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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	845
Gene name Gene Name - the full gene name approved by the HGNC.	Calsequestrin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CASQ2
Synonyms (NCBI Gene) Gene synonyms aliases	PDIB2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p13.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Catecholaminergic Polymorphic Ventricular Tachycardia	Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, catecholaminergic polymorphic ventricular tachycardia	rs375598471, rs121434549, rs139228801, rs776874142, rs786205106, rs775663612, rs786205791, rs1436844070, rs121434550, rs754834466, rs786205799, rs397507555, rs749547712, rs763955301, rs1553197939 View all (8 more)	N/A
Long QT Syndrome	long qt syndrome	rs397507556	N/A
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	rs1553197939	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
cardiac arrhythmia	Cardiac arrhythmia	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Dementia	Dementia	N/A	N/A	GWAS
Heart Block	Progressive familial heart block	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)