About   Help   FAQ
Casq2 Gene Detail
Summary
  • Symbol
    Casq2
  • Name
    calsequestrin 2
  • Synonyms
    cardiac calsequestrin, cCSQ, Csq2, ESTM52
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309469
    NCBI Gene: 12373
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:101993731-102053830 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 44.30 cM, cytoband F3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1649 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1309469
 protein coding gene Chr3:101993731-102053830 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027680
 protein coding gene Chr3:103311186-103370836 (+)
A/J MGP_AJ_G0027639
 protein coding gene Chr3:100013525-100073747 (+)
AKR/J MGP_AKRJ_G0027605
 protein coding gene Chr3:102495827-102557510 (+)
BALB/cJ MGP_BALBcJ_G0027652
 protein coding gene Chr3:99775777-99836899 (+)
C3H/HeJ MGP_C3HHeJ_G0027381
 protein coding gene Chr3:102787677-102846521 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028095
 protein coding gene Chr3:107108481-107174929 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025436
 protein coding gene Chr3:96204297-96263767 (+)
CAST/EiJ MGP_CASTEiJ_G0026837
 protein coding gene Chr3:101902472-101968149 (+)
CBA/J MGP_CBAJ_G0027356
 protein coding gene Chr3:110792373-110856926 (+)
DBA/2J MGP_DBA2J_G0027499
 protein coding gene Chr3:99262206-99321838 (+)
FVB/NJ MGP_FVBNJ_G0027467
 protein coding gene Chr3:97200023-97259274 (+)
LP/J MGP_LPJ_G0027606
 protein coding gene Chr3:104654006-104714993 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027497
 protein coding gene Chr3:116930669-116993485 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028150
 protein coding gene Chr3:101995146-102056765 (+)
PWK/PhJ MGP_PWKPhJ_G0026564
 protein coding gene Chr3:99024960-99085153 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026386
 protein coding gene Chr3:100081261-100144499 (+)
WSB/EiJ MGP_WSBEiJ_G0026917
 protein coding gene Chr3:102549644-102612310 (+)



Homology
more
  • Human Ortholog
    CASQ2, calsequestrin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CASQ2, calsequestrin 2
  • Synonyms
    PDIB2
  • Links
    NCBI Gene ID: 845
    neXtProt AC: NX_O14958
    UniProt: O14958

  • Chr Location
    1p13.1; chr1:115698038-115793195 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Casq2 mouse models; 1 with human CASQ2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 7 alleles in 6 genetic backgrounds
    2 images
    54 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    806
  • Tissues
    56
  • cDNA Data
    95
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12373 NCBI Gene Model | MGI Sequence Detail 60100 C57BL/6J ±  kb
    transcript NM_001355663 RefSeq | MGI Sequence Detail 2593 C57BL/6  
    polypeptide O09161 UniProt | EBI | MGI Sequence Detail 415 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 102
      cDNA 95
      Primer pair 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1334422, MGI:2139975
    References
    more
    • Summaries
      All 108
      Developmental Gene Expression 20
      Diseases 4
      Gene Ontology 10
      Phenotypes 54
    • Earliest
      J:46786 Jones LR, et al., Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin. J Clin Invest. 1998 Apr 1;101(7):1385-93
    • Latest
      J:350439 Tan RL, et al., The missense mutation C667F in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization. Dis Model Mech. 2024 Jun 1;17(6)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory