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Cstb
Gene Detail
Symbol

Name
ID
Cstb
cystatin B
MGI:109514
Synonyms
Stfb
Feature Type
protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr10:78425670-78427619 bp, + strand
From Ensembl annotation of GRCm38

  1950 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:79  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 3 zebrafish

Gene Tree: Cstb

Human
homologs
Human Homolog CSTB, cystatin B (stefin B)
NCBI Gene ID 1476
neXtProt AC  NX_P04080
Human Synonyms  CST6, EPM1, EPM1A, PME, STFB, ULD
Human Chr (Location)  21q22.3; chr21:43773665-43776375 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CSTB
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(1) Targeted(7)
Genomic Mutations involving Cstb (3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Cstb (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Cstb interacts with 49 markers (Mir19a, Mir22, Mir135a-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (6 records)
Data Summary: Results (208)    Tissues (162)    Images (30)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 187
RT-PCR 21
cDNA source data(130)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(150) Genomic(15) cDNA(130) Primer pair(5)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000005054 (Evidence)
Entrez Gene13014 (Evidence)
UniGene6095
DFCITC1574817
DoTSDT.537144
NIA Mouse Gene IndexU011699
Consensus CDS ProjectCCDS23964.1
International Mouse Knockout Project StatusCstb
Sequences
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 sequences
All sequences(18) RefSeq(2) UniProt(1)
Polymorphisms
PCR(1) : SNPs within 2kb(40 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001713 Proteinase inhibitor I25A, stefin A
InterPro IPR000010 Proteinase inhibitor I25, cystatin
InterPro IPR018073 Proteinase inhibitor I25, cystatin, conserved site
Protein Ontology PR:000005974 cystatin-B
References
(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:212612 Butinar M, et al., Stefin B deficiency reduces tumor growth via sensitization of tumor cells to oxidative stress in a breast cancer model. Oncogene. 2014 Jun 26;33(26):3392-400
All references(56)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-36173, MGD-MRK-39513, MGI:2143513

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory