Gene: CACNA1D

Alternate names for this Gene: CACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3|PASNA|SANDD

Gene Summary: Voltage-dependent calcium 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

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

Type of Gene: protein-coding

rs17237537 in CACNA1D gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13076366 in CACNA1D gene and Body mass index PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3821843 in CACNA1D gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3774427 in CACNA1D gene and Diastolic blood pressure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs10452033 in CACNA1D gene and Electrocardiogram: P-R interval PMID 25055868 2014 Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.

rs12715461 in CACNA1D gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs552345 in CACNA1D gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs3774427 in CACNA1D gene and Mean blood pressure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs1553676901 in CACNA1D gene and Movement Disorders PMID 25620733 2015 CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.

PMID 28472507 2017 A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.

PMID 21131953 2011 Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 12700358 2003 Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23913001 2013 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

PMID 23913004 2013 Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

PMID 10929716 2000 Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

rs386834264 in CACNA1D gene and PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES PMID 23913001 2013 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

rs2358740 in CACNA1D gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs2358740 in CACNA1D gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

rs185334926 in CACNA1D gene and Sleep Initiation and Maintenance Disorders PMID 29520036 2018 Genome-wide analysis of insomnia disorder.

rs2633725 in CACNA1D gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs3774427 in CACNA1D gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs13080668 in CACNA1D gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

rs2306866 in CACNA1D 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.