CACNA1Fcalcium channel, voltage-dependent, alpha 1F
Autism Reports / Total Reports
2 / 9Rare Variants / Common Variants
7 / 2Aliases
CACNA1F, JM8, JMC8, CSNB2, CSNBX2Associated Syndromes
-Chromosome Band
Xp11.23Associated Disorders
-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
SFARI Genomic Platforms
Reports related to CACNA1F (9 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution | McRory JE , et al. (2004) | No | - |
2 | Recent Recommendation | Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina | Mansergh F , et al. (2005) | No | - |
3 | Recent Recommendation | A further study of a possible locus for schizophrenia on the X chromosome | Wei J and Hemmings GP (2006) | No | - |
4 | Recent Recommendation | Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels | Griessmeier K , et al. (2009) | No | - |
5 | Recent Recommendation | Congenital stationary night blindness in mice - a tale of two Cacna1f mutants | Lodha N , et al. (2010) | No | - |
6 | Support | Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy | Klassen T , et al. (2011) | No | - |
7 | Support | A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders | Suzuki T et al. (2020) | Yes | - |
8 | Support | - | Viggiano M et al. (2022) | Yes | - |
9 | Primary | An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness | Strom TM , et al. (1998) | No | - |
Rare Variants (7)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
G>A | - | intron_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
C>T | p.(=) | synonymous_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.40C>A | p.Pro14Thr | missense_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.5081G>A | p.Gly1694Glu | missense_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.4048G>A | p.Gly1350Ser | missense_variant | Familial | Maternal | - | 35350424 | Viggiano M et al. (2022) | |
c.4255G>A | p.Ala1419Thr | missense_variant | Familial | Maternal | - | 35350424 | Viggiano M et al. (2022) | |
c.2441_2442insAGAAGA | p.Glu824_Glu825dup | inframe_insertion | Familial | Maternal | Simplex | 32530565 | Suzuki T et al. (2020) |
Common Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.382-36C>T;c.382-36T>C;c.187-36C>T;c.187-36T>C | N/A | intron_variant | - | - | - | 16650384 | Wei J and Hemmings GP (2006) | |
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 | intron_variant | - | - | - | 16650384 | Wei J and Hemmings GP (2006) |
SFARI Gene score
Strong Candidate
A significant but unreplicated association with ASD has been reported (Myers et al., 2011).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
A significant but unreplicated association with ASD has been reported (Myers et al., 2011).
7/1/2020
Decreased from 3 to 3
Description
A significant but unreplicated association with ASD has been reported (Myers et al., 2011).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A significant but unreplicated association with ASD has been reported (Myers et al., 2011).
Reports Added
[New Scoring Scheme]7/1/2014
Increased from No data to 4
Description
A significant but unreplicated association with ASD has been reported (Myers et al., 2011).
4/1/2014
Increased from No data to 4
Description
A significant but unreplicated association with ASD has been reported (Myers et al., 2011).
Krishnan Probability Score
Score 0.48700961248523
Ranking 7077/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.87370360449603
Ranking 3437/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.9480154290156
Ranking 17511/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.14707328538104
Ranking 14040/20870 scored genes
[Show Scoring Methodology]
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
Cabp4 | calcium binding protein 4 | Mouse | Protein Binding | 73660 | Q8VHC5 |
Cacna1f | calcium channel, voltage-dependent, alpha 1F subunit | Mouse | Autoregulation | 54652 | Q9JIS7 |