CASQ2
entrez
845
canonical
uniprot
O14958
canonical
ensembl
ENSG00000118729
resolver
ensp
ENSP00000261448
resolver
genesymbol
CASQ2
resolver
hgnc
HGNC:1513
resolver
uniprot
B2R7M6
resolver
uniprot
B4DIB0
resolver
uniprot
Q5T1D2
resolver
uniprot
Q8TBW8
resolver
uniprot_entry
CASQ2_HUMAN
resolver
uniprot_sec
B2R7M6
resolver
uniprot_sec
B4DIB0
resolver
uniprot_sec
Q5T1D2
resolver
uniprot_sec
Q8TBW8
resolver
amino_acid_sequence
MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGDRTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYKAFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEFVKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPDLSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELEDWIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE
uniprot
proteins
disease_involvement
DISEASE: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive. {ECO:0000269|PubMed:11704930, ECO:0000269|PubMed:15485681, ECO:0000269|PubMed:16908766, ECO:0000269|PubMed:17881003, ECO:0000269|PubMed:18399795, ECO:0000269|PubMed:27157848}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 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. {ECO:0000269|PubMed:16908766, ECO:0000269|PubMed:17881003, ECO:0000269|PubMed:18399795, ECO:0000269|PubMed:21416293}.
uniprot
proteins
mass_dalton
46436
uniprot
proteins
post_translational_modification
PTM: Phosphorylation in the C-terminus, probably by CK2, moderately increases calcium buffering capacity. {ECO:0000269|PubMed:21416293}.; PTM: N-glycosylated. {ECO:0000269|PubMed:15485681}.
uniprot
proteins
protein_family
Calsequestrin family
uniprot
proteins
pubmed
11704930
uniprot
proteins
pubmed
14571276
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15485681
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16908766
uniprot
proteins
pubmed
17881003
uniprot
proteins
pubmed
18399795
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21416293
uniprot
proteins
pubmed
27157848
uniprot
proteins
sequence_length
399
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Sarcoplasmic reticulum lumen {ECO:0000250|UniProtKB:O09161}. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of cardiac and slow skeletal muscle cells. {ECO:0000250|UniProtKB:O09161}.
uniprot
proteins