Cast MGI Mouse Gene Detail - MGI:1098236

Symbol

Cast
Name

calpastatin

Feature Type

protein coding gene
IDs

MGI:1098236
NCBI Gene: 12380
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr13:74840487-74956929 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 40.52 cM, cytoband C1
Mapping Data

2 experiments

SNPs within 2kb

3259 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098236	protein coding gene	Chr13:74840485-74956993 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020769	protein coding gene	Chr13:75225897-75333373 (-)
A/J	MGP_AJ_G0020725	protein coding gene	Chr13:72619410-72729358 (-)
AKR/J	MGP_AKRJ_G0020698	protein coding gene	Chr13:74838549-74958110 (-)
BALB/cJ	MGP_BALBcJ_G0020721	protein coding gene	Chr13:73099171-73208460 (-)
C3H/HeJ	MGP_C3HHeJ_G0020515	protein coding gene	Chr13:74533136-74643557 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021158	protein coding gene	Chr13:77748675-77865395 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018726	protein coding gene	Chr13:69513848-69623148 (-)
CAST/EiJ	MGP_CASTEiJ_G0020033	protein coding gene	Chr13:73632233-73750103 (-)
CBA/J	MGP_CBAJ_G0020474	protein coding gene	Chr13:80664111-80796209 (-)
DBA/2J	MGP_DBA2J_G0020599	protein coding gene	Chr13:72367553-72477809 (-)
FVB/NJ	MGP_FVBNJ_G0020579	protein coding gene	Chr13:71409768-71521471 (-)
LP/J	MGP_LPJ_G0020672	protein coding gene	Chr13:75474491-75589883 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020608	protein coding gene	Chr13:79047015-79170408 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021198	protein coding gene	Chr13:74163934-74276889 (-)
PWK/PhJ	MGP_PWKPhJ_G0019786	protein coding gene	Chr13:71246698-71357424 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019609	protein coding gene	Chr13:70541041-70655122 (-)
WSB/EiJ	MGP_WSBEiJ_G0020090	protein coding gene	Chr13:74675500-74794589 (-)

Human Ortholog

CAST, calpastatin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CAST, calpastatin
Synonyms

BS-17, MIR583HG, PLACK
Links

HGNC:1515

NCBI Gene ID: 831

neXtProt AC: NX_P20810

UniProt: P20810
Chr Location

5q15; chr5:95961429-96779595 (+) GRCh38

MGI Vertebrate Homology

Cast stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CAST
Gene Tree

Cast

Diseases

9 with human CAST associations

				Human Disease	Mouse Models
				congenital myasthenic syndrome 1A IDs congenital myasthenic syndrome 1A DOID:0110663 OMIM:601462
				Parkinson's disease IDs Parkinson's disease DOID:14330 ICD10CM:G20 ICD9CM:332 ICD9CM:332.0 KEGG:05012 MESH:D010300 NCI:C26845 OMIM:PS168600 ORDO:2828 UMLS_CUI:C0030567
				pemphigus IDs pemphigus DOID:9182 ICD10CM:L10 ICD9CM:694.4 MESH:D010392 NCI:C34909 UMLS_CUI:C0030807
				PLACK syndrome IDs PLACK syndrome DOID:0070526 OMIM:616295 ORDO:444138 UMLS_CUI:C4225381
				psoriasis IDs psoriasis DOID:8893 EFO:0000676 ICD10CM:L40 MESH:D011565 NCI:C3346 OMIM:PS177900 UMLS_CUI:C0033860
				rheumatoid arthritis IDs rheumatoid arthritis DOID:7148 EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 NCI:C2884 OMIM:180300 UMLS_CUI:C0003873
				Sjogren's syndrome IDs Sjogren's syndrome DOID:12894 DOID:416 ICD10CM:M35.0 ICD9CM:710.2 MESH:D012859 NCI:C26883 NCI:C70647 OMIM:270150 UMLS_CUI:C0086981 UMLS_CUI:C1527336
				systemic lupus erythematosus IDs systemic lupus erythematosus DOID:9074 ICD10CM:M32.9 ICD9CM:710.0 KEGG:05322 MESH:D008180 NCI:C3201 OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 ORDO:536 UMLS_CUI:C0024141
				vasculitis IDs vasculitis DOID:865 MESH:D014657 NCI:C26912 UMLS_CUI:C0042384

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

19 phenotypes from 3 alleles in 3 genetic backgrounds
8 phenotypes from multigenic genotypes
30 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

16
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

6
Targeted

3
Transgenic

3
Genomic Mutations

1 involving Cast
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

63 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knockout allele exhibit augmented DNA fragmentation in CA1 pyramidal neurons following excitotoxic kainate treatment.

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All GO Annotations

20
GO References

7

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

772
Tissues

46
cDNA Data

22
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cast

ZFIN cast

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All Sequences

106
RefSeq

28
UniProt

10
CCDS

CCDS26648.1, CCDS88486.1, CCDS88487.1, CCDS88488.1, CCDS88489.1, CCDS88490.1, CCDS88491.1

Ensembl

ENSMUSG00000021585 (Evidence)
NCBI Gene

12380

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021585	Ensembl Gene Model \| MGI Sequence Detail	116443	C57BL/6J	± kb
transcript	ENSMUST00000223206	Ensembl \| MGI Sequence Detail	5141	Not Applicable
polypeptide	ENSMUSP00000152174	Ensembl \| MGI Sequence Detail	788	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000005060 calpastatin

(term hierarchy)
InterPro Domains

IPR026998 Calpastatin

IPR001259 Proteinase inhibitor I27, calpastatin
GlyGen

P51125 1 site, 1 O-linked glycan (1 site)

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All nucleic 23

cDNA 22

Primer pair 1

Microarray probesets 7

Summaries

All 91

Developmental Gene Expression 6

Gene Ontology 7

Phenotypes 30
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cast:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr123251	Chr13:74956971-74957006 (-)	-60 bp
Tssr123250	Chr13:74956926-74956968 (-)	-18 bp
Tssr123249	Chr13:74956880-74956891 (-)	43 bp
Tssr123248	Chr13:74956852-74956873 (-)	66 bp
Tssr123247	Chr13:74956729-74956799 (-)	165 bp
Tssr123246	Chr13:74956678-74956691 (-)	244 bp
Tssr123245	Chr13:74956663-74956677 (-)	259 bp
Tssr123244	Chr13:74956646-74956659 (-)	276 bp
Tssr123243	Chr13:74956032-74956108 (-)	859 bp
Tssr123242	Chr13:74956003-74956018 (-)	918 bp
Tssr123237	Chr13:74902459-74902486 (-)	54,456 bp
Tssr123236	Chr13:74882374-74882385 (-)	74,549 bp
Tssr123235	Chr13:74882361-74882364 (-)	74,566 bp
Tssr123234	Chr13:74882328-74882358 (-)	74,586 bp
Tssr123233	Chr13:74882314-74882326 (-)	74,609 bp
Tssr123232	Chr13:74875453-74875457 (-)	81,474 bp
Tssr123231	Chr13:74873572-74873586 (-)	83,350 bp
Tssr123230	Chr13:74873527-74873538 (-)	83,396 bp

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