CASQ2 calsequestrin 2 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: CASQ2provided by VGNC
Official Full Name: calsequestrin 2provided by VGNC
Primary source: VGNC:VGNC:38739
See related: Ensembl:ENSCAFG00845028062
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Also known as: CAL
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 17

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	17	NC_051821.1 (54114995..54180159, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	17	NC_006599.4 (52883024..52948138, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	17	NC_049238.1 (53761968..53827341, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	17	NC_049277.1 (53153853..53218892, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	17	NC_049758.1 (53188593..53253716, complement)

Chromosome 17 - NC_051821.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Processing of CSQ2 may be an adaptive response to the myocardium under stresses that are capable of inducing heart failure.
Title: Altered calsequestrin glycan processing is common to diverse models of canine heart failure.
CASQ2. The arrhythmogenic CASQ2(D307H) mutation impairs SR Ca2+ storing & release & destabilizes the Ca2+-induced Ca2+ release mechanism by reducing Ca2+ buffering in the SR and/or by altering the responsiveness of the release channel to luminal Ca2+.
Title: Abnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrin.
there are undesirable and damaging interactions between canine calsequestrins and tricyclic antidepressants, phenothiazine derivatives, anthracyclines, and many other pharmaceutical compounds.
Title: Interaction between cardiac calsequestrin and drugs with known cardiotoxicity.

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General gene information

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Markers

D17Cor10 (e-PCR)
- UniSTS:510494

D17Cor8 (e-PCR)
- UniSTS:510496

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: calsequestrin-2

Names: cardiac calsequestrin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001313816.2 → NP_001300745.1 calsequestrin-2 precursor

Status: VALIDATED

Source sequence(s)

JAAUVH010000359

UniProtKB/Swiss-Prot

P12637

UniProtKB/TrEMBL

A0A8C0L9K1

Related

ENSCAFP00845038867.1, ENSCAFT00845049542.1

Conserved Domains (1) summary

pfam01216
Location:22 → 371

Calsequestrin; Calsequestrin