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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CSTB Gene

protein-coding   GIFtS: 65
GCID: GC21M045192

Cystatin B (Stefin B)


(Previous symbols: EPM1, STFB)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Cystatin B (Stefin B)1 2     Cystatin B (Liver Thiol Proteinase Inhibitor)11
STFB1 2 3 5     EPM1A2
EPM11 2 5     PME2
Liver Thiol Proteinase Inhibitor2 3     ULD2
CPI-B2 3     cystatin-B2
CST62 3     Stefin-B3

External Ids:    HGNC: 24821   Entrez Gene: 14762   Ensembl: ENSG000001602137   OMIM: 6011455   UniProtKB: P040803   

Export aliases for CSTB gene to outside databases

Previous GC identifers: GC21M041703 GC21M044050 GC21M044018 GC21M030562


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CSTB Gene:
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members
are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory
activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type
2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease
inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins
l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes.
Evidence indicates that mutations in this gene are responsible for the primary defects in patients with
progressive myoclonic epilepsy (EPM1). (provided by RefSeq, Jul 2008)

GeneCards Summary for CSTB Gene: 
CSTB (cystatin B (stefin B)) is a protein-coding gene. Diseases associated with CSTB include unverricht-lundborg syndrome, and myoclonus epilepsy. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is CSTA.

UniProtKB/Swiss-Prot: CYTB_HUMAN, P04080
Function: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins
L, H and B

Gene Wiki entry for CSTB (Cystatin B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CSTB gene promoter:
         USF1   USF2   AP-4   USF-1:USF-2   SREBP-1b   Max   SREBP-1a   USF-1   ATF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSTB promoter sequence

   Search SABiosciences Chromatin IP Primers for CSTB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSTB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
CSTB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSTB gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M045192:   GeneLoc Nature:405,311-319
Start:
45,192,393 bp from pter       30,703,222 bp from centromere
End:
45,196,326 bp from pter 30,705,637 bp from centromere
Size:
3,934 bases 2,416 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: L03558
genomic clones: KB836E9


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CYTB_HUMAN, P04080 (See protein sequence)
Recommended Name: Cystatin-B  
Size: 98 amino acids; 11140 Da
Subunit: Able to form dimers stabilized by noncovalent forces
Subcellular location: Cytoplasm. Nucleus
2 PDB 3D structures from and Proteopedia for CSTB:
1STF (3D)        2OCT (3D)    

Explore the universe of human proteins at neXtProt for CSTB: NX_P04080

Explore proteomics data for CSTB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04080

  • CSTB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CSTB Protein Expression
    REFSEQ proteins: NP_000091.1  
    ENSEMBL proteins: 
     ENSP00000291568  

    Human Recombinant Protein Products for CSTB: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CSTB
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    Novus Biologicals CSTB Proteins
    Novus Biologicals CSTB Lysates
    Sino Biological Recombinant Protein for CSTB
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CSTB
    Cloud-Clone Corp. Proteins for CSTB 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    CSTB for ontologies           About GeneDecksing



    CSTB Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for CSTB 

    Assay Products for CSTB: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for CSTB (Cystatin B)
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    Cloud-Clone Corp. ELISAs for CSTB 
    Cloud-Clone Corp. CLIAs for CSTB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR001713 Prot_inh_stefinA
     IPR018073 Prot_inh_cystat_CS
     IPR000010 Prot_inh_cystat

    Graphical View of Domain Structure for InterPro Entry P04080

    ProtoNet protein and cluster: P04080

    2 Blocks protein domains:
    IPB000010 Cysteine protease inhibitor
    IPB001713 Stefin A signature


    UniProtKB/Swiss-Prot: CYTB_HUMAN, P04080
    Similarity: Belongs to the cystatin family


    CSTB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYTB_HUMAN, P04080
    Function: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins
    L, H and B

         Genatlas biochemistry entry for CSTB:
    cystatin B,cysteine proteinase inhibitor,type 2 family,widely expressed

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI6203523
    GO:0004866endopeptidase inhibitor activity TAS3053245
    GO:0004869cysteine-type endopeptidase inhibitor activity IDA6203523
    GO:0005515protein binding ----
         
    CSTB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CSTB:
     Decreased POU5F1-GFP protein e  Increased G1 DNA content 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cstb):
     behavior/neurological  cellular  growth/size  immune system  muscle 
     nervous system  no phenotypic analysis  vision/eye 

    CSTB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cstbtm1Rm for CSTB

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CSTB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CSTB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSTB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSTB 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSTB
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CSTB
    SwitchGear 3'UTR luciferase reporter plasmidCSTB 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CSTB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSTB

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CSTB (NM_000100)
    Sino Biological Human cDNA Clone for CSTB
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTB
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                         Customized lentivirus expression plasmids for stable overexpression of CSTB 

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    GenScript Custom overexpressing Cell Line Services for CSTB
    Search LifeMap BioReagents cell lines for CSTB
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CSTB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/39 Interacting proteins for CSTB (P040802, 3 ENSP000002915684) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPRY2O435972, 3, ENSP000003663064MINT-8271982 I2D: score=2 STRING: ENSP00000366306
    CTSDP073393, ENSP000002366714I2D: score=2 STRING: ENSP00000236671
    CTSBP078583, ENSP000003420704I2D: score=3 STRING: ENSP00000342070
    CST3P010343, ENSP000003661244I2D: score=1 STRING: ENSP00000366124
    CTSHP096683, ENSP000002201664I2D: score=3 STRING: ENSP00000220166
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008344adult locomotory behavior IEA--
    GO:0010466negative regulation of peptidase activity IDA6203523
    GO:0010951negative regulation of endopeptidase activity TAS3053245
    GO:0042981regulation of apoptotic process IEA--

    CSTB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CSTB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CSTB (CYTB)

    9 Novoseek inferred chemical compound relationships for CSTB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 77.3 58 11514663 (3), 9806543 (2), 10690531 (2), 12452481 (2) (see all 32)
    kininogen 63.1 7 2237263 (1), 2107324 (1), 1288417 (1), 7925405 (1) (see all 5)
    trifluoroethanol 55.5 5 10398367 (3), 9715906 (1)
    oligonucleotide 0 1 11555622 (1)
    proline 0 1 19265692 (1), 17217964 (1)
    hydrogen 0 3 1515073 (1), 18021806 (1)
    superoxide 0 1 17320137 (1)
    copper 0 6 16939620 (4)
    serine 0 2 1855589 (1), 19342095 (1)

    Search CenterWatch for drugs/clinical trials and news about CSTB / CYTB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CSTB gene: 
    NM_000100.3  

    Unigene Cluster for CSTB:

    Cystatin B (stefin B)
    Hs.695  [show with all ESTs]
    Unigene Representative Sequence: BM914652
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291568(uc002zdr.3) ENST00000480147

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSTB
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CSTB
    SwitchGear 3'UTR luciferase reporter plasmidCSTB 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CSTB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSTB
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    OriGene ORF clones in mouse, rat for CSTB
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    GenScript: all cDNA clones in your preferred vector: CSTB (NM_000100)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSTB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTB
    Sirion Biotech Customized lentivirus for stable overexpression of CSTB 
                         Customized lentivirus expression plasmids for stable overexpression of CSTB 
    Primer
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    OriGene qPCR primer pairs and template standards for CSTB
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSTB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSTB

    Additional mRNA sequence: 

    AK312133.1 BC003370.1 BC010532.1 BT007040.1 CR542148.1 L03558.1 

    9 DOTS entries:

    DT.450248  DT.92443884  DT.95142154  DT.97760082  DT.86842257  DT.319575  DT.100041826  DT.121139129 
    DT.65288005 

    24/454 AceView cDNA sequences (see all 454):

    BQ640621 AI858081 AI950634 BF341232 AI421401 C04040 NM_000100 AI805382 
    CA941946 BE612780 AA147185 AA552702 AI682104 W05426 BU677510 T28345 
    CD367568 CA946766 AW014465 BM846232 BU579672 BE880145 BQ109447 AA046893 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CSTB    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for CSTB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CSTB expression in normal human tissues (normalized intensities)      CSTB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAGCTGAC
    CSTB Expression
    About this image


    CSTB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             brain/midbrain   

    See CSTB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSTB

    SOURCE GeneReport for Unigene cluster: Hs.695
        SABiosciences Custom PCR Arrays for CSTB
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSTB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CSTB gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cstb1 , 5 cystatin B1, 5 77.21(n)1
    78.57(a)1
      10 (39.72 cM)5
    130141  NM_007793.31  NP_031819.11 
     784256705 
    chicken
    (Gallus gallus)
    Aves CSTB1 cystatin B (stefin B) 72.79(n)
    69.39(a)
      418267  NM_001198648.1  NP_001185577.1 
    lizard
    (Anolis carolinensis)
    Reptilia CSTB6
    --
    --
    59(a)
    50(a)
    1 ↔ 1
    possible ortholog
    GL343232.1(331659-331976)
    GL344018.1(128067-146402)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5737691 cystatin-B-like 57.19(n)
    55.79(a)
      573769  XM_003201307.1  XP_003201355.1 


    ENSEMBL Gene Tree for CSTB (if available)
    TreeFam Gene Tree for CSTB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CSTB gene
    CSTA2  
    1 SIMAP similar gene for CSTB using alignment to 2 protein entries:     CYTB_HUMAN (see all proteins):
    CSTA

    CSTB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CSTB
    PGOHUM00000237533


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/153 SNPs in CSTB are shown (see all 153)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0022064
    Epilepsy, progressive myoclonic 1 (EPM1)4--see VAR_0022062 G R mis40--------
    rs743154421,2
    Cpathogenic135691240(-) ACCTGC/TGAGTG 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs743154431,2
    Cpathogenic135693203(-) TGTGCC/GGGGCG 2 R G mis10--------
    rs9684361,2
    C,H--30564748(+) GGGGAG/ACCTGG 1 -- us2k13Minor allele frequency- A:0.00NA 6
    rs1466206551,2
    C--35690182(+) CCCCAC/TGATCT 1 -- ds50010--------
    rs596582571,2
    C,F--35690204(+) ACCCTG/TCAGCT 1 -- ds50014Minor allele frequency- T:0.09WA CSA NA 242
    rs1414187951,2
    --35690205(+) CCCTGC/TAGCTG 1 -- ds50010--------
    rs48193121,2
    C,F,H--35690225(+) CATACG/ACTGCC 1 -- ds5001 ese316Minor allele frequency- A:0.06NS EA NA WA 1886
    rs791999051,2
    F--35690276(+) GAACAC/TGTTCA 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs1896217021,2
    C--35690312(+) TTTCAC/TCCCCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CSTB (45192393 - 45196326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CSTB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509799CNV Insertion20534489
    nsv520305CNV Loss19592680
    nsv834108CNV Loss17160897
    nsv834107CNV Loss17160897
    nsv470904CNV Loss18288195
    nsv913882CNV Loss21882294
    esv33817CNV Loss17666407
    dgv4761n71CNV Loss21882294
    dgv4763n71CNV Loss21882294
    nsv913879CNV Gain21882294


    Human Gene Mutation Database (HGMD): CSTB
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601145   
    OMIM disorders: 254800  
    UniProtKB/Swiss-Prot: CYTB_HUMAN, P04080
  • Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An autosomal recessive disorder characterized by
    severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of
    age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in
    the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small,
    they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration
    and eventually dementia develop. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/26 diseases for CSTB (see all 26):    About MalaCards
    unverricht-lundborg syndrome    myoclonus epilepsy    progressive myoclonus epilepsy    lafora disease
    myoclonus    benign meningioma    idiopathic generalized epilepsy    squamous cell carcinoma of the head and neck
    laryngeal carcinoma    laryngeal squamous cell carcinoma    meningioma    laryngitis
    prostate adenocarcinoma    brain disease    squamous cell carcinoma    alzheimer's disease
    dementia    esophagitis    adenocarcinoma    glioblastoma

    1 disease from the University of Copenhagen DISEASES database for CSTB:
    Progressive myoclonus epilepsy

    CSTB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/19 Novoseek inferred disease relationships for CSTB gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progressive myoclonus epilepsies 95.2 27 10792446 (2), 12393805 (2), 14526183 (2), 10660338 (1) (see all 17)
    epilepsies myoclonic 71.4 7 11139332 (2), 14517952 (1), 9090386 (1), 9806543 (1) (see all 5)
    myoclonic seizure 66.9 3 11555622 (1), 12853462 (1), 14526183 (1)
    lafora disease 65.3 3 10514828 (2), 11579433 (1)
    fibrillation 44.3 2 16939620 (1)
    neurodegenerative diseases 39.6 6 12452481 (1), 17920138 (1), 14526183 (1), 17003839 (1)
    epilepsy 31.1 8 10514828 (1), 16930946 (1), 20078424 (1), 14526183 (1) (see all 5)
    lung tumor 21 1 9330706 (1)
    neurological disorders 10.8 6 9806543 (1), 11555622 (1), 15780491 (1)
    carcinoma 9.36 3 17418975 (1), 12539227 (1)

    GeneTests: CSTB
    GeneReviews: CSTB
    Genetic Association Database (GAD): CSTB
    Human Genome Epidemiology (HuGE) Navigator: CSTB (4 documents)

    Export disorders for CSTB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CSTB gene, integrated from 9 sources (see all 175):
    (articles sorted by number of sources associating them with CSTB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). (PubMed id 8596935)1, 2, 3, 9 Pennacchio L.A....Myers R.M. (1996)
    2. Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1). (PubMed id 11139332)1, 2, 9 Riccio M....Santi S. (2001)
    3. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (PubMed id 9012407)1, 2, 9 Lalioti M.D....Antonarakis S.E. (1997)
    4. The refined 2.4 A X-ray crystal structure of recombinant human stefin B in complex with the cysteine proteinase papain: a novel type of proteinase inhibitor interaction. (PubMed id 2347312)1, 2, 9 Stubbs M.T....Turk V. (1990)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. (PubMed id 16205844)1, 4 Haider M.Z....Al-Bloushi M. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    9. Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver. (PubMed id 3902020)1, 2 Ritonja A.... Barrett A.J. (1985)
    10. Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo. (PubMed id 17920138)1, 9 Cipollini E....Melli M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1476 HGNC: 2482 AceView: CSTB Ensembl:ENSG00000160213 euGenes: HUgn1476
    ECgene: CSTB H-InvDB: CSTB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CSTB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSTB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CSTB

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CSTB gene:
    Search GeneIP for patents involving CSTB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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