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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    37 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109514
 protein coding gene Chr10:78261503-78263456 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017422
 protein coding gene Chr10:78879872-78881818 (+)
A/J MGP_AJ_G0017400
 protein coding gene Chr10:76129374-76131323 (+)
AKR/J MGP_AKRJ_G0017363
 protein coding gene Chr10:78163877-78165826 (+)
BALB/cJ MGP_BALBcJ_G0017362
 protein coding gene Chr10:76292177-76294126 (+)
C3H/HeJ MGP_C3HHeJ_G0017185
 protein coding gene Chr10:78278544-78280494 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017818
 protein coding gene Chr10:81657237-81659185 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015509
 protein coding gene Chr10:72476687-72478636 (+)
CAST/EiJ MGP_CASTEiJ_G0016755
 protein coding gene Chr10:78580346-78582303 (+)
CBA/J MGP_CBAJ_G0017157
 protein coding gene Chr10:84777010-84778960 (+)
DBA/2J MGP_DBA2J_G0017265
 protein coding gene Chr10:75369580-75371528 (+)
FVB/NJ MGP_FVBNJ_G0017257
 protein coding gene Chr10:74549574-74551523 (+)
LP/J MGP_LPJ_G0017336
 protein coding gene Chr10:79322076-79324025 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017284
 protein coding gene Chr10:86748421-86750374 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017860
 protein coding gene Chr10:78214440-78216389 (+)
PWK/PhJ MGP_PWKPhJ_G0016537
 protein coding gene Chr10:75252410-75254360 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016322
 protein coding gene Chr10:77419613-77421567 (+)
WSB/EiJ MGP_WSBEiJ_G0016815
 protein coding gene Chr10:78206897-78208847 (+)



Homology
more
  • Human Ortholog
    CSTB, cystatin B
  • Vertebrate Orthologs
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CSTB, cystatin B
  • Synonyms
    CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD
  • Links
    NCBI Gene ID: 1476
    neXtProt AC: NX_P04080
    UniProt: P04080

  • Chr Location
    21q22.3; chr21:43772511-43776330 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cstb mouse models; 2 with human CSTB associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    33 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    60 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.
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
less
  • All GO Annotations
    19
  • 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
non-membrane-bounded 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
    918
  • Tissues
    164
  • cDNA Data
    132
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 153
      Genomic 15
      cDNA 132
      Primer pair 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-36173, MGD-MRK-39513, MGI:2143513
    References
    more
    • Summaries
      All 97
      Developmental Gene Expression 7
      Diseases 4
      Gene Ontology 6
      Phenotypes 60
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:346331 Gorski K, et al., Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice. Front Mol Neurosci. 2023;16:1175851
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory