ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

KEGG Pathway Report

Basic Info
ID hsa04260
Name Cardiac muscle contraction
Description  Contraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation of voltage-dependent L-type Ca channels (DHP receptors) upon membrane depolarization triggers the release of Ca2+ via Ca2+ release channels (ryanodine receptors) of sarcoplasmic reticulum (SR) through a Ca2+ -induced Ca release (CICR) mechanism. Ca2+ ions released via the CICR mechanism diffuse through the cytosolic space to contractile proteins to bind to troponinC resulting in the release of inhibition induced by troponinI. The Ca2+ binding to troponinC thereby triggers the sliding of thin and thick filaments, that is, the activation of a crossbridge and subsequent cardiac force development and/or cell shortening. Recovery occurs as Ca2+ is pumped out of the cell by the Na+/Ca2+ exchanger (NCX) or is returned to the sarcoplasmic reticulum (SR) by sarco(endo)plasmic Ca2+ -ATPase (SERCA) pumps on the non-junctional region of the SR.
No. of Genes in ADHDgene  19
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 19)

Literature-origin genes (count: 2)

Approved Symbol Approved Name Location No. of Studies (significant/non-significant/trend)
COX7B2 cytochrome c oxidase subunit VIIb2 4p12 1(0/1/0)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.3 1(0/1/0)

Genes from other sources Help(count: 17)

Approved Symbol Approved Name Location Source
CACNG5 calcium channel, voltage-dependent, gamma subunit 5 17q24 Mapped by PBA pathway
RYR2 ryanodine receptor 2 (cardiac) 1q43 Mapped by CNV; Mapped by PBA pathway
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) 11q12-q13 Mapped by significant region
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 2q22-q23 Mapped by PBA pathway
UQCRC2 ubiquinol-cytochrome c reductase core protein II 16p12 Mapped by CNV; Mapped by significant region
CACNG1 calcium channel, voltage-dependent, gamma subunit 1 17q24 Mapped by PBA pathway
CACNG2 calcium channel, voltage-dependent, gamma subunit 2 22q13.1 Mapped by PBA pathway
CACNG4 calcium channel, voltage-dependent, gamma subunit 4 17q24 Mapped by PBA pathway
FXYD2 FXYD domain containing ion transport regulator 2 11q23 Mapped by significant region
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit Xp11.23 Mapped by LD-proxy; Mapped by PBA pathway; Mapped by literature SNP
CACNB1 calcium channel, voltage-dependent, beta 1 subunit 17q21-q22 Mapped by PBA pathway
COX4I1 cytochrome c oxidase subunit IV isoform 1 16q24.1 Mapped by significant region
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 7q21-q22 Mapped by PBA pathway
CACNB3 calcium channel, voltage-dependent, beta 3 subunit 12q13 Mapped by PBA pathway
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 10p12 Mapped by PBA pathway
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 3p14.3 Mapped by PBA pathway
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 1q32 Mapped by PBA pathway