Gene: CACNA1E

Alternate names for this Gene: BII|CACH6|CACNL1A6|Cav2.3|EIEE69|gm139

Gene Summary: Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: calcium voltage-gated channel subunit alpha1 E

Type of Gene: protein-coding

rs71632123 in CACNA1E gene and Antiphospholipid antibodies measurement PMID 27098658 2016 Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression.

rs6673775 in CACNA1E gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs12131800 in CACNA1E gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID 30343943 2018 De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

rs199928 in CACNA1E gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs10494541 in CACNA1E gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs3856086 in CACNA1E gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs169235 in CACNA1E gene and Major Depressive Disorder PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs10910953 in CACNA1E gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.