Entity Details

Primary name CACNA1D
Entity type gene
Source Source Link

Details

PrimaryID776
RefseqGeneNG_032999
SymbolCACNA1D
Namecalcium voltage-gated channel subunit alpha1 D
Chromosome3
Location3p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-04-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAC1D_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0006816 calcium ion transport
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway
GO:0007605 sensory perception of sound
GO:0030018 Z disc
GO:0030506 ankyrin binding
GO:0045762 positive regulation of adenylate cyclase activity
GO:0046872 metal ion binding
GO:0050796 regulation of insulin secretion
GO:0051393 alpha-actinin binding
GO:0051928 positive regulation of calcium ion transport
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086046 membrane depolarization during SA node cell action potential
GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901016 regulation of potassium ion transmembrane transporter activity
GO:1901379 regulation of potassium ion transmembrane transport
GO:1990454 L-type voltage-gated calcium channel complex

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614896 OMIMSinoatrial node dysfunction and deafness (SANDD)A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. The disease is caused by variants affecting the gene represented in this entry.
615474 OMIMPrimary aldosteronism, seizures, and neurologic abnormalities (PASNA)A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. The disease is caused by variants affecting the gene represented in this entry.