Tbio CASQ2 Calsequestrin-2

Protein Summary

Description

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 subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats. 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 stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O14958
• B2R7M6
• B4DIB0
• Q5T1D2
• Q8TBW8

Gene Name

• CASQ2

Ensembl ID

• ENST00000261448
• ENSP00000261448
• ENSG00000118729

Symbol

• PDIB2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	0.89
biological process	0.88
PubMedID	0.66
tissue	0.52
transcription factor binding site profile	0.5

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 131.1   (req: < 5)

Gene RIFs: 37   (req: <= 3)

Antibodies: 274   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 131.1   (req: >= 5)

Gene RIFs: 37   (req: > 3)

Antibodies: 274   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 22

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (144)

Explore Interacting Targets

1 – 10 of 144

• See Interactions on String-DB

ZBTB21

Tbio

Family:  TF

Novelty:  0.16032292

p_int:  0.999999645

p_ni:  3.55e-7

Data Source:  BioPlex

ASB1

Tdark

Novelty:  0.0931554

p_int:  0.999997594

p_ni:  0.000002403

p_wrong:  3e-9

Score:  0.21

Data Source:  BioPlex,STRINGDB

KLHL11

Tbio

Novelty:  0.1537041

p_int:  0.999993234

p_ni:  0.000006766

Score:  0.16

Data Source:  BioPlex,STRINGDB

FBXW8

Tbio

Novelty:  0.06697145

p_int:  0.999988782

p_ni:  0.000008842

p_wrong:  0.000002376

Data Source:  BioPlex

EPB41L4B

Tbio

Novelty:  0.132572

p_int:  0.99998698

p_ni:  0.000012814

p_wrong:  2.06e-7

Score:  0.204

Data Source:  BioPlex,STRINGDB

CUL7

Tbio

Novelty:  0.02183958

p_int:  0.999956174

p_ni:  0.000043826

Data Source:  BioPlex

DAXX

Tbio

Novelty:  0.00348585

p_int:  0.999868691

p_ni:  0.000131309

Score:  0.185

Data Source:  BioPlex,STRINGDB

PRDM10

Tbio

Family:  TF; Epigenetic

Novelty:  0.03463517

p_int:  0.999848645

p_ni:  0.000151355

Data Source:  BioPlex

MARK3

Tchem

Family:  Kinase

Novelty:  0.01304552

p_int:  0.999768207

p_ni:  0.000231792

Data Source:  BioPlex

ZFP91

Tbio

Family:  TF

Novelty:  0.06937322

p_int:  0.999546644

p_ni:  0.000453236

p_wrong:  1.21e-7

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (3)

KEGG (2)

WikiPathways (1)

Find Similar Targets

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1 – 2 of 2

Data Source	Name	Explore in Pharos	Explore in Source
KEGG	Cardiac muscle contraction	86 targets	path:hsa04260
KEGG	Calcium signaling pathway	195 targets	path:hsa04020

Name	Explore in Pharos	Explore in Source
Cardiac muscle contraction	86 targets	path:hsa04260
Calcium signaling pathway	195 targets	path:hsa04020

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (30)

Functions (3)

Components (8)

Processes (19)

Find Similar Targets

Items per page:

10

1 – 3 of 3

GO Term	Evidence	Assigned by
calcium ion binding	Inferred from Direct Assay (IDA)	UniProtKB
calcium-dependent protein binding	Inferred from Direct Assay (IDA)	UniProtKB
protein homodimerization activity	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL

Disease Associations (null)

No disease associations found

GWAS Traits (8)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 8

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
optic disc size measurement	EFO_0004832	1	2	2		89.2
electrocardiography	EFO_0004327	1	1	20		78
atrial fibrillation	EFO_0000275	2	2	0	1.1	77.6
left atrial function	EFO_0004294	2	1	2		59.5
heart function measurement	EFO_0004311	1	1	1		49.5

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 8

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
optic disc size measurement	EFO_0004832	2		89.2
electrocardiography	EFO_0004327	20		78
atrial fibrillation	EFO_0000275	0	1.1	77.6
left atrial function	EFO_0004294	2		59.5
heart function measurement	EFO_0004311	1		49.5

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Calcium
Complete proteome
Disease mutation
Glycoprotein
Metal-binding
Muscle protein
Phosphoprotein
Polymorphism

GWAS Trait Find Similar Targets

No Header	No Header
atrial fibrillation
electrocardiography
ferritin measurement
gut microbiome measurement
heart function measurement
left atrial function
leukocyte count
optic disc size measurement

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
embryo phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
mortality/aging
muscle phenotype

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	calsequestrin 2	VGNC:5002	457150
Macaque	calsequestrin 2		712373
Mouse	calsequestrin 2	MGI:1309469	12373
Rat	calsequestrin 2	RGD:2276	29209
Dog	calsequestrin 2	VGNC:38739	483134

Species	Name	OMA	EggNOG	Inparanoid
Chimp	calsequestrin 2
Macaque	calsequestrin 2
Mouse	calsequestrin 2
Rat	calsequestrin 2
Dog	calsequestrin 2

Publication Statistics

PubMed Score 131.10

PubMed score by year

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PubTator Score 75.68

PubTator score by year

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Related Publications

Text Mined References (61)

GeneRif Annotations (37)

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10

0 of 0

PMID	Year	Title