• Gene id: 845

Gene Summary

• Gene Symbol: CASQ2   Gene   UCSC   Ensembl
• Aliases: PDIB2
• Gene name: calsequestrin 2
• Alternate names: calsequestrin-2, calsequestrin 2 (cardiac muscle), calsequestrin 2, fast-twitch, cardiac muscle, calsequestrin, cardiac muscle isoform,
• Gene location: 1p13.1 (115768713: 115700020)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 114251

Protein Summary

• Protein general information: O14958  
  • Name: Calsequestrin 2 (Calsequestrin, cardiac muscle isoform)
  • Length: 399  
  • Mass: 46436
• Sequence:

  MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQFQLKEI
  VLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGDRTIEFDGEFAADVLVEFLLDLIEDPVEIIS
  SKLEVQAFERIEDYIKLIGFFKSEDSEYYKAFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPI
  AIPNKPYTEEELVEFVKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPD
  LSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELEDWIEDVLSGKINTEDD
  DEDDDDDDNSDEEDNDDSDDDDDE

• Structural information:
  • Interpro: IPR001393  IPR041860  IPR018233  IPR041858  IPR041859   IPR036249  
  • Prosite: PS00863 PS00864
  • CDD: cd03074 cd03066 cd03065
  • PDB: 2VAF
  • PDBsum: 2VAF
  • STRING: ENSP00000261448
• Other Databases: GeneCards:  CASQ2  Malacards:  CASQ2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051279	regulation of release of sequestered calcium ion into cytosol	IBA	biological process
GO:0030018	Z disc	IBA	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IBA	cellular component
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0051258	protein polymerization	IDA	biological process
GO:0048306	calcium-dependent protein binding	IDA	molecular function
GO:0002027	regulation of heart rate	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006941	striated muscle contraction	TAS	biological process
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002027	regulation of heart rate	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0043267	negative regulation of potassium ion transport	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA	biological process
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component
GO:0060306	regulation of membrane repolarization	IEA	biological process
GO:1901017	negative regulation of potassium ion transmembrane transporter activity	IEA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033018	sarcoplasmic reticulum lumen	IC	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051208	sequestering of calcium ion	IDA	biological process
GO:0051258	protein polymerization	IDA	biological process
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity	IDA	biological process
GO:0005513	detection of calcium ion	TAS	biological process
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	biological process
GO:0016529	sarcoplasmic reticulum	ISS	cellular component
GO:0060306	regulation of membrane repolarization	ISS	biological process
GO:0086029	Purkinje myocyte to ventricular cardiac muscle cell signaling	NAS	biological process
GO:1901017	negative regulation of potassium ion transmembrane transporter activity	ISS	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0010649	regulation of cell communication by electrical coupling	IMP	biological process
GO:0014701	junctional sarcoplasmic reticulum membrane	TAS	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0034704	calcium channel complex	TAS	cellular component
GO:0043267	negative regulation of potassium ion transport	ISS	biological process
GO:0051208	sequestering of calcium ion	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity	ISS	biological process
GO:0071313	cellular response to caffeine	IMP	biological process
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Catecholaminergic polymorphic ventricular tachycardia	KEGG:H01019
Catecholaminergic polymorphic ventricular tachycardia	KEGG:H01019
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R