 missense_variant 
 c.530A>G 
 p.Lys177Arg 
 De novo 
  
  
 GEN031R036 
 missense_variant 
 c.970C>T 
 p.Arg324Trp 
 De novo 
  
  
 GEN031R037 
 missense_variant 
 c.1207G>A 
 p.Val403Met 
 De novo 
  
  
 GEN031R038 
 missense_variant 
 c.1802T>G 
 p.Leu601Arg 
 De novo 
  
  
 GEN031R039 
 missense_variant 
 c.1832T>C 
 p.Met611Thr 
 De novo 
  
  
 GEN031R040 
 missense_variant 
 c.1841T>G 
 p.Leu614Arg 
 De novo 
  
  
 GEN031R041 
 missense_variant 
 c.1841T>C 
 p.Leu614Pro 
 De novo 
  
  
 GEN031R042 
 missense_variant 
 c.1969C>T 
 p.Leu657Phe 
 De novo 
  
  
 GEN031R043 
 inframe_deletion 
 c.2227_2229delATC 
 p.Ile743del 
 De novo 
  
  
 GEN031R044 
 missense_variant 
 c.3560T>C 
 p.Val1187Ala 
 De novo 
  
  
 GEN031R045 
 missense_variant 
 c.4222C>G 
 p.Leu1408Val 
 De novo 
  
  
 GEN031R046 
 missense_variant 
 c.4231G>C 
 p.Val1411Leu 
 De novo 
  
  
 GEN031R047 
 missense_variant 
 c.4231G>T 
 p.Val1411Leu 
 De novo 
  
  
 GEN031R048 
 frameshift_variant 
 c.239_244delAGCGGAinsTTGCAGCTCC 
 p.Gln80LeufsTer49 
 De novo 
  
  
 GEN031R049 
 stop_gained 
 c.481C>T 
 p.Arg161Ter 
 Familial 
 Paternal 
  
 GEN031R050 
 stop_gained 
 c.1584G>A 
 p.Trp528Ter 
 Familial 
 Paternal 
  
 GEN031R051 
 splice_site_variant 
 c.2663+1G>C 
 p.? 
 Unknown 
 Not paternal 
  
 GEN031R052 
 frameshift_variant 
 c.2926delG 
 p.Val996TrpfsTer19 
 De novo 
  
  
 GEN031R053 
 frameshift_variant 
 c.4129dup 
 p.Arg1377ProfsTer61 
 De novo 
  
  
 GEN031R054 
 frameshift_variant 
 c.4553del 
 p.Leu1518ProfsTer3 
 De novo 
  
  
 GEN031R055 
 stop_gained 
 c.5860C>T 
 p.Arg1989Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN031R056 
 missense_variant 
 c.4231G>T 
 p.Val1411Leu 
 De novo 
  
 Simplex 
 GEN031R057 
 missense_variant 
 c.3137T>A 
 p.Ile1046Asn 
 Unknown 
  
  
 GEN031R058 
 missense_variant 
 c.3138C>G 
 p.Ile1046Met 
 Unknown 
  
  
 GEN031R059 
 missense_variant 
 c.3497T>C 
 p.Ile1166Thr 
 De novo 
  
 Simplex 
 GEN031R060 
 missense_variant 
 c.3497T>C 
 p.Ile1166Thr 
 De novo 
  
 Simplex 
 GEN031R061 
 missense_variant 
 c.107C>T 
 p.Ala36Val 
 De novo 
  
 Multiplex 
 GEN031R062 
 missense_variant 
 c.4549G>T 
 p.Val1517Leu 
 Unknown 
  
  
 GEN031R063 
 missense_variant 
 c.3476G>A 
 p.Arg1159His 
 Unknown 
  
  
 GEN031R064 
 synonymous_variant 
 c.3030A>G 
 p.Ala1010%3D 
 Unknown 
  
  
 GEN031R065 
 missense_variant 
 c.989C>T 
 p.Thr330Met 
 Familial 
 Maternal 
  
 GEN031R066 
 missense_variant 
 c.5306C>G 
 p.Thr1769Ser 
 Familial 
 Maternal 
  
 GEN031R067 
 stop_gained 
 c.1518G>A 
 p.Trp506Ter 
 De novo 
  
 Simplex 
 GEN031R068 
 missense_variant 
 c.2270C>T 
 p.Ala757Val 
 De novo 
  
  
 GEN031R069 
 missense_variant 
 c.2669G>A 
 p.Arg890His 
 De novo 
  
  
 GEN031R070 
 missense_variant 
 c.5563T>C 
 p.Ser1855Pro 
 De novo 
  
  
 GEN031R071 
 missense_variant 
 c.1233G>C 
 p.Glu411Asp 
 De novo 
  
 Simplex 
 GEN031R072 
 missense_variant 
 c.1865T>G 
 p.Val622Gly 
 De novo 
  
 Simplex 
 GEN031R073 
 missense_variant 
 c.815C>T 
 p.Ala272Val 
 De novo 
  
  
 GEN031R074 
 frameshift_variant 
 c.4129dup 
 p.Arg1377ProfsTer61 
 De novo 
  
 Simplex 
 GEN031R075a 
 missense_variant 
 c.5624G>A 
 p.Gly1875Asp 
 Familial 
 Paternal 
  
 GEN031R075b 
 missense_variant 
 c.6025C>T 
 p.Arg2009Trp 
 Familial 
 Maternal 
  
 GEN031R076 
 splice_site_variant 
 c.4623+1G>A 
  
 Familial 
 Maternal 
  
  et al.  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN031C001 
 intron_variant 
 rs1006737 
 c.477+115699G>A;c.567+115699G>A;c.486+115699G>A 
  
 4,387 cases and 6,209 controls from combined WTCCC, STEP-UCL and ED-DUB-STEP2 studies 
 Discovery 
 GEN031C002 
 allele 
  
 N/A 
  
 WTCCC 
 Replication 
 GEN031C003 
 intron_variant 
 rs1006737 
 c.477+115699G>A;c.567+115699G>A;c.486+115699G>A 
  
 CBDB-NIMHSS 
 Discovery 
 GEN031C004 
 intron_variant 
 rs10848653 
 c.478-70203A>G;c.568-70203A>G;c.487-70203A>G 
 G/A 
 2781 Caucasian parent/child trios (1103 from 543 AGRE families and 1678 from 1651 AGP families) 
 Discovery 
 GEN031C005 
 intron_variant 
 rs1024582 
 c.478-155896A>G;c.568-155896A>G;c.487-155896A>G 
  
 Pyschiatrics Genomic Consortium (PGC): 33,332 cases (with ASD, ADHD, bipolar disorder, major depressive disorder, and schizophrenia) and 27,888 controls 
 Discovery 
 GEN031C006 
 intron_variant 
 rs4765905 
 c.477+119988G>C;c.567+119988G>C;c.486+119988G>C 
 C/G 
 16,374 cases with schizophrenia, schizoaffective disorder or bipolar disorder and 14,044 controls 
 Discovery 
 GEN031C007 
 intron_variant 
 rs1006737 
 c.477+115699G>A;c.567+115699G>A;c.486+115699G>A 
  
 553 ASD trios of Chinese Han descent 
 Discovery 
 GEN031C008 
 intron_variant 
 rs4765905 
 c.477+119988G>C;c.567+119988G>C;c.486+119988G>C 
  
 554 ASD trios of Chinese Han descent 
 Discovery 
 GEN031C009 
 intron_variant 
 rs2007044 
 c.477+115364A>G;c.567+115364A>G;c.486+115364A>G 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Deletion-Duplication
 36
 
12
Duplication
 5
 
12
Deletion
 1
 
12
Duplication
 2
 
12
Duplication
 1
 
12
Duplication
 3
 
12
Deletion
 9
 
12
Duplication
 1
 

Model Summary

Deletion of Cacna1c leads to deficits in social behavior and pro-social 50-kHz ultrasonic communication in rats. Reduced levels of 50-kHz ultrasonic vocalizations emitted during rough-and-tumble play may suggest that Cacna1c haploinsufficient rats derive less reward from playful social interactions. Besides the emission of fewer 50-kHz ultrasonic vocalizations in the sender, Cacna1c deletion reduced social approach behavior elicited by playback of 50-kHz ultrasonic vocalizations. This indicates that Cacna1c haploinsufficiency has detrimental effects on 50-kHz ultrasonic communication in both, sender and receiver.

References

Type
Title
Author, Year
Primary
Cacna1c haploinsufficiency leads to pro-social 50-kHz ultrasonic communication deficits in rats.
Additional
Sex-specific effects of Cacna1c haploinsufficiency on object recognition, spatial memory, and reversal learning capabilities in rats.

R_CACNA1C_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: The ZFN mutant allele was produced by injecting zinc finger nuclease targeting rat Cacna1c into Sprague Dawley embryos. The Cacna1c null allele carries a 4 base pair (bp) deletion at 460649- 460652 bp in genomic sequence resulting in an early stop codon in exon 6.
Allele Type: Knockout
Strain of Origin: Sprague Dawley
Genetic Background: Sprague Dawley
ES Cell Line:
Mutant ES Cell Line:
Model Source: SAGE Labs

R_CACNA1C_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity2
Decreased
Description: Decreased ambulatory activity compared to controls.
 Eight-arm radial maze test
 4 months
Social approach1
Decreased
Description: Although both Cacna1c heterozygous rats and wildtype littermates displayed a preference for proximal over distal arms during playback, the strength of the response was clearly genotype-dependent.
 Radial maze test
 3 weeks
Ultrasonic vocalization: prosocial1
Decreased
Description: Cacna1c heterozygous rats emitted fewer 50-kHz USV than wildtype littermates while engaged in playful encounters, but also during non-play periods. Moreover, differences in the prevalence of specific 50-kHz USV subtypes was evident, with the genotype difference in 50-kHz USV emission rates being driven by reduced FLAT and MIXED 50-kHz USV in Cacna1c heterozygous rats, as compared to wildtype littermates. STEP and TRILL 50-kHz USV were not affected by genotype. 50-kHz USV emitted by heterozygous rats were characterized by higher peak frequencies than the ones emitted by wildtype littermates. Moreover, 50-kHz USV emitted by Cacna1c heterozygous rats were lower in peak amplitude. There was no genotype effect on call duration or frequency modulation.
 Reciprocal social interaction test
 4 weeks
Fear response1
Decreased
Description: Avoidance induced by the acoustic control stimulus white noise was modulated by genotype. Wildtype littermates displayed clear avoidance of proximal arms and no such avoidance of proximal arms was evident in Cacna1c heterozygous rats.
 Radial maze test
 3 weeks
Spatial reference memory2
Increased
Description: Increased number of entries into previously baited arms, and decrease into previously non-baited arms during probe trial.
Exp Paradigm: Spatial and reversal learning protocol errors in reference memory were counted as entries into non-baited arms and entries into baited arms wihout bait collection, as well as repeated entries into non-baited arms (mixed error).
 Eight-arm radial maze test
 4 months
Cognitive flexibility2
Decreased
Description: Decreased number of entries to currently baited arms.
Exp Paradigm: Reversal learning was performed on a radial eight arm maze, following the spatial learning protocol. The spatial learning period lasted seven days, immediately followed by the reversal learning period, which also lasted seven days. During the seven reversal learning days, the rats were again tested during five trials per day. Importantly, however, for all animals, and during all trials of each reversal learning day, arms 1, 2, 4, 6, and 7 never contained food, whereas arm 5 was consistently baited with six pellets and arms 3 and 8 were consistently baited with one food pellet. On day seven of the reversal learning period, a sixth trial was conducted as a probe trial with no available food pellets, lasting 5 min. Learning was measured as time to criterion.
 Eight-arm radial maze test
 4 months
Spatial working memory2
Increased
Description: Decreased number of mixed errors.
Exp Paradigm: Spatial and reversal learning protocol errors in working memory were counted as repeated entries into baited arms and repeated entries into non-baited arms (mixed error).
 Eight-arm radial maze test
 4 months
Targeted expression1
Decreased
Description: As shown by western blot using cortical tissue, Cav1.2 protein levels of Cacna1c heterozygous rats are reduced by slightly more than 50% in the brain, as compared to wildtype littermates.
 Western blot
 10 months
Size/growth1
 No change
 Body weight measurement
 3, 4, 8 weeks
Exploratory activity: habituation1
 No change
 Radial maze test
 3 weeks
Cognitive flexibility2
 No change
 Eight-arm radial maze test
 4 months
Object recognition memory2
 No change
 Novel object recognition test
 3 months
Spatial learning2
 No change
 Eight-arm radial maze test
 4 months
Spatial reference memory2
 No change
 Eight-arm radial maze test
 4 months
Spatial working memory2
 No change
 Eight-arm radial maze test
 4 months
General locomotor activity1
 No change
 Novel cage test
 2 months
General locomotor activity: ambulatory activity2
 No change
 Eight-arm radial maze test
 4 months
Circling1
 No change
 Novel cage test
 2 months
Self grooming: perseveration1
 No change
 Novel cage test
 2 months
Juvenile play1
 No change
 Reciprocal social interaction test
 4 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download CACNA1C's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTN1 actinin, alpha 1 87 P12814 Y2H; GST
Sakai Y , et al. 2011
ACTN2 actinin, alpha 2 88 P35609 Y2H
Sakai Y , et al. 2011
ADRB2 adrenergic, beta-2-, receptor, surface 154 P07550 IP/WB
Davare MA , et al. 2001
ANKRD35 ankyrin repeat domain 35 148741 Q8N283 Y2H
Sakai Y , et al. 2011
App amyloid beta (A4) precursor protein 11820 P12023 IP/WB
Yang L , et al. 2009
BIN1 bridging integrator 1 274 O00499 IP/WB; Biotinylation assay; TIRF
Hong TT , et al. 2010
BSG basigin (Ok blood group) 682 P35613 Y2H
Sakai Y , et al. 2011
C18orf32 chromosome 18 open reading frame 32 497661 Q8TCD1 Y2H
Sakai Y , et al. 2011
CABP1 calcium binding protein 1 9478 Q9NZU7 IP/WB
Tippens AL and Lee A 2007
CACNB1 calcium channel, voltage-dependent, beta 1 subunit 775 Q13936 IP/WB; FRET
Lao QZ , et al. 2010
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 783 Q08289 IP/WB; FRET
Lao QZ , et al. 2010
CACNB3 calcium channel, voltage-dependent, beta 3 subunit 784 P54284 IP/WB; FRET
Lao QZ , et al. 2010
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 785 O00305 IP/WB; FRET
Lao QZ , et al. 2010
CALM1 calmodulin 1 (phosphorylase kinase, delta) 801 P62158 GST
Asmara H , et al. 2010
DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3 9093 Q96EY1 Y2H
Sakai Y , et al. 2011
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 2202 Q12805 Y2H
Sakai Y , et al. 2011
FHL2 four and a half LIM domains 2 2274 Q14192 Y2H
Sakai Y , et al. 2011
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 9568 O75899 Y2H; GST; IP/WB
Park HW , et al. 2010
IFT88 intraflagellar transport 88 homolog (Chlamydomonas) 8100 Q13099 Y2H
Sakai Y , et al. 2011
NUP133 nucleoporin 133kDa 55746 Q8WUM0 Y2H
Sakai Y , et al. 2011
PICK1 protein interacting with PRKCA 1 9463 Q9NRD5 Y2H; GST
Sakai Y , et al. 2011
PIKFYVE phosphoinositide kinase, FYVE finger containing 200576 Q9Y2I7 IP/WB
Tsuruta F , et al. 2009
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 5566 P17612 Metabolic labeling with 32P
Gao T , et al. 1997
RIC3 resistance to inhibitors of cholinesterase 3 homolog (C. elegans) 79608 Q7Z5B4 Y2H
Sakai Y , et al. 2011
S100A10 S100 calcium binding protein A10 6281 P60903 Biotinylation assay
Das R , et al. 2009
SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) 6714 P12931 in vitro kinase assay
Kang M and Akbarali HI 2008
SRI sorcin 6717 P30626 IP/WB; Affinity chromatography
Meyers MB , et al. 1998
SRRT serrate RNA effector molecule homolog (Arabidopsis) 51593 Q9BXP5 Y2H
Sakai Y , et al. 2011
STIM1 stromal interaction molecule 1 6786 Q13586 IP/WB
Wang Y , et al. 2010
TNIP2 TNFAIP3 interacting protein 2 79155 Q8NFZ5 Y2H
Sakai Y , et al. 2011
VCP valosin containing protein 7415 P55072 Y2H
Sakai Y , et al. 2011
AHNAK AHNAK nucleoprotein 79026 Q09666 IP/WB
Shao Y , et al. 2009
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 775 Q13936 IP/WB
Schroder E , et al. 2009
EIF3E eukaryotic translation initiation factor 3, subunit E 3646 P60228 IP/WB
Thomsen MB , et al. 2009
KCNIP2 Kv channel interacting protein 2 30819 Q9NS61 GST
Thomsen MB , et al. 2009
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 5524 Q15257 Peptide overlay assay; GST; IP/WB
Xu H , et al. 2010
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme 5532 P16298 Peptide overlay assay; GST; IP/WB
Xu H , et al. 2010
AKAP7 A kinase (PRKA) anchor protein 7 9465 O43687 IP/WB
Hulme JT , et al. 2003
Camk2a calcium/calmodulin-dependent protein kinase II alpha 25400 P11275 IP/WB; Co-localization
Li B , et al. 2016
HDAC4 histone deacetylase 4 363287 Q99P99 DamID; qRT-PCR; ChIP
Kehat I , et al. 2011
KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 3778 Q12791 IP/WB
IP; MS; IP/WB
Berkefeld H , et al. 2006
KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 83731 Q62976 IP/WB
IP; MS; IP/WB
Berkefeld H , et al. 2006
Ppm1a protein phosphatase 1A, magnesium dependent, alpha isoform 24666 P20650 IP/WB
Li D , et al. 2005
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 Transfection analyses
Tang ZZ , et al. 2009
RIMS2 regulating synaptic membrane exocytosis 2 9699 Q9UQ26 IP/WB
Jacobo SM , et al. 2009
RYR1 ryanodine receptor 1 (skeletal) 100009540 P11716 Surface plasmon resonance (SPR); Affinity chromatography
Mouton J , et al. 2001
RYR2 ryanodine receptor 2 (cardiac) 403615 N/A Surface plasmon resonance (SPR); Affinity chromatography
Mouton J , et al. 2001
ADRB2 adrenergic, beta-2-, receptor, surface 154 P07550 in vitro binding assay; IP/WB; Co-localization
Patriarchi T , et al. 2016

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