Gene

casq2

ID

ZDB-GENE-010724-12

Name

calsequestrin 2

Symbol

casq2 Nomenclature History

Previous Names

wu:fa02h03
zgc:86817

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Predicted to have calcium ion binding activity. Predicted to be involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Predicted to localize to Z disc and sarcoplasmic reticulum lumen. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Is expressed in Purkinje cell; adaxial cell; cardiovascular system; musculature system; and somite. Orthologous to human CASQ2 (calsequestrin 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

18 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:6908916 (10 images)
IMAGE:7152523 (6 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With casq2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
catecholaminergic polymorphic ventricular tachycardia 2	Alliance	Ventricular tachycardia, catecholaminergic polymorphic, 2	611938

Associated With casq2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR041858	Calsequestrin, middle TRX-fold domain
Domain	IPR041859	Calsequestrin, N-terminal TRX-fold domain
Domain	IPR041860	Calsequestrin, C-terminal TRX-fold domain
Family	IPR001393	Calsequestrin
Homologous_superfamily	IPR036249	Thioredoxin-like superfamily