Details for: CASQ2

Gene ID: 845

Symbol: CASQ2

Ensembl ID: ENSG00000118729

Description: calsequestrin 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 9.4153
    Cell Significance Index: 41.6800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 5.5656
    Cell Significance Index: 46.7500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 4.8165
    Cell Significance Index: 117.5200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 4.0384
    Cell Significance Index: 46.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.7807
    Cell Significance Index: 290.1200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.9985
    Cell Significance Index: 51.3700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.9074
    Cell Significance Index: 28.1600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.6142
    Cell Significance Index: 9.9100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.3248
    Cell Significance Index: 5.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.2985
    Cell Significance Index: 31.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2527
    Cell Significance Index: 114.7100
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.1927
    Cell Significance Index: 1.5400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1226
    Cell Significance Index: 2.6200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1039
    Cell Significance Index: 1.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0775
    Cell Significance Index: 53.5900
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.0760
    Cell Significance Index: 0.8500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0747
    Cell Significance Index: 1.2800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0444
    Cell Significance Index: 83.5800
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.0105
    Cell Significance Index: 0.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0006
    Cell Significance Index: -0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0022
    Cell Significance Index: -4.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0028
    Cell Significance Index: -4.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0028
    Cell Significance Index: -3.8000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0057
    Cell Significance Index: -3.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0074
    Cell Significance Index: -1.0800
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0074
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0074
    Cell Significance Index: -5.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0082
    Cell Significance Index: -2.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0094
    Cell Significance Index: -5.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0097
    Cell Significance Index: -6.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0105
    Cell Significance Index: -5.9200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0125
    Cell Significance Index: -2.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0152
    Cell Significance Index: -5.4400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0209
    Cell Significance Index: -2.6800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0211
    Cell Significance Index: -0.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0212
    Cell Significance Index: -3.6200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0215
    Cell Significance Index: -4.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0285
    Cell Significance Index: -6.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0350
    Cell Significance Index: -4.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0382
    Cell Significance Index: -5.2400
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0390
    Cell Significance Index: -0.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0423
    Cell Significance Index: -5.4600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0433
    Cell Significance Index: -0.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0434
    Cell Significance Index: -4.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0451
    Cell Significance Index: -5.1700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0462
    Cell Significance Index: -1.1200
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0630
    Cell Significance Index: -0.8300
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0722
    Cell Significance Index: -1.0800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0733
    Cell Significance Index: -5.4600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0739
    Cell Significance Index: -3.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0831
    Cell Significance Index: -4.6700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0861
    Cell Significance Index: -5.7900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0874
    Cell Significance Index: -4.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0877
    Cell Significance Index: -4.0900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0882
    Cell Significance Index: -5.4200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0918
    Cell Significance Index: -4.7800
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.1044
    Cell Significance Index: -1.2300
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.1070
    Cell Significance Index: -1.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1130
    Cell Significance Index: -5.3100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1160
    Cell Significance Index: -4.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1184
    Cell Significance Index: -3.3100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1191
    Cell Significance Index: -1.7100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1231
    Cell Significance Index: -4.0300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1352
    Cell Significance Index: -2.8300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1358
    Cell Significance Index: -3.4600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1364
    Cell Significance Index: -4.3500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1370
    Cell Significance Index: -3.7300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1384
    Cell Significance Index: -5.0800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1390
    Cell Significance Index: -6.1500
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1451
    Cell Significance Index: -4.5900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1517
    Cell Significance Index: -5.3300
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1543
    Cell Significance Index: -2.0800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1600
    Cell Significance Index: -5.5600
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.1604
    Cell Significance Index: -2.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1632
    Cell Significance Index: -6.1800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1667
    Cell Significance Index: -2.4300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1711
    Cell Significance Index: -4.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1713
    Cell Significance Index: -3.7500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1748
    Cell Significance Index: -4.3600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1833
    Cell Significance Index: -4.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1860
    Cell Significance Index: -5.3600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1866
    Cell Significance Index: -2.4200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1880
    Cell Significance Index: -5.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1905
    Cell Significance Index: -5.6100
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.1933
    Cell Significance Index: -2.0700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1954
    Cell Significance Index: -5.5800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1981
    Cell Significance Index: -5.2900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2024
    Cell Significance Index: -8.2900
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.2049
    Cell Significance Index: -2.8100
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.2057
    Cell Significance Index: -2.3900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2066
    Cell Significance Index: -3.0500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2073
    Cell Significance Index: -5.1700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2088
    Cell Significance Index: -5.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2116
    Cell Significance Index: -4.1300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.2161
    Cell Significance Index: -2.8800
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.2175
    Cell Significance Index: -2.6900
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2244
    Cell Significance Index: -3.6400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2262
    Cell Significance Index: -3.9000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2268
    Cell Significance Index: -4.6200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2273
    Cell Significance Index: -4.8300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CASQ2 is a calcium-dependent protein that exhibits high affinity for calcium ions, allowing it to sequester and store these ions within the sarcoplasmic reticulum. The protein exists as a homodimer, consisting of two identical subunits, and is highly expressed in cardiac muscle cells, as well as in other tissues such as skeletal muscle, smooth muscle, and hematopoietic stem cells. CASQ2 is also involved in the regulation of cardiac conduction, muscle contraction, and cell communication by electrical coupling. **Pathways and Functions:** CASQ2 is embedded in the junctional sarcoplasmic reticulum membrane, where it regulates the release of sequestered calcium ions into the cytosol. This process is crucial for the contraction of cardiac muscle cells and the maintenance of cardiac rhythm. The dysregulation of CASQ2 can lead to an imbalance in calcium ion homeostasis, resulting in abnormal cardiac function and arrhythmias. The protein also interacts with other calcium channels and transporters, modulating their activity and regulating the release of calcium ions. For instance, CASQ2 negatively regulates the activity of ryanodine-sensitive calcium-release channels, which are essential for the contraction of skeletal muscle and cardiac muscle cells. Furthermore, CASQ2 is involved in the regulation of cardiac muscle contraction by regulating the release of sequestered calcium ions, as well as in the regulation of heart rate and membrane repolarization. **Clinical Significance:** Dysregulation of CASQ2 has been implicated in various cardiac disorders, including: 1. **Arrhythmias:** Mutations in the CASQ2 gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a condition characterized by abnormal cardiac rhythm and heart failure. 2. **Cardiac Conduction Disorders:** CASQ2 mutations have been linked to conduction disorders, such as long QT syndrome, which can lead to life-threatening arrhythmias. 3. **Cardiomyopathies:** CASQ2 dysregulation has been implicated in various cardiomyopathies, including dilated cardiomyopathy and hypertrophic cardiomyopathy. 4. **Heart Failure:** Mutations in the CASQ2 gene have been associated with heart failure, particularly in patients with ARVC. In conclusion, CASQ2 is a critical protein involved in the regulation of intracellular calcium ion homeostasis in cardiac muscle cells. The dysregulation of CASQ2 has significant clinical implications, highlighting the importance of this gene in the development of various cardiac disorders. Further research is necessary to understand the mechanisms underlying CASQ2 dysfunction and to develop effective therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 3408538348

Symbol: CASQ2_HUMAN

Name: Calsequestrin-2

UniProtKB Accession Codes:

O14958 B2R7M6 B4DIB0 Q5T1D2 Q8TBW8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 3 EMBL 7 Ensembl 1 EvolutionaryTrace 1 GO 27 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21416293

Title: Phosphorylation of human calsequestrin: implications for calcium regulation.

PubMed ID: 21416293

DOI: 10.1007/s11010-011-0787-4

PubMed ID: 17881003

Title: Characterization of human cardiac calsequestrin and its deleterious mutants.

PubMed ID: 17881003

DOI: 10.1016/j.jmb.2007.08.055

PubMed ID: 11704930

Title: A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

PubMed ID: 11704930

DOI: 10.1086/324565

PubMed ID: 14571276

Title: Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.

PubMed ID: 14571276

DOI: 10.1038/sj.ejhg.5201061

PubMed ID: 15485681

Title: Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium.

PubMed ID: 15485681

DOI: 10.1016/j.cardiores.2004.09.009

PubMed ID: 16908766

Title: Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.

PubMed ID: 16908766

DOI: 10.1161/circulationaha.106.623793

PubMed ID: 18399795

Title: Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.

PubMed ID: 18399795

DOI: 10.1042/bj20080163

PubMed ID: 27157848

Title: A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

PubMed ID: 27157848

DOI: 10.1016/j.hrthm.2016.05.004

Sequence Information:

  • Length: 399
  • Mass: 46436
  • Checksum: 7794DC2FF7E4B064
  • Sequence:
    • MKRTHLFIVG IYFLSSCRAE EGLNFPTYDG KDRVVSLSEK NFKQVLKKYD LLCLYYHEPV 
SSDKVTQKQF QLKEIVLELV AQVLEHKAIG FVMVDAKKEA KLAKKLGFDE EGSLYILKGD 
RTIEFDGEFA ADVLVEFLLD LIEDPVEIIS SKLEVQAFER IEDYIKLIGF FKSEDSEYYK 
AFEEAAEHFQ PYIKFFATFD KGVAKKLSLK MNEVDFYEPF MDEPIAIPNK PYTEEELVEF 
VKEHQRPTLR RLRPEEMFET WEDDLNGIHI VAFAEKSDPD GYEFLEILKQ VARDNTDNPD 
LSILWIDPDD FPLLVAYWEK TFKIDLFRPQ IGVVNVTDAD SVWMEIPDDD DLPTAEELED 
WIEDVLSGKI NTEDDDEDDD DDDNSDEEDN DDSDDDDDE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.