Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	845
Gene name	Calsequestrin 2
Gene symbol	CASQ2
Synonyms (NCBI Gene)	PDIB2
Chromosome	1
Chromosome location	1p13.1
Summary	The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stor

Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434549	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121434550	A>T	Pathogenic	Missense variant, coding sequence variant
rs139228801	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139281637	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Intron variant
rs141314684	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146664754	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147941846	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs148057999	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs148824162	T>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs199939582	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs200643387	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375598471	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs397507555	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397507556	G>A,T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397516641	GTC>-	Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, inframe deletion
rs397516643	TGA>GT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs756636650	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs757789935	A>G	Pathogenic	Splice donor variant
rs762381137	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs763955301	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775663612	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs776874142	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs786205106	AAGAATATACAGGCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205791	C>G	Pathogenic	Splice donor variant
rs786205792	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs786205795	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205799	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs876657635	C>A	Likely-pathogenic	Splice acceptor variant
rs886039816	T>C	Pathogenic	Coding sequence variant, missense variant
rs905985075	C>A,G,T	Pathogenic	Splice donor variant
rs1060502164	T>C	Likely-pathogenic	Splice acceptor variant
rs1436844070	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1471576368	C>A	Pathogenic	Coding sequence variant, stop gained
rs1553197939	A>G	Likely-pathogenic	Initiator codon variant, missense variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021966	hsa-miR-128-3p	Microarray	17612493
MIRT739627	hsa-miR-124	CLIP-seq
MIRT739626	hsa-miR-506	CLIP-seq
MIRT1956171	hsa-miR-1231	CLIP-seq
MIRT739627	hsa-miR-124	CLIP-seq
MIRT1956172	hsa-miR-1976	CLIP-seq
MIRT1956173	hsa-miR-3692	CLIP-seq
MIRT1956174	hsa-miR-370	CLIP-seq
MIRT1956175	hsa-miR-421	CLIP-seq
MIRT1956176	hsa-miR-4288	CLIP-seq
MIRT1956177	hsa-miR-4427	CLIP-seq
MIRT1956178	hsa-miR-4502	CLIP-seq
MIRT1956179	hsa-miR-4680-3p	CLIP-seq
MIRT1956180	hsa-miR-483-3p	CLIP-seq
MIRT739626	hsa-miR-506	CLIP-seq
MIRT1956181	hsa-miR-632	CLIP-seq
MIRT2193830	hsa-miR-4476	CLIP-seq
MIRT2193831	hsa-miR-4786-3p	CLIP-seq
MIRT2193832	hsa-miR-671-5p	CLIP-seq
MIRT739627	hsa-miR-124	CLIP-seq
MIRT739626	hsa-miR-506	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	15485681, 16601229, 16908766
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	16601229, 16908766, 17881003
GO:0005509	Function	Calcium ion binding	IEA
GO:0005513	Process	Detection of calcium ion	TAS	22123818
GO:0005515	Function	Protein binding	IPI	22123818, 32296183
GO:0005737	Component	Cytoplasm	IDA	22123818
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	16908766
GO:0006941	Process	Striated muscle contraction	TAS	9795116
GO:0010649	Process	Regulation of cell communication by electrical coupling	IMP	16908766
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA	16601229
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	16601229, 16908766
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0033018	Component	Sarcoplasmic reticulum lumen	IBA
GO:0033018	Component	Sarcoplasmic reticulum lumen	IC	16908766
GO:0033018	Component	Sarcoplasmic reticulum lumen	IEA
GO:0034704	Component	Calcium channel complex	TAS	19403607
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043267	Process	Negative regulation of potassium ion transport	ISS	21063088
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IDA	15485681
GO:0051208	Process	Sequestering of calcium ion	IDA	16601229
GO:0051258	Process	Protein polymerization	IDA	17881003, 22123818
GO:0051258	Process	Protein polymerization	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	16908766
GO:0060306	Process	Regulation of membrane repolarization	ISS	21063088
GO:0071313	Process	Cellular response to caffeine	IMP	16908766
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	NAS	22198169
GO:0140314	Function	Calcium ion sequestering activity	IDA	21416293
GO:0140314	Function	Calcium ion sequestering activity	IMP	16908766
GO:1905024	Process	Regulation of membrane repolarization during ventricular cardiac muscle cell action potential	ISS	21063088

MIM	HGNC	e!Ensembl
114251	1513	ENSG00000118729

O14958

Protein name

Calsequestrin-2 (Calsequestrin, cardiac muscle isoform)

Protein function

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between

PDB

2VAF , 6OWV , 6OWW , 7F05

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01216	Calsequestrin	2 → 382	Calsequestrin	Family

Sequence

MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPV
SSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGD
RTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYK
AFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEF
VKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPD
LSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELED
WIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE

Sequence length

399

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Cardiac muscle contraction		Stimuli-sensing channels Ion homeostasis

1088

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1647617368, rs758748280, rs746128346, rs1202663155, rs2464840483, rs1207800938, rs2526105965, rs139228801, rs2526031776, rs763955301, rs529562535, rs368728701, rs1060502164, rs1436844070, rs397507556, rs905985075, rs775663612 View all (2 more)	RCV002378353 RCV004601556 RCV002370607 RCV002346791 RCV002371415 RCV002437226 RCV002417068 RCV000618569 RCV003367941 RCV003165506 RCV003301708 RCV005311086 RCV000618299 RCV000618128 RCV005305949 RCV000620389 RCV002354893
Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic; Pathogenic	rs876657635, rs905985075, rs397516643, rs754834466, rs749547712	RCV000222785 RCV004788035 RCV000037145 RCV001065165 RCV004773290
Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic; Pathogenic	rs1647617368, rs1338756025, rs1654250819, rs758748280, rs767023791, rs746128346, rs1459829853, rs2464840483, rs2526105965, rs1553191909, rs139228801, rs786205791, rs786205799, rs753636068, rs2526031776 View all (32 more)	RCV003526161 RCV002549041 RCV002564387 RCV002550401 RCV002560503 RCV002569140 RCV002550446 RCV003526171 RCV003526193 RCV002516551 RCV002516550 RCV002517644 RCV002492705 RCV002634308 RCV003020425 RCV000208054 RCV002503848 RCV003777184 RCV003525656 RCV003526716 RCV003527438 RCV003526235 RCV003526573 RCV003639505 RCV003639646 RCV003639703 RCV003639856 RCV003638196 RCV003639268 RCV003639272 RCV003844652 RCV003854512 RCV003872005 RCV002513117 RCV005358111 RCV003103779 RCV002527048 RCV002526063 RCV003638676 RCV002529041 RCV002482945 RCV005428996 RCV002506505 RCV002537226 RCV002537337 RCV002550596 RCV002554554 RCV002561780
Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic; Likely pathogenic	rs1366771173, rs1647617368, rs1459829853, rs758748280, rs746128346, rs1202663155, rs139228801, rs786205791, rs786205799, rs753636068, rs763955301, rs876657635, rs2464893043, rs1342655330, rs2526031953 View all (13 more)	RCV001335768 RCV005002831 RCV001780719 RCV002482548 RCV003348689 RCV005002829 RCV003343669 RCV003338440 RCV002492705 RCV005011096 RCV003338461 RCV002503848 RCV003141188 RCV003234851 RCV003236758 RCV000019176 RCV000019177 RCV000019178 RCV004555775 RCV003338598 RCV000497882 RCV000497364 RCV003338669 RCV000033941 RCV000033942 RCV002506505 RCV000986400 RCV003339457
Long QT syndrome	Likely pathogenic; Pathogenic	rs397507556	RCV003318336
Wolff-Parkinson-White pattern	Likely pathogenic; Pathogenic	rs1553197939	RCV001796094

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs34065642	RCV005902241
Cardiac arrhythmia	Benign; Likely benign	rs28730716	RCV001841524
Cardiomyopathy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs940257382, rs2101101070, rs1557789393, rs146074006, rs72554057, rs141314684, rs146664754, rs727502908, rs72554069, rs28730713, rs200899037, rs375598471, rs56889721, rs770571012, rs28730716 View all (8 more)	RCV001799068 RCV001799145 RCV001799146 RCV003150484 RCV001798501 RCV001170441 RCV000852589 RCV000768704 RCV001170439 RCV001170440 RCV000768698 RCV003150158 RCV001798817 RCV001170446 RCV000768702 RCV000768701 RCV001170443 RCV001798932 RCV000769724 RCV000769723 RCV000768706 RCV000768705 RCV000768703 RCV001170216 RCV001170442 RCV001170445 RCV001170447 RCV001170444
CASQ2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs146664754, rs1060504495, rs56889721, rs776008006, rs139281637, rs146333579	RCV003945182 RCV003942549 RCV003917987 RCV003965307 RCV003952428 RCV004757956
Cervical cancer	Likely benign; Uncertain significance	rs72554064, rs72703671	RCV005916117 RCV005891476
Conduction disorder of the heart	Conflicting classifications of pathogenicity	rs750159744	RCV001256930
Hepatocellular carcinoma	Benign	rs9428083	RCV005889063
Malignant lymphoma, large B-cell, diffuse	Benign	rs10127797	RCV005915808
Polymorphic ventricular tachycardia	Conflicting classifications of pathogenicity	rs146664754	RCV000171562
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs397516641	RCV000852588
Progressive familial heart block	Conflicting classifications of pathogenicity	rs368007942	RCV002285273
Sarcoma	Uncertain significance	rs72703671	RCV005891477
Sudden unexplained death	Conflicting classifications of pathogenicity	rs146664754	RCV000999608
Thymoma	Benign	rs34065642	RCV005902242
Uterine carcinosarcoma	Benign	rs3811004	RCV005906869

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	12386154, 21685173, 24444446, 26625541, 34338756
Atrial Fibrillation	Associate	24120998, 34338756
Breast Neoplasms	Associate	34743414
Brugada Syndrome	Associate	26230511, 37114354, 39940965
Carcinogenesis	Associate	34743414
Cardiomyopathy Hypertrophic	Associate	22515980
Channelopathies	Associate	35543671, 35932045
Coronary Artery Disease	Associate	21685173, 24444446, 26196381
Coronary Disease	Associate	23171141
Death Sudden	Associate	21685173, 23171141
Death Sudden Cardiac	Associate	21685173, 24444446, 26196381, 31482657, 32693635
Heart Arrest	Associate	32693635
Heart Diseases	Associate	24427266
Heart Failure	Associate	24444446, 26196381, 37349842
Lateral meningocele syndrome	Associate	21412072
Leiomyosarcoma	Associate	19901961
Long QT Syndrome	Associate	35543671
Multiple Pterygium Syndrome Autosomal Dominant	Associate	31039485
Myotonic Dystrophy	Associate	22758909
Neoplasm Metastasis	Stimulate	34743414
Neoplasms	Associate	24889065, 34743414
Polymorphic catecholergic ventricular tachycardia	Associate	12386154, 22050625, 23595086, 26153920, 26625541, 27711080, 28158428, 28404607, 29178653, 31039485, 31482657, 32693635, 34557911, 39378715, 39826349
Rectal Neoplasms	Associate	33833937
Syncope	Associate	12386154, 31482657, 32693635
Tachycardia Ventricular	Associate	29178653, 31482657, 37114354
Takotsubo Cardiomyopathy	Associate	39378715
Triple Negative Breast Neoplasms	Associate	34743414

CASQ2 (calsequestrin 2)