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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. Genetic association has also been found between the CACNA1F gene and schizophrenia in a Caucasian-European cohort from the UK population (Wei and Hemmings, 2006).

Molecular Function

The encoded protein has low voltage-gated calcium channel activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
X-linked congenital stationary night blindness (CS
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
Recent Recommendation
A further study of a possible locus for schizophrenia on the X chromosome.
SCZ
Recent Recommendation
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
Recent Recommendation
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
Recent Recommendation
Calmodulin is a functional regulator of Cav1.4 L-type Ca2 channels.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN033R001 
 synonymous_variant 
 C>T 
 p.(=) 
 Unknown 
  
 Unknown 
 GEN033R002 
 missense_variant 
 c.40C>A 
 p.Pro14Thr 
 Unknown 
  
 Unknown 
 GEN033R003 
 missense_variant 
 c.5081G>A 
 p.Gly1694Glu 
 Unknown 
  
 Unknown 
 GEN033R004 
 intron_variant 
 G>A 
  
 Unknown 
  
 Unknown 
 GEN033R005 
 inframe_insertion 
 c.2441_2442insAGAAGA 
 p.Glu824_Glu825dup 
 Familial 
 Maternal 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN033C001 
 intron_variant 
 rs2071316 
 c.3813+68A>G;c.3813+68G>A;c.3651+68A>G;c.3651+68G>A;c.3846+68A>G;c.3846+68G>A 
 N/A 
 Caucasian-European 
 Discovery 
 GEN033C002 
 intron_variant 
 rs5905724 
 c.382-36C>T;c.382-36T>C;c.187-36C>T;c.187-36T>C 
 N/A 
 Caucasian-European 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 12
 
X
Duplication
 1
 
X
Duplication
 5
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

Model Summary

Ca(v)1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses.

References

Type
Title
Author, Year
Primary
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.

M_CACNA1F_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous/Hemizygous
Mutation: Targeted gene disruption using Cre/loxP of exon 7 of Cacna1f gene leading to loss of function mutation.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_CACNA1F_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroretinogram (erg)2
Decreased
Description: Cone erg was absent in cacna1 null mice, measured in in the post receptoral synapses
Exp Paradigm: Electroretinographic analysis
 Electroretinogram (erg)
 2-3 months
Electroretinogram (erg)2
Decreased
Description: Absence of multi-unit activity in superior colliculus
Exp Paradigm: Electroretinographic analysis
 Electroretinogram (erg)
 2-3 months
Event related potential (erp) in electroencephalography (eeg)1
Decreased
Description: Decreased cortical activation was see in the superior colliculus, by visually evoked potentials, vep
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Unreported
Electroretinogram (erg)2
Decreased
Description: Decreased amplitude of a-wave; decreased scotopic b-wave and cone erg signal
Exp Paradigm: Electroretinographic analysis
 Electroretinogram (erg)
 2-3 months
Morphology of the retina2
Decreased
Description: Decreased number of horizontal cells in the opl
Exp Paradigm: Immunocytochemical analysis using the calbindin antibody
 Immunohistochemistry
 Unreported
Morphology of the retina2
Abnormal
Description: Abnormally flattened and rough rod bipolar cell bodies; irregular axon terminals; dendritic appendages beyond the opl
Exp Paradigm: Immunocytochemical analysis using the pkc antibody
 Immunohistochemistry
 Unreported
Morphology of the retina: plexiform layer morphology2
Decreased
Description: Decreased immunoreactivity from the outer plexiform layer (opl) and inner plexiforn layer (ipl) of retina
Exp Paradigm: Immunocytochemical analysis
 Immunohistochemistry
 Unreported
Morphology of the retina2
Decreased
Description: Decreased presence of photoreceptor terminals in the opl and onl
Exp Paradigm: Immunocytochemical analysis using the mglur6 and basoon antibody
 Immunohistochemistry
 Unreported
Calcium ion uptake2
Decreased
Description: Decreased levels of calcium signaling in the outer retinal layers
Exp Paradigm: Intracellular [ca2+ ]
 Fluorescence microscopy
 Unreported
Morphology of the retina2
 No change
 Immunohistochemistry
 Unreported
Morphology of the retina2
 No change
 Histology
 Unreported
Morphology of the retina2
 No change
 Immunohistochemistry
 Unreported
 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


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Cabp4 calcium binding protein 4 73660 Q8VHC5 Affinity chromatography
Haeseleer F , et al. 2004
Cacna1f calcium channel, voltage-dependent, alpha 1F subunit 54652 Q9JIS7 IP/WB
Wahl-Schott C , et al. 2006
Cacnb3 calcium channel, voltage-dependent, beta 3 subunit 12297 P54285 IP/WB
Jha MK , et al. 2009
Calm1 calmodulin 1 12313 P62204 IP/WB; FRET
Griessmeier K , et al. 2009
Lck lymphocyte protein tyrosine kinase 16818 P06240 IP/WB
Jha MK , et al. 2009
Vav1 vav 1 oncogene 22324 P27870 IP/WB
Jha MK , et al. 2009

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