. 2023 Feb 8;24(4):3365. doi: 10.3390/ijms24043365

Table 2.

Calcium-related genes linked to hypertrophic cardiomyopathy.

HGNC_Gene Symbol	Full Name	Location	Exon Count	Protein Function	OMIM Disease	OMIM IDs	Inheritance	References
RYR2	Ryanodine receptor 2	1q43	105	Regulates muscle hypertrophy and actin filament-based movement.	ARVD2	600996	AD	[104,105]
					VA	115000	AD
					CPVT1	604772	AD
ALPK3	Alpha kinase 3	15q25.3	14	Striated muscle cell development and differentiation. Actomyosin structure organization. Heart development and morphogenesis. Regulates the expression and localization of critical proteins in both the sarcomere M-band and nuclear envelope of cardiomyocytes.	HCM,27	618052	AR	[84,85]
TNNC1	Troponin C1, slow skeletal and cardiac type	3p21.1	6	Ca²⁺ sensor and key regulator of cardiac contraction. Its Ca²⁺-binding properties modulate the rate of cardiac muscle contraction at submaximal levels of Ca²⁺ activation. Modulates the Ca²⁺-binding properties. Calcium-binding subunit of the troponin complex responsible for initiating striated muscle contraction in response to calcium influx.	DCM, 1Z	611879	AD	[106,107,108]
TNNC1	Troponin C1, slow skeletal and cardiac type	3p21.1	6		HCM13	613243	AD	[106,107,108]
JPH2	Junctophilin 2	20q13.12	5	Mediates cross-talk between the cell surface and ER. Cellular Ca²⁺ signaling in excitable cells form junctional membrane complexes between the plasma membrane and the ER/SR.	DCM, 2E	619492	AR	[109,110,111]
JPH2	Junctophilin 2	20q13.12	5		HCM,17	613873	AD	[109,110,111]
PLN	Phospholamban	6q22.31	2	Crucial Ca²⁺ cycling protein and a primary mediator of the beta-adrenergic effects, resulting in enhanced cardiac activity. Regulates the activity of the sarcoplasmic Ca²⁺ ATPase isoform, a regulator of the kinetics of cardiac contraction. Unphosphorylated PLN reduces ATP2A1 affinity for Ca²⁺ and affects enzymatic turnover.	DCM, 1P	609909	AD	[97,112,113]
PLN	Phospholamban	6q22.31	2		HCM, 18	613874	AD	[97,112,113]

ARVD: arrhythmogenic right ventricular dysplasia; AD: autosomal dominant; AR: autosomal recessive; CPVT: catecholaminergic polymorphic ventricular tachycardia; DCM: dilated cardiomyopathy; ER: endoplasmic reticulum; SR: sarcoplasmic reticulum; HCM: hypertrophic cardiomyopathy; LQTS: long QT syndrome; VA: ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.