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

CSTB Gene

protein-coding   GIFtS: 63
GCID: GC21M045192

cystatin B (stefin B)


(Previous symbols: EPM1, STFB)
 Explore 33 diseases affiliated with
CSTB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CSTB    

Aliases
for CSTB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
Cystatin B (Stefin B)1 2     CPI-B2 3
STFB1 2 3 5     Cystatin B (Liver Thiol Proteinase Inhibitor)11
CST61 2 3     EPM1A2
EPM11 2 5     ULD2
PME1 2     Cystatin-B1
Liver Thiol Proteinase Inhibitor2 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


Summaries
for CSTB gene

(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:
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)

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)


Genomic Views
for CSTB 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 69), 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_018932.1  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 plasmid: CSTB 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


Proteins
for CSTB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04080

    • CSTB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000091.1  
    ENSEMBL proteins: 
     ENSP00000291568  

    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for CSTB (Cystatin B)
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    OriGene Protein Over-expression Lysate: CSTB
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    Novus Biologicals CSTB Proteins
    Novus Biologicals CSTB Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for CSTB
    Uscn Proteins for CSTB

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--


    CSTB for ontologies           About GeneDecksing



    CSTB Antibody Products: 
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    Assay Products for CSTB: 
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    Uscn ELISAs and CLIAs for CSTB

    Protein Domains /
    Families
    for CSTB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CSTB for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB000010 Cysteine protease inhibitor
    IPB001713 Stefin A signature


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


    Function
    for CSTB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: CSTB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CSTB (see all 7)
    OriGene shRNA RFP: CSTB
    OriGene siRNA: CSTB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSTB

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CSTB

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CSTB (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTB 

    Cell Line
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    Search LifeMap BioReagents cell lines for CSTB

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CSTB

    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


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

    Animal Models:
         Mouse knock-out Cstbtm1Rm for CSTB
         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


    Pathways & Interactions
    for CSTB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for CSTB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    9 Novoseek 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 

    Transcripts
    for CSTB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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    SwitchGear 3'UTR luciferase reporter plasmid: CSTB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CSTB (see all 7)
    OriGene shRNA RFP: CSTB
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CSTB (NM_000100)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTB 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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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 cDNA 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):

    AI337925 BQ716092 BM769485 AW375767 BC003370 N56617 CA946899 CA433259 
    BU677510 BM558565 BX098141 BU857243 NM_000100 CA947038 W05426 AA335011 
    AI313171 BM760392 CD367945 AA147185 AI857982 CA947191 BU731877 CB160009 

    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

    Expression
    for CSTB gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGAGCTGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
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    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CSTB

    Orthologs
    for CSTB gene

    (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 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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)
    		 1 ↔ 1
    		 GL343232.1(331659-331976)
    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
    for CSTB gene

    (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


    Genomic Variants
    for CSTB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/117 NCBI SNPs in CSTB are shown (see all 117)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154421,2
    		Cpathogenic30562576(-) ACCTGC/TGAGTG 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs743154431,2
    		Cpathogenic30564539(-) TGTGCC/GGGGCG 2 R G mis10--------
    rs596582571,2
    		C,F,--30561540(+) ACCCTG/TCAGCT 1 -- ds50014Minor allele frequency- T:0.09WA CSA NA 242
    rs48193121,2
    		C,F,H,--30561561(+) CATACG/ACTGCC 1 -- ds5001 ese316Minor allele frequency- A:0.06NS EA NA WA 1886
    rs791999051,2
    		F,--30561612(+) GAACAC/TGTTCA 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs622292201,2
    		C,--30561714(+) CACAGT/GTGGGA 1 -- ds50013Minor allele frequency- G:0.10NA EA 242
    rs1137011941,2
    		--30561826(+) CCCACG/ATGGCT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs286916451,2
    		C,--30562156(+) CTCCAT/CGCCCC 1 -- ut314Minor allele frequency- C:0.06CSA WA NA EA 360
    rs94461,2
    		C,--30562388(-) GCTTCA/G/TTCTCN 2 -- ut314MN NA CSA 189
    rs63851,2
    		C,F,H,--30562407(-) ACTTGT/CGATCC 1 -- ut31 ese315Minor allele frequency- C:0.03NS EA MN NA WA 1852

    HapMap Linkage Disequilibrium report for CSTB (45192393 - 45196326 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CSTB
         3 CNVs: 30145 5162 7327
    Human Gene Mutation Database (HGMD): CSTB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSTB
    DNA2.0 Custom Variant and Variant Library Synthesis for CSTB

    Disorders / Diseases
    for CSTB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CSTB for disorders           About GeneDecksing

    OMIM gene information: 601145   
    OMIM disorders: 254800  
    UniProtKB/Swiss-Prot: CYTB_HUMAN, P04080
  • Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]. EPM1 is 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

    20/33 diseases for CSTB (see all 33):    About MalaCards
    progressive myoclonus epilepsy    myoclonus epilepsy    idiopathic generalized epilepsy    generalized epilepsy
    myoclonus    lafora disease    squamous cell carcinoma    laryngeal squamous cell carcinoma
    squamous cell carcinoma of the head and neck    benign meningioma    neurodegenerative disease    laryngitis
    convulsions    alzheimer's disease    seizures    carcinoma
    laryngeal carcinoma    meningioma    brain disease    esophageal carcinoma

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

    10/19 Novoseek 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
    Unverricht-Lundborg Disease

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

    Export disorders for CSTB gene to outside databases

    Publications
    for CSTB gene

    (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 171):
    (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. 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)
    6. 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)
    7. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    8. 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)
    9. Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo. (PubMed id 17920138)1, 9 Cipollini E....Melli M. (2008)
    10. Stefin B interacts with histones and cathepsin L in t he nucleus. (PubMed id 20075068)1, 9 Ceru S....Kopitar-Jerala N. (2010)

    External Searches for CSTB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing CSTB gene

    (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

    Other Databases showing CSTB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CSTB gene

    (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

    Intellectual Property
    for CSTB gene

    (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:
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