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FLASH GENE

Symbol

CASQ2

contributors: mct/npt/pgu - updated : 02-12-2016

HGNC name	calsequestrin 2 (cardiac muscle)
HGNC id	1513

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001232 11 - 2716 NP_001223 - 399 - 2009 19376574

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Homo sapiens Muscular striatum cardiac

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C-terminal calcium-sensitive disordered motifs undergoing distinctive Ca(2+)-mediated folding suggesting that these disordered motifs are Ca(2+)-sensitivity

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Casq2

intraspecies

homolog to CASQ1

Homologene

FAMILY

calsequestrin family

CATEGORY

storage

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	sarcoplasmic reticulum
	CASQ1, CASQ2 are present in the endoplasmic reticulum vacuolar domains of some neurons and smooth muscles
	accumulates in the perinuclear rough ER

basic FUNCTION	involved in heart development and function and in storage of calcium for muscle function
	may be the key sarcoplasmic reticulum (SR) Ca2+ storage protein essential for SR Ca2+ release in mammalian heart
	intrasarcoplasmic reticulum (SR) low-affinity Ca-binding protein
	with TRDN are important for the structural organization of the SR
	facilitates high rates of Ca(2+) release through RYR2 during systole
	is a low-affinity, high-capacity Ca2+-binding protein that can store Ca2+ within the SR
	regulatory role of CASQ2 on cytosolic Ca(2+) and KCNH2 channels which may contribute to the etiology of VTSIP2
	major Ca2+ binding protein in the sarcoplasmic reticulum, which is the principle Ca2+ storage organelle of cardiac muscle
	plays a critical role in mobilizing Ca2+ release from ER/SR lumens (PMID;

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	CASQ2, triadin and junctin form a protein complex that is associated with cardiac ryanodine receptor 2 (RYR2) SR Ca(2+) release channels
	cooperative coordination of Ca2+ between CASQ monomers mediates their oligomerization

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	constant interactions between CASQ2 and ASPH, regardless of the SR Ca(2+) concentration, implying that ASPH is an essential component of the CASQ2 scaffold
	direct interaction exists between RYR2 and CASQ2
	CASQ2 genes may play an important role in the GSK3B-mediated osteoblast apoptosis process

cell & other

REGULATION

Other

mitochondrial stress led to concentration-dependent downregulation of CASQ2 and changes in the Ca(2+) signals of the cardiomyocytes that were accompanied by reduction in SR Ca(2+) content and amplitude and duration of Ca(2+) sparks

ASSOCIATED DISORDERS

corresponding disease(s)

VTSIP2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia constitutional       gain of function in the thyroid of patients with Graves Hyperthyroidism may lead to the production of autoantibodies and sensitized T-lymphocytes, which cross-react with calsequestrin in the extraocular muscle of patients who develop ophthalmopathy constitutional     --over   enhances hypertrophy of neonatal cardiomyocytes, and the perinuclear enriched form of CASQ2 produces a more pronounced effect compared with CASQ2-WT, consistent with their differential contributions to nuclear Ca2+ levels

Susceptibility

to familial hypertrophic cardiomyopathy

Variant & Polymorphism other	variant identified in the CASQ2 gene (Asp63Glu)in familial hypertrophic cardiomyopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS