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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

External Links

        

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
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Epilepsy/seizures
Support
ASD
ID
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
Early-onset severe spinocerebellar ataxia 42 with
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
ID
Support
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Integrating de novo and inherited variants in 42
ASD
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
De novo gene disruptions in children on the autistic spectrum.
ASD
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
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
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.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN034R001 
 synonymous_variant 
 c.561G>A 
 p.Pro187= 
 De novo 
  
 Simplex 
 GEN034R002 
 synonymous_variant 
 c.153G>A 
 p.Leu51= 
 Unknown 
  
 Unknown 
 GEN034R003 
 synonymous_variant 
 c.546C>T 
 p.Val182= 
 Unknown 
  
 Unknown 
 GEN034R004 
 synonymous_variant 
 c.915C>T 
 p.Tyr305= 
 Unknown 
  
 Unknown 
 GEN034R005 
 synonymous_variant 
 c.1464C>T 
 p.Arg488= 
 Unknown 
  
 Unknown 
 GEN034R006 
 synonymous_variant 
 c.1770T>C 
 p.Tyr590= 
 Unknown 
  
 Unknown 
 GEN034R007 
 synonymous_variant 
 c.1917G>A 
 p.Gln639= 
 Unknown 
  
 Unknown 
 GEN034R008 
 synonymous_variant 
 c.4084C>T 
 p.Leu1362= 
 Unknown 
  
 Unknown 
 GEN034R009 
 synonymous_variant 
 c.4956C>T 
 p.Val1652= 
 Unknown 
  
 Unknown 
 GEN034R010 
 synonymous_variant 
 c.6348G>A 
 p.Gln2116= 
 Unknown 
  
 Unknown 
 GEN034R011 
 missense_variant 
 c.286G>A 
 p.Val96Met 
 Unknown 
  
 Unknown 
 GEN034R012 
 missense_variant 
 c.72C>G 
 p.Asp24Glu 
 Unknown 
  
 Unknown 
 GEN034R013 
 missense_variant 
 c.1345C>T 
 p.Arg449Cys 
 Unknown 
  
 Unknown 
 GEN034R014 
 missense_variant 
 c.1556C>T 
 p.Pro519Leu 
 Unknown 
  
 Unknown 
 GEN034R015 
 missense_variant 
 c.4759C>T 
 p.His1587Tyr 
 Unknown 
  
 Unknown 
 GEN034R016 
 missense_variant 
 c.6109C>T 
 p.Pro2037Ser 
 Unknown 
  
 Unknown 
 GEN034R017 
 missense_variant 
 c.6542C>A 
 p.Ser2181Tyr 
 Unknown 
  
 Unknown 
 GEN034R018 
 2KB_upstream_variant 
 C>T 
  
 Unknown 
  
 Unknown 
 GEN034R019 
 splice_site_variant 
 T>A 
  
 Unknown 
  
 Unknown 
 GEN034R020a 
 inframe_deletion 
 c.667_669del 
 p.Phe223del 
 Familial 
 Both parents 
 Multiplex 
 GEN034R021 
 missense_variant 
 c.3599A>G 
 p.Asn1200Ser 
 De novo 
  
 Unknown 
 GEN034R022 
 missense_variant 
 c.4142G>A 
 p.Arg1381Gln 
 De novo 
  
 Simplex 
 GEN034R023 
 synonymous_variant 
 c.561G>A 
 p.Pro187= 
 De novo 
  
 Simplex 
 GEN034R024 
 missense_variant 
 c.5144G>A 
 p.Arg1715His 
 Familial 
 Maternal and paternal 
 Multi-generational 
 GEN034R025 
 missense_variant 
 c.2881G>A 
 p.Ala961Thr 
 De novo 
  
  
 GEN034R026 
 missense_variant 
 c.4591A>G 
 p.Met1531Val 
 De novo 
  
  
 GEN034R027 
 missense_variant 
 c.2881G>A 
 p.Ala961Thr 
 De novo 
  
  
 GEN034R028 
 missense_variant 
 c.2881G>A 
 p.Ala961Thr 
 De novo 
  
  
 GEN034R029 
 missense_variant 
 c.4591A>G 
 p.Met1531Val 
 De novo 
  
  
 GEN034R030 
 missense_variant 
 c.557G>A 
 p.Arg186Gln 
 Unknown 
  
  
 GEN034R031 
 missense_variant 
 c.481A>T 
 p.Ile161Phe 
 Familial 
 Paternal 
  
 GEN034R032 
 missense_variant 
 c.1460G>A 
 p.Arg487His 
 Familial 
 Maternal 
  
 GEN034R033 
 missense_variant 
 G>A 
 p.Gly1057Asp 
 Familial 
 Maternal 
  
 GEN034R034 
 missense_variant 
 C>G 
 p.Leu2163Val 
 Familial 
 Paternal 
  
 GEN034R035 
 synonymous_variant 
 c.894C>T 
 p.Cys298%3D 
 De novo 
  
  
 GEN034R036 
 missense_variant 
 c.4390C>T 
 p.Arg1464Trp 
 De novo 
  
  
 GEN034R037 
 missense_variant 
 c.6626C>T 
 p.Pro2209Leu 
 De novo 
  
  
 GEN034R038 
 missense_variant 
 c.3569G>T 
 p.Arg1190Leu 
 De novo 
  
  
 GEN034R039 
 missense_variant 
 c.5240G>A 
 p.Gly1747Glu 
 De novo 
  
  
 GEN034R040 
 missense_variant 
 c.4664G>A 
 p.Arg1555Gln 
 Unknown 
  
  
 GEN034R041 
 missense_variant 
 c.623T>C 
 p.Leu208Pro 
 De novo 
  
 Simplex 
  et al.  
 GEN034R042 
 missense_variant 
 c.3223G>A 
 p.Ala1075Thr 
 Familial 
 Maternal 
 Simplex 
  et al.  

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 
 GEN034C005 
 intron_variant 
 rs12946808 
 c.489-56T>G 
 G/T 
 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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Duplication
 1
 
17
Deletion
 2
 
17
Duplication
 1
 
17
Deletion-Duplication
 8
 
17
Deletion
 1
 
17
Duplication
 1
 

Model Summary

Modulation of the intrinsic firing pattern mediated by alpha(1G) T-type Ca(2+) channels plays a critical role in the genesis of absence seizures in the thalamocortical pathway.

References

Type
Title
Author, Year
Primary
Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2) channels.
Additional
Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2) channels.
Additional
Thalamic Cav3.1 T-type Ca2 channel plays a crucial role in stabilizing sleep.
Additional
Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive.
Additional
T-type channels control the opioidergic descending analgesia at the low threshold-spiking GABAergic neurons in the periaqueductal gray.
Additional
Anterior thalamic dysfunction underlies cognitive deficits in a subset of neuropsychiatric disease models

M_CACNA1G_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Null mutation of the 1G subunit of T-type Ca2+ channels.
Allele Type: Targeted (knock-out)
Strain of Origin: C57/BL6
Genetic Background: Not Specified
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1G_1_KO_HM_KAINATE

Model Type: Pharmaceutical intervention
Model Genotype: Homozygous
Mutation: Cacna1G null mice were treated with a chemical ** to induce seizures.
Allele Type: Targeted (knock-out)
Strain of Origin: C57/BL6
Genetic Background: Not Specified
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1G_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: loxP sequences placed in introns flanking exons 9-12 of the gene encoding Cav3.1 were deleted by crossing with globally targeted Cre transgenic mice.
Allele Type: Targeted (knock-out)
Strain of Origin: C57/BL6
Genetic Background: Not Specified
ES Cell Line: C57/BL7
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1G_3_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 9-12 of the CACNA1G gene encoding Cav3.1 using K128-Cre mainly in thalamic nuclei
Allele Type: Conditional loss-of-function
Strain of Origin: C57/BL6
Genetic Background: Not Specified
ES Cell Line: C57/BL7
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1G_5_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Null mutation of the 1G subunit of T-type Ca2+ channels.
Allele Type: Targeted (knock-out)
Strain of Origin: C57/BL6J
Genetic Background: 129/Sv
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1G_4_KD_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: shRNA mediated knockdown of alpha1G T-type channels in the periaqueuctal gray (PAG) delivered via stereotaxic surgery.
Allele Type: Targeted (Knock-Down)
Strain of Origin: Not Specified
Genetic Background: 129/sv or C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1G_6_KD_HE_AD

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Optimized circuit-based crispr-cas9 viral approach included a retrograde rv-expressing cre (rvdgl-cre) injected in presub and a virus expressing target guide rnas combined with a cre-dependent spcas9 virus (aav9-sgrna-mch) injected in ad, to knock down cacna1g in ad
Allele Type: Knockdown
Strain of Origin:
Genetic Background: C57BL/6J
ES Cell Line:
Mutant ES Cell Line:
Model Source: 34197733

M_CACNA1G_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission2
Increased
Description: Increased discharge activity during met-enkephalin (me) treatment of gabaergic neurons from the ventrolateral periaquaductal gray area
Exp Paradigm: Whole-cell patch clamp recording of gabaergic neurons in response to me treatment
 Whole-cell patch clamp
 4 weeks
Action potential property: firing rate2
Increased
Description: Increased range of discharge activity between low-threshold spikes positive- and negative- gabaergic neurons
Exp Paradigm: Whole-cell patch clamp recording of discharge activity of gabaergic neurons in pag slices
 Whole-cell patch clamp
 4 weeks
Synaptic transmission2
Decreased
Description: Decreased low-threshold spikes by gabaergic neurons
Exp Paradigm: NA
 Whole-cell patch clamp
 4 weeks
Neuronal ion channel activity1
Decreased
Description: No low voltage ca2+ current in tc neurons.
Exp Paradigm: Whole-cell voltage clamp analysis of low voltage activated calcium current
 Whole-cell patch clamp
 Unreported
Synaptic transmission2
Increased
Description: Increased frequency of spontaneous inhibitory postsynaptic currents (sipsc) from pag-rvm projection neurons
Exp Paradigm: Whole-cell patch clamp recordings from pag slices
 Whole-cell patch clamp
 4 weeks
Action potential property: firing rate1
Decreased
Description: No burst firing of action potentials were observed.
Exp Paradigm: Intracellular recording with a current clamp in thalamic slice preparation.
 Whole-cell patch clamp
 Unreported
Pain or nociception2
Decreased
Description: Decreased morphine induced analgesia
Exp Paradigm: Analgesia measurement using the hot-plate test after administration of morphine
 Hot plate test
 12 weeks
Pain or nociception2
Decreased
Description: Decreased levels of swim-stress induced analgesia (ssia)
Exp Paradigm: Hot-plate sensitivity test before and after stress induced by swimming
 Swim stress test
 12 weeks
Protein expression level evidence1
Decreased
Description: No alpha 1g protein was produced in the knockout brain
Exp Paradigm: Protein expression
 Western blot
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Brain anatomy1
 No change
 NA
 Unreported
Action potential property: firing pattern2
 No change
 Whole-cell patch clamp
 4 weeks
Ion influx and permeability: calcium1
 No change
 Whole-cell patch clamp
 Unreported
Presynaptic function: paired-pulse facilitation2
 No change
 Whole-cell patch clamp
 4 weeks
Synaptic transmission2
 No change
 Whole-cell patch clamp
 4 weeks
Synaptic transmission2
 No change
 Whole-cell patch clamp
 4 weeks
Absence seizures1
 No change
 Electroencephalogram (eeg)
 Unreported
Seizures1
 No change
 Maximal electroconvulsive seizure threshold test
 Unreported
Pain or nociception2
 No change
 Hot plate test
 12 weeks
Pain or nociception2
 No change
 Hot plate test
 12 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CACNA1G_1_KO_HM_KAINATE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroencephalogram (eeg): signature of seizure/epilepsy1
Decreased
Description: Reduced amplitude of peaks and desynchronized spike-and-wave discharge from thalamus
Exp Paradigm: Chemically induced seizures monitored with electrodes placed in the thalamus to monitor wave patterns
 Observation of chemically induced seizures
 Unreported
Absence seizures1
Decreased
Description: Cacna1g null mice do not display typical spike and wave discharge patterns
Exp Paradigm: Chemically induced seizures monitored with eeg for wave pattern
 Electroencephalogram (eeg)
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_CACNA1G_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
Abnormal
Description: Mutants displayed fragmented sleep with delayed sleep onset
Exp Paradigm: NA
 NA
 Not reported
Adaptation to dark phase1
Decreased
Description: Cacna1g null mice display reduced locomotor activity during 12h dark period
Exp Paradigm: NA
 NA
 Not reported
Sleep pattern1
Decreased
Description: Total sleep is reduced in mutants
Exp Paradigm: NA
 NA
 Not reported
Non rapid eye movement sleep (nrems)1
Decreased
Description: Mutants have reduced non rem sleep during the dark cycle and have short bouts in the non rem sleep.
Exp Paradigm: NA
 NA
 Not reported
Action potential property: firing rate1
Abnormal
Description: Nonadapting action-potentials with transient hyperpolarization uninhibited with transient hyperpolarizing current.
Exp Paradigm: Patch clamp/ voltage clamp
 Whole-cell patch clamp
 Not reported
Action potential property: firing rate1
Increased
Description: Increased continuous train of action potential evoked by depolarizing current injections
Exp Paradigm: Patch clamp/ voltage clamp
 Whole-cell patch clamp
 Not reported
 Not Reported: Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CACNA1G_3_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
Abnormal
Description: Mutants displayed fragmented sleep with delayed sleep onset
Exp Paradigm: NA
 NA
 Not reported
Adaptation to dark phase1
Decreased
Description: Mutants display reduced locomotor activity during the 12 h dark period
Exp Paradigm: NA
 NA
 Not reported
Sleep pattern1
Decreased
Description: Total sleep is reduced in mutants
Exp Paradigm: NA
 NA
 Not reported
Non rapid eye movement sleep (nrems)1
Decreased
Description: Mutants have reduced non rem sleep during the dark cycle and have short bouts in the non rem sleep.
Exp Paradigm: NA
 NA
 Not reported
Action potential property: firing rate1
 No change
 Whole-cell patch clamp
 Unreported
 Not Reported: Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CACNA1G_5_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Tremor1
Decreased
Description: Decreased tremor activities in response to harmaline
Exp Paradigm: Observation of abberant behavior such as tremors in response to administration of i.p 9 mg/kg harmaline
 Tremor activity measurements
 Unreported
Hyperactivity1
Increased
Description: Increased hyperactivity upon first exposure to test box
Exp Paradigm: Open field test
 Open field test
 Unreported
Tremor1
Increased
Description: Increased tremor activity in response to administratino of oxotremorine, physostigmine, and penitrem-a
Exp Paradigm: Observation of abberant behavior such as tremors in response to drug treatment
 Tremor activity measurements
 Unreported
Synaptic plasticity1
Decreased
Description: Decreased induction of 4-to 10-hz osscilations in inferior olive (io) and deep cerebellar nuclei (dcn) neurons; rhythmic spiking activities; and lfp osscilations in io
Exp Paradigm: Simultaneous recordings of lfp and multiunit spikes in io and dcn
 In vivo local field potential (lfp) recordings
 Unreported
Membrane potential1
Decreased
Description: Decreased subthreshold osscilations at resting membrane potentials, and rhythmicity of spike activities
Exp Paradigm: Whole-cell patch clamp recordings in io neurons after a continous increase in harmaline concentration
 Whole-cell patch clamp
 Unreported
Ion influx and permeability: calcium1
Decreased
Description: Decreased induction of low threshold calcium spikes
Exp Paradigm: Intracellular recordings in brain stem slices
 Whole-cell patch clamp
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_CACNA1G_4_KD_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Pain or nociception1
Decreased
Description: Decreased levels of swim-stress induced analgesia (ssia)
Exp Paradigm: Hot-plate sensitivity test before and after stress induced by swimming
 Swim stress test
 12 weeks
Pain or nociception1
 No change
 Hot plate test
 12 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

M_CACNA1G_6_KD_HE_AD

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cued or contextual fear conditioning: memory of context1
decreased
Description: Cacna1g kd led to long term memory recall deficit
 Fear conditioning test
 3-5 months
Spatial working memory1
decreased
Description: Working memory impairment when the delay between sample and choice phases was longer (60 s)
 T-maze test
 3-5 months
Targeted expression1
decreased
Description: Ad thalamus specific kd of cacna1g
 Fluorescence in situ hybridization
 not specified
Reward reinforced choice behavior1
 no change
 T-maze test
 3-5 months
 Not Reported:





Download CACNA1G's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Cacng6 calcium channel, voltage-dependent, gamma subunit 6 140727 Q8VHW7 IP/WB
Lin Z , et al. 2008
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 Luciferase reporter assay
Wisniewska MB , et al. 2010
KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 3751 A4D0V9 IP/WB; GST
Anderson D , et al. 2010
LEF1 lymphoid enhancer-binding factor 1 51176 Q659G9 Luciferase reporter assay
Wisniewska MB , et al. 2010
NOS3 nitric oxide synthase 3 (endothelial cell) 4846 P60323 IP/WB; GST
Nakayama H , et al. 2009
RANBP9 RAN binding protein 9 10048 Q96S59 Y2H; IP/WB
Kim T , et al. 2008
UBQLN4 ubiquilin 4 56893 Q9NRR5 Y2H
Lim J , et al. 2006
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014

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