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calsequestrin-2; calsequestrin, cardiac muscle isoform (CASQ2)
Function:
- high-capacity, moderate affinity, Ca+2-binding protein
- acts as an internal Ca+2 store in muscle
- release of Ca+2 bound to calsequestrin through a Ca+2 release channel triggers muscle contraction
- binds 40-50 Ca+2
Structure:
- monomer, homodimer & homooligomer.
- mostly monomeric in the absence of Ca+2
- forms higher oligomers in a Ca+2-dependent manner
- dimers associate to form tetramers, that then form linear homopolymer chains
- belongs to the calsequestrin family
Compartment:
- sarcoplasmic reticulum lumen
Pathology:
- defects in CASQ2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 2
General
calsequestrin
glycoprotein
Properties
SIZE: entity length = 399 aa
MW = 46 kD
COMPARTMENT: Ca+2 sequestering compartment
MOTIF: signal sequence {1-19}
N-glycosylation site {N335}
acidic region {356-399}
MOTIF: acidic residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 114251
UniProt O14958
Pfam PF01216
Entrez Gene 845
Kegg hsa:845
References
- UniProt :accession O14958
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2
- Wikipedia; Note: calsequestrin entry
http://en.wikipedia.org/wiki/calsequestrin
- OMIM :accession 114251
- Entrez Gene :accession 845