Cstb MGI Mouse Gene Detail - MGI:109514

Symbol

Cstb
Name

cystatin B
Synonyms

Stfb

Feature Type

protein coding gene
IDs

MGI:109514
NCBI Gene: 13014
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr10:78261504-78263456 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

6 experiments

SNPs within 2kb

198 from dbSNP Build 142
Strain Annotations

19
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109514	protein coding gene	Chr10:78261503-78263456 (+)
129S1/SvImJ	ENSMUSG00200043433	protein coding gene	Chr10:74939628-74941582 (+)
A/J	ENSMUSG00195042169	protein coding gene	Chr10:75276303-75278256 (+)
AKR/J	ENSMUSG00220045682	protein coding gene	Chr10:74935989-74937942 (+)
BALB/cJ	ENSMUSG00180051490	protein coding gene	Chr10:75290679-75292633 (+)
C3H/HeJ	ENSMUSG00175050996	protein coding gene	Chr10:75161789-75163743 (+)
C57BL/6NJ	ENSMUSG00215050463	protein coding gene	Chr10:74899554-74901507 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015509	protein coding gene	Chr10:72476687-72478636 (+)
CAST/EiJ	ENSTCUG00005048380	protein coding gene	Chr10:74775070-74777032 (+)
CBA/J	ENSMUSG00210049202	protein coding gene	Chr10:75017916-75019870 (+)
DBA/2J	ENSMUSG00185044880	protein coding gene	Chr10:75360271-75362224 (+)
FVB/NJ	ENSMUSG00205048970	protein coding gene	Chr10:75052293-75054246 (+)
JF1/MsJ	ENSUMUG00000017020	protein coding gene	Chr10:76520838-76522795 (+)
LP/J	ENSMUSG00230050208	protein coding gene	Chr10:77129742-77131695 (+)
NOD/ShiLtJ	ENSMUSG00190048621	protein coding gene	Chr10:75337690-75339643 (+)
NZO/HlLtJ	ENSMUSG00225045496	protein coding gene	Chr10:81416705-81418658 (+)
PWK/PhJ	ENSLUMG00010050275	protein coding gene	Chr10:74903013-74904967 (+)
SPRET/EiJ	ENSMSPG00010047062	protein coding gene	Chr10:76683726-76685503 (+)
WSB/EiJ	ENSIUOG00005051095	protein coding gene	Chr10:74936757-74938711 (+)

Human Ortholog

CSTB, cystatin B

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CSTB, cystatin B
Synonyms

CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD
Links

HGNC:2482

NCBI Gene ID: 1476

UniProt: P04080
Chr Location

21q22.3; chr21:43772511-43776579 (-) GRCh38

MGI Vertebrate Homology

Cstb stringent orthology
1 human;1 mouse;1 rat;3 zebrafish
HCOP

vertebrate homology predictions: CSTB
Gene Tree

Cstb

Diseases

1 with Cstb mouse models; 2 with human CSTB associations

Human Disease

Mouse Models

Unverricht-Lundborg syndrome

IDs

View 1 model

progressive myoclonus epilepsy 1A

IDs

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

Mutations/Alleles

1 with disease annotations

References

4 with disease annotations

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Phenotype Summary

38 phenotypes from 3 alleles in 4 genetic backgrounds
7 phenotypes from multigenic genotypes
71 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

13
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Targeted

9
Genomic Mutations

4 involving Cstb
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation provide a model for Unverricht-Lundborg disease (EPM1) by displaying progressive ataxia and myoclonic seizures. Notably, homozygous null mice exhibit apoptosis in cerebellar granule cells, implying that a similar mechanism of cell loss may occur in human EPM1.

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All GO Annotations

28
GO References

8

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

809
Tissues

164
cDNA Data

132
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CSTB

Xenbase cstb

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All Sequences

34
RefSeq

2
UniProt

1
CCDS

CCDS23964.1

Ensembl

ENSMUSG00000005054 (Evidence)
NCBI Gene

13014

			Length	Strain/Species	Flank
genomic	13014	NCBI Gene Model \| MGI Sequence Detail	1953	C57BL/6J	± kb
transcript	NM_007793	RefSeq \| MGI Sequence Detail	620	ZRU/MplStud
polypeptide	Q62426	UniProt \| EBI \| MGI Sequence Detail	98	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005974 cystatin-B

(term hierarchy)
InterPro Domains

IPR000010 Cystatin domain

IPR046350 Cystatin superfamily

IPR001713 Proteinase inhibitor I25A, stefin

IPR018073 Proteinase inhibitor I25, cystatin, conserved site
GlyGen

Q62426 1 site, 1 O-linked glycan (1 site)

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All nucleic 153

Genomic 15

cDNA 132

Primer pair 5

Other 1

Microarray probesets 4

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MGD-MRK-36173, MGD-MRK-39513, MGI:2143513

Summaries

All 114

Developmental Gene Expression 7

Diseases 4

Gene Ontology 8

Phenotypes 71
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:381033 Matjan Stefin P, et al., Stefin B and Cystatin C Deficiency Suppresses Tumor Growth and Alters Tumor Microenvironment in a Breast Cancer Model. Cells. 2026 Feb 17;15(4)

TSS for Cstb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94329	Chr10:78261524-78261563 (+)	40 bp
Tssr94330	Chr10:78261565-78261581 (+)	69 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 09/01/2026 MGI 6.24