ENSMUSG00000005054


Mus musculus

Features
Gene ID: ENSMUSG00000005054
  
Biological name :Cstb
  
Synonyms : Cstb / Cystatin-B / Q62426
  
Possible biological names infered from orthology : P04080
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: C1
Gene start: 78425669
Gene end: 78427622
  
Corresponding Affymetrix probe sets: 10364375 (MoGene1.0st)   1422506_a_at (Mouse Genome 430 2.0 Array)   1422507_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000005185
NCBI entrez gene - 13014     See in Manteia.
MGI - MGI:109514
RefSeq - NM_007793
RefSeq Peptide - NP_031819
swissprot - Q62426
Ensembl - ENSMUSG00000005054
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cst14a.1ENSDARG00000028164Danio rerio
 cst14a.2ENSDARG00000045352Danio rerio
 cst14b.1ENSDARG00000117133Danio rerio
 CSTBENSGALG00000014410Gallus gallus
 CSTBENSG00000160213Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
2010005H15Rik / RIKEN cDNA 2010005H15 gene / CSTA* / P01040* / cystatin A*ENSMUSG0000009562055
Gm5483 / CSTA* / P01040* / cystatin A*ENSMUSG0000007959755
Csta1 / P56567 / Cystatin-A / CSTA* / P01040*ENSMUSG0000003436251
Gm5689 / CSTA* / P01040* / cystatin A*ENSMUSG0000003433951
Gm4758 / CSTA* / P01040* / cystatin A*ENSMUSG0000007959548
Stfa2l1 / CSTA* / P01040* / cystatin A*ENSMUSG0000005965747
BC117090 / cDNA sequence BC1179090 / CSTA* / P01040* / cystatin A*ENSMUSG0000007959446
Stfa2 / P35174 / stefin A2 / CSTA* / P01040* / cystatin A*ENSMUSG0000002290246
BC100530 / cDNA sequence BC100530 / CSTA* / P01040* / cystatin A*ENSMUSG0000007156144
Stfa3 / P35173 / stefin A3 / CSTA* / P01040* / cystatin A*ENSMUSG0000005490544
Gm5416 / CSTA* / P01040* / cystatin A*ENSMUSG0000009473343
Stfa1 / P35175 / stefin A1 / CSTA* / P01040* / cystatin A*ENSMUSG0000007156242


Protein motifs (from Interpro)
Interpro ID Name
 IPR000010  Cystatin domain
 IPR001713  Proteinase inhibitor I25A, stefin
 IPR018073  Proteinase inhibitor I25, cystatin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008344 adult locomotory behavior IMP
 biological_processGO:0010466 negative regulation of peptidase activity ISO
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0045861 negative regulation of proteolysis IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0002020 protease binding IEA
 molecular_functionGO:0004866 endopeptidase inhibitor activity ISO
 molecular_functionGO:0004869 cysteine-type endopeptidase inhibitor activity ISO
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000243 myoclonus "involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000851 cerebellum hypoplasia "reduced cell number in the cerebellum" [MGI:CLS, J:45302]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0001312 abnormal cornea morphology "malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001313 increased incidence of corneal inflammation "greater than average and persistent occurrence of corneal irritation" [J:4606]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0001316 corneal scarring "appearance of fibrous tissue on the cornea after healing in response to injury " [J:30249]
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Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0001648 abnormal apoptosis "excessive or absent cell death in a particular tissue or cell type" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:25248]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bidtm1Sjk/Bidtm1Sjk
Genetic Background: involves: 129X1/Sv * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0004098 abnormal granule neuron "any structural anomaly of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004994 abnormal brain wave pattern "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bidtm1Sjk/Bidtm1Sjk,Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Cstbtm1Rm/Cstbtm1Rm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0005515 uveitis "inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina)" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

 MP:0030143 facial muscle spasm "sudden, repetitive, nonrhythmic motor movements (spasms) involving the muscles of the face; common types of facial spasms include rapid, repetitive squinting or blinking, grimacing, mouth twitching, and nose twitching" [HP:0011468, https://www.healthgrades.com/symptoms/facial-spasms]
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Allelic Composition: Cbx2tm1Ykf/Cbx2tm1Ykf
Genetic Background: involves: 129S2/SvPas * C57BL/6NJcl

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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