Cst3 MGI Mouse Gene Detail - MGI:102519

Symbol

Cst3
Name

cystatin C
Synonyms

CysC

Feature Type

protein coding gene
IDs

MGI:102519
NCBI Gene: 13010
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr2:148713642-148717432 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 73.60 cM
Mapping Data

9 experiments

SNPs within 2kb

260 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102519	protein coding gene	Chr2:148713642-148717612 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026620	protein coding gene	Chr2:153243504-153247474 (-)
A/J	MGP_AJ_G0026584	protein coding gene	Chr2:146993176-146997146 (-)
AKR/J	MGP_AKRJ_G0026558	protein coding gene	Chr2:151243513-151247483 (-)
BALB/cJ	MGP_BALBcJ_G0026596	protein coding gene	Chr2:147424444-147428414 (-)
C3H/HeJ	MGP_C3HHeJ_G0026339	protein coding gene	Chr2:151735343-151739313 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027041	protein coding gene	Chr2:157705628-157709598 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024419	protein coding gene	Chr2:140987132-140991190 (-)
CAST/EiJ	MGP_CASTEiJ_G0025800	protein coding gene	Chr2:152138198-152142183 (-)
CBA/J	MGP_CBAJ_G0026319	protein coding gene	Chr2:163472742-163476712 (-)
DBA/2J	MGP_DBA2J_G0026453	protein coding gene	Chr2:146258401-146262371 (-)
FVB/NJ	MGP_FVBNJ_G0026417	protein coding gene	Chr2:144760493-144764478 (-)
LP/J	MGP_LPJ_G0026557	protein coding gene	Chr2:153363529-153367499 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026437	protein coding gene	Chr2:167515187-167519171 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027096	protein coding gene	Chr2:151245737-151249707 (-)
PWK/PhJ	MGP_PWKPhJ_G0025536	protein coding gene	Chr2:145943136-145947120 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025337	protein coding gene	Chr2:150207711-150211857 (-)
WSB/EiJ	MGP_WSBEiJ_G0025874	protein coding gene	Chr2:152195134-152199085 (-)

Human Ortholog

CST3, cystatin C

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CST3, cystatin C
Synonyms

ARMD11, HEL-S-2
Links

HGNC:2475

NCBI Gene ID: 1471

neXtProt AC: NX_P01034

UniProt: P01034
Chr Location

20p11.21; chr20:23626706-23638473 (-) GRCh38

MGI Vertebrate Homology

Cst3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CST3
Gene Tree

Cst3

Diseases

2 with human CST3 associations

				Human Disease	Mouse Models
				age related macular degeneration 11 IDs age related macular degeneration 11 DOID:0110023 OMIM:611953
				CST3-related cerebral amyloid angiopathy IDs CST3-related cerebral amyloid angiopathy DOID:0070027 OMIM:105150

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

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Phenotype Summary

10 phenotypes from 3 alleles in 4 genetic backgrounds
7 phenotypes from multigenic genotypes
34 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

22
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

13
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Cst3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit increased metastatic potential and decreased susceptibility to ischemic brain injury.

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All GO Annotations

41
GO References

6

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

1062
Tissues

143
cDNA Data

422
Literature Summary

21

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CST3

Xenbase cst3

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All Sequences

53
RefSeq

2
UniProt

4
CCDS

CCDS16852.1

Ensembl

ENSMUSG00000027447 (Evidence)
NCBI Gene

13010

			Length	Strain/Species	Flank
genomic	13010	NCBI Gene Model \| MGI Sequence Detail	3791	C57BL/6J	± kb
transcript	NM_009976	RefSeq \| MGI Sequence Detail	813	ZRU/MplStud
polypeptide	P21460	UniProt \| EBI \| MGI Sequence Detail	140	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000005965 cystatin-C

(term hierarchy)
InterPro Domains

IPR000010 Cystatin domain

IPR046350 Cystatin superfamily

IPR018073 Proteinase inhibitor I25, cystatin, conserved site
GlyGen

P21460 2 sites, 9 N-linked glycans (1 site), 1 O-linked glycan (1 site)

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All nucleic 434

Genomic 1

cDNA 423

Primer pair 9

Other 1

Microarray probesets 3

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MGD-MRK-19357

Summaries

All 99

Developmental Gene Expression 21

Gene Ontology 6

Phenotypes 34
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Cst3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr26691	Chr2:148717543-148717561 (-)	-120 bp
Tssr26690	Chr2:148717524-148717536 (-)	-98 bp
Tssr26689	Chr2:148717372-148717408 (-)	42 bp
Tssr26688	Chr2:148717341-148717364 (-)	79 bp
Tssr26687	Chr2:148714963-148714990 (-)	2,455 bp
Tssr26686	Chr2:148714844-148714859 (-)	2,580 bp
Tssr26685	Chr2:148714791-148714826 (-)	2,623 bp
Tssr26684	Chr2:148713940-148713967 (-)	3,478 bp
Tssr26683	Chr2:148713912-148713930 (-)	3,511 bp
Tssr26682	Chr2:148713871-148713880 (-)	3,556 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