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Cstb Gene Detail
Summary
  • Symbol
    Cstb
  • Name
    cystatin B
  • Synonyms
    Stfb
  • Feature Type
    protein coding gene
  • IDs
    MGI:109514
    NCBI Gene: 13014
  • Gene Overview
    MyGene.info: CSTB
Location & Maps
more
  • Sequence Map
    Chr10:78425670-78427619 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1950 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CSTB, cystatin B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CSTB, cystatin B
    Orthology source: HomoloGene
  • Synonyms
    CST6, EPM1, EPM1A, PME, STFB, ULD
  • Links
    NCBI Gene ID: 1476
    neXtProt AC: NX_P04080

  • Chr Location
    21q22.3; chr21:43773665-43776375 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cstb mouse models; 1 with human CSTB associations

Human Disease Mouse Models
       Myoclonic Epilepsy of Unverricht and Lundborg   OMIM: 254800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 3 genetic backgrounds
    7 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    7
  • Genomic Mutations
    4 involving Cstb
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000005054 Ensembl Gene Model | MGI Sequence Detail 1950 C57BL/6J ±  kb
transcript ENSMUST00000005185 Ensembl | MGI Sequence Detail 599 Not Applicable  
polypeptide ENSMUSP00000005185 Ensembl | MGI Sequence Detail 98 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    37 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000005974 cystatin-B
  • InterPro Domains
    IPR000010 Cystatin domain
    IPR001713 Proteinase inhibitor I25A, stefin A
    IPR018073 Proteinase inhibitor I25, cystatin, conserved site
Molecular
Reagents
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  • All nucleic 150
    Genomic 15
    cDNA 130
    Primer pair 5

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-36173, MGD-MRK-39513, MGI:2143513
References
more
  • Summaries
    All 57
    Developmental Gene Expression 6
    Diseases 6
    Gene Ontology 5
    Phenotypes 34
  • Earliest
    J:36729 Pennacchio LA, et al., Isolation and characterization of the mouse cystatin B gene [letter]. Genome Res. 1996 Nov;6(11):1103-9
  • Latest
    J:218289 Okuneva O, et al., Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. Glia. 2015 Mar;63(3):400-11

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory