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CST3 Gene

protein-coding   GIFtS: 68
GCID: GC20M023608

Cystatin C

(Previous name: cystatin C (amyloid angiopathy and cerebral hemorrhage))
  See CST3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cystatin C1 2     cystatin-C2
Neuroendocrine Basic Polypeptide2 3     gamma-trace2
ARMD112 5     post-gamma-globulin2
Cystatin C (Amyloid Angiopathy And Cerebral Hemorrhage)1     Cystatin-33
BA218C14.4 (Cystatin C)2     Gamma-trace3
Cystatin 32     Post-gamma-globulin3
cystatin-32     

External Ids:    HGNC: 24751   Entrez Gene: 14712   Ensembl: ENSG000001014397   OMIM: 6043125   UniProtKB: P010343   

Export aliases for CST3 gene to outside databases

Previous GC identifers: GC20M023602 GC20M023609 GC20M023562


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CST3 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 the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found
in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin
locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located
in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found
in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in
this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle
cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in
vascular disease. Alternative splicing results in multiple transcript variants encoding a single protein.
(provided by RefSeq, Dec 2013)

GeneCards Summary for CST3 Gene:
CST3 (cystatin C) is a protein-coding gene. Diseases associated with CST3 include cerebral amyloid angiopathy, and macular degeneration, age-related, 11. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is CST4.

UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034
Function: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological
role as a local regulator of this enzyme activity

Gene Wiki entry for CST3 (Cystatin C) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the CST3 gene promoter:
         GR   AP-1   AML1a   GR-beta   MyoD   Tal-1beta   C/EBPalpha   E47   GR-alpha   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCST3 promoter sequence
   Search Chromatin IP Primers for CST3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CST3


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

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.2

CST3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CST3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M023608:  view genomic region     (about GC identifiers)

Start:
23,608,534 bp from pter      End:
23,619,110 bp from pter
Size:
10,577 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034 (See protein sequence)
Recommended Name: Cystatin-C precursor  
Size: 146 amino acids; 15799 Da
Subunit: Homodimer
Mass spectrometry: Mass=13334.5829; Mass_error=0.0140; Method=Electrospray; Range=27-146; Source=PubMed:20189825;
Miscellaneous: Potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease
Selected PDB 3D structures from and Proteopedia for CST3 (see all 9):
1G96 (3D)        1R4C (3D)        1TIJ (3D)        3GAX (3D)        3NX0 (3D)        3PS8 (3D)    
Secondary accessions: B2R5J9 D3DW42 Q6FGW9

Explore the universe of human proteins at neXtProt for CST3: NX_P01034

Explore proteomics data for CST3 at MOPED

Post-translational modifications: 

  • The Thr-25 variant is O-glycosylated with a core 1 or possibly core 8 glycan. The signal peptide of the
    O-glycosylated Thr-25 variant is cleaved between Ala-20 and Val-211
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CST3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000090.1  NP_001275543.1  

    ENSEMBL proteins: 
     ENSP00000381448   ENSP00000366124   ENSP00000381446  
    Reactome Protein details: P01034

    CST3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CST3

     
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    CST3 Antibody Products:

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    R&D Systems Antibodies for CST3 (Cystatin C)
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    LSBio Antibodies in human, mouse, rat for CST3

    CST3 Assay Products:

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    Enzo Life Sciences assays for CST3
    Cloud-Clone Corp. ELISAs for CST3
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    Search eBioscience for ELISAs for CST3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR018073 Prot_inh_cystat_CS
     IPR000010 Prot_inh_cystat
     IPR027214 Cystatin

    Graphical View of Domain Structure for InterPro Entry P01034

    ProtoNet protein and cluster: P01034

    2 Blocks protein domains:
    IPB000010 Cysteine protease inhibitor
    IPB003243 Proteinase inhibitor I25A and I25B


    UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034
    Similarity: Belongs to the cystatin family


    Find genes that share domains with CST3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYTC_HUMAN, P01034
    Function: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological
    role as a local regulator of this enzyme activity

         Genatlas biochemistry entry for CST3:
    cystatin C,cysteine proteinase inhibitor,found at high levels in saliva,tears,seminal plasma,type 2
    family,expressed in all cellular types,inhibitor of cathepsin B

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IPI18026102
    GO:0002020protease binding IPI6203523
    GO:0004866endopeptidase inhibitor activity IDA15127951
    GO:0004869cysteine-type endopeptidase inhibitor activity IDA6203523
    GO:0005515protein binding IPI15127951
         
    Find genes that share ontologies with CST3           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cst3):
     cardiovascular system  homeostasis/metabolism  muscle  nervous system  tumorigenesis 

    Find genes that share phenotypes with CST3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cst3tm1Karl for CST3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CST3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CST3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CST3

    miRNA
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    hsa-mir-26b-5p (MIRT030271), hsa-mir-335-5p (MIRT019152)

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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CST3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CST3 (NM_000099)
    Sino Biological Human cDNA Clone for CST3
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CST3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CST3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CYTC_HUMAN, P01034: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum2
    endosome2
    golgi apparatus2
    lysosome2
    nucleus2
    vacuole2
    cytoskeleton1
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA18613859
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CST3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CST3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Amyloids0.68
    2Salivary secretion
    Salivary secretion0.34
    3Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    4Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    5Disease
    Disease


    Find genes that share SuperPaths with CST3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CST3
        A-beta Plaque Formation & APP Metabolism


    1 BioSystems Pathway for CST3
        Integrated Pancreatic Cancer Pathway


    1 Reactome Pathway for CST3
        Amyloids


    1 Kegg Pathway  (Kegg details for CST3):
        Salivary secretion

        Pathway & Disease-focused RT2 Profiler PCR Array including CST3: 
              Nephrotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CST3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CST3 (P010342, 3 ENSP000003661244) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2857882 I2D: score=3 STRING: ENSP00000244769
    C4AP0C0L43, ENSP000003966884I2D: score=2 STRING: ENSP00000396688
    ENSG00000206340P0C0L43, ENSP000003728154I2D: score=2 STRING: ENSP00000372815
    ENSG00000227746P0C0L43I2D: score=2 
    CTSDP073393, ENSP000002366714I2D: score=2 STRING: ENSP00000236671
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006952defense response IDA6203523
    GO:0010466negative regulation of peptidase activity IDA6203523
    GO:0010703negative regulation of histolysis IC7890620
    GO:0010711negative regulation of collagen catabolic process IEP10545518
    GO:0010716negative regulation of extracellular matrix disassembly IEP10545518

    Find genes that share ontologies with CST3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CST3 (CYTC)

    Selected Novoseek inferred chemical compound relationships for CST3 gene (see all 73)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 88.3 1161 10462282 (8), 19929276 (7), 19487236 (7), 19731180 (6) (see all 99)
    cysteine 80.3 211 1731767 (4), 10773584 (4), 16325785 (3), 8471031 (3) (see all 99)
    iohexol 74 23 12401747 (4), 12845219 (2), 15025426 (2), 12004930 (1) (see all 14)
    inulin 68.4 19 11849470 (2), 16582575 (2), 10794756 (1), 17366002 (1) (see all 14)
    actinidin 67.8 7 1731767 (4), 8166644 (1), 2049069 (1), 7887904 (1)
    51-cr-edta 65.6 7 15719405 (3), 10452279 (1), 17366002 (1), 18793543 (1) (see all 5)
    kininogen 61.8 15 2013314 (2), 2315647 (1), 2338365 (1), 7872798 (1) (see all 11)
    hcca 54.9 1 2122580 (1)
    homocysteine 49 28 12162587 (3), 19597297 (3), 10479668 (2), 18057891 (2) (see all 20)
    diatrizoate 41.5 6 15788478 (3), 17606957 (2), 16408133 (1)



    Find genes that share compounds with CST3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CST3 gene (2 alternative transcripts): 
    NM_000099.3  NM_001288614.1  

    Unigene Cluster for CST3:

    Cystatin C
    Hs.304682  [show with all ESTs]
    Unigene Representative Sequence: BX647523
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398411(uc002wtm.3) ENST00000376925(uc002wtn.1) ENST00000398409

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat CST3

    Additional mRNA sequence: 

    AB587083.1 AK312213.1 BC013083.1 BC110305.1 BT006839.1 BX647523.1 CR541988.1 CR542018.1 
    X05607.1 

    21 DOTS entries:

    DT.100877072  DT.455557  DT.91763237  DT.95093929  DT.91723478  DT.100877079  DT.95093846  DT.100045036 
    DT.95093848  DT.95297684  DT.97864557  DT.102830035  DT.91726513  DT.91763249  DT.92042672  DT.95093928 
    DT.95242542  DT.100877078  DT.86996545  DT.91763245  DT.97788404 

    Selected AceView cDNA sequences (see all 1038):

    BU782988 CA425150 AI272311 CR622151 CA425363 BU947691 CA428752 F24100 
    BQ447913 AA317433 BF196608 CA430366 CD677582 C05294 CR612887 BE206455 
    BQ574579 AI151029 CA391241 CR601605 AW328286 CA446876 BI823017 CR590218 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CST3    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:        -     -     -                       -                     
    SP2:                                            -                     
    SP3:                                            -                     
    SP4:                                                                  


    ECgene alternative splicing isoforms for CST3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CST3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTGCACC
    CST3 Expression
    About this image


    CST3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebellum
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CST3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CST3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.304682

    UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034
    Tissue specificity: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level).
    Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the
    epididymis, vas deferens, brain, thymus, and ovary and the lowest in the submandibular gland

        Pathway & Disease-focused RT2 Profiler PCR Array including CST3: 
              Nephrotoxicity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CST3

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CST3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cst31 , 5 cystatin C1, 5 71.69(n)1
    69.05(a)1
      2 (73.60 cM)5
    130101  NM_009976.31  NP_034106.21 
     1488717225 
    chicken
    (Gallus gallus)
    Aves CST31 cystatin C 59.46(n)
    45.95(a)
      396497  NM_205500.2  NP_990831.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    42(a)
    1 → many
    4(82204275-82217421)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004857741 cystatin-C-like 48.33(n)
    43.33(a)
      100485774  XM_002934869.2  XP_002934915.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cst36
    cystatin C (amyloid angiopathy and cerebral hemorr...
    33(a)
    many ↔ many
    13(33900031-33908388) ENSDARG00000007795


    ENSEMBL Gene Tree for CST3 (if available)
    TreeFam Gene Tree for CST3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CST3 gene
    CST42  CST22  CSTL12  CST82  CST12  CST52  CST112  
    10 SIMAP similar genes for CST3 using alignment to 1 protein entry:     CYTC_HUMAN:
    CST2    CST1    CST5    CST4    CSTL1    CST8
    CST6    CST9LP1    CST11    CST7

    Find genes that share paralogs with CST3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CST3
    PGOHUM00000247470


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CST3 (see all 207)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10640391,2,,4
    Cpathogenic123568083(-) CCGCGA/GCCGGC 2 T A mis1 ese33Minor allele frequency- G:0.31MN NA 306
    rs1384153811,2
    C--23563454(+) TTCCAC/TGTAGG 1 -- ds50010--------
    rs1844770021,2
    --23563455(+) TCCACA/GTAGGG 1 -- ds50010--------
    rs1430180091,2
    C--23563504(+) TTTAGC/TGTCTA 1 -- ds50010--------
    rs731023151,2
    C,F--23563584(+) CCTGGC/TGAGCT 1 -- ds50011Minor allele frequency- T:0.07NA 120
    rs1898274841,2
    --23563592(+) GCTCCA/GCCGAG 1 -- ds50010--------
    rs739021101,2
    C,F--23563595(+) CCACCG/AAGGCC 1 -- ds50012Minor allele frequency- A:0.16WA 120
    rs1810982691,2
    --23563650(+) ACCAGC/TAGCTC 1 -- ds50010--------
    rs24245781,2
    C,F,A,H--23563743(+) CTCAAC/TGCCTT 1 -- ds500114Minor allele frequency- T:0.05NS EA NA WA CSA 783
    rs1507602791,2
    C--23563780(+) TGCTC-/TGAGACT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CST3 (23608534 - 23619110 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CST3: --
    Human Gene Mutation Database (HGMD): CST3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CST3
    DNA2.0 Custom Variant and Variant Library Synthesis for CST3

    (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.)
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    OMIM gene information: 604312   
    OMIM disorders: 105150  611953  
    UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034
  • Amyloidosis 6 (AMYL6) [MIM:105150]: A hereditary generalized amyloidosis due to cystatin C amyloid
    deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and
    veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal
    vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage
    and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Macular degeneration, age-related, 11 (ARMD11) [MIM:611953]: A form of age-related macular degeneration,
    a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In
    most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and
    lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for CST3 (see all 22):    
    About MalaCards
    cerebral amyloid angiopathy    macular degeneration, age-related, 11    scrapie    benign meningioma
    vascular disease    cerebral aneurysms    al amyloidosis    hereditary cerebral hemorrhage with amyloidosis
    gastroschisis    poems syndrome    gingivitis    retinoschisis
    oral submucous fibrosis    diastolic heart failure    hepatorenal syndrome    diabetes, type 2
    amyloidosis    meningioma    alzheimer's disease    coronary artery disease

    7 diseases from the University of Copenhagen DISEASES database for CST3:
    Kidney disease     Amyloidosis     Diabetes mellitus     Hypertension
    Heart disease     Alzheimer's disease     Atherosclerosis

    Find genes that share disorders with CST3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CST3 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal disease 82.5 162 16908914 (8), 16408133 (4), 19374014 (3), 20008829 (3) (see all 99)
    cerebral amyloid angiopathy 80 33 8711812 (4), 1853405 (4), 11760381 (2), 2364630 (2) (see all 17)
    kidney dysfunction 74.2 15 16609294 (3), 15603510 (1), 18226769 (1), 16870638 (1) (see all 12)
    sporadic cerebral amyloid angiopathy 70.5 5 11094619 (1), 11760381 (1), 9493177 (1)
    microalbuminuria 63.7 33 17205961 (3), 20426756 (2), 16232367 (2), 17720520 (2) (see all 22)
    intracerebral hemorrhage 63.1 28 2364630 (4), 8085435 (3), 7482672 (3), 9063500 (2) (see all 16)
    cerebral amyloid angiopathy familial 61.2 1 15152461 (1)
    amyloid deposition 60.5 8 1517744 (1), 8685920 (1), 9860845 (1), 18026100 (1) (see all 6)
    renal failure 58.5 33 11869179 (2), 16351602 (2), 11822803 (2), 18983055 (1) (see all 30)
    amyloidosis 58 19 8085435 (2), 9063500 (1), 15904486 (1), 2201197 (1) (see all 17)

    Genetic Association Database (GAD): CST3
    Human Genome Epidemiology (HuGE) Navigator: CST3 (35 documents)

    Export disorders for CST3 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)
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    PubMed articles for CST3 gene, integrated from 10 sources (see all 1076):
    (articles sorted by number of sources associating them with CST3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CST3 genotype associated with exudative age related macular degeneration. (PubMed id 11815350)1, 2, 4 Zurdel J.... Richard G. (Br. J. Ophthalmol. 2002)
    2. Cystatin C levels are decreased in acute myocardial infarction: effect of cystatin C G73A gene polymorphism on plasma levels. (PubMed id 15882666)1, 4, 9 Noto D....Averna M.R. (Int. J. Cardiol. 2005)
    3. Genotype and plasma concentration of cystatin C in patients with late-onset Alzheimer disease. (PubMed id 17310123)1, 4, 9 Chuo L.J....Kuo Y.M. (Dement Geriatr Cogn Disord 2007)
    4. Flanking markers of cystatin c (CST3) gene do not show association with Alzheimer's disease. (PubMed id 19293566)1, 4, 9 Helisalmi S....Soininen H. (Dement Geriatr Cogn Disord 2009)
    5. Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: a multicentric study. (PubMed id 16213753)1, 4, 9 Babiloni C....Rossini P.M. (Neuroimage 2006)
    6. The CST3 BB genotype and low cystatin C cerebrospinal fluid levels are associated with dementia in Lewy body disease. (PubMed id 20157249)1, 4, 9 Maetzler W....Melms A. (J. Alzheimers Dis. 2010)
    7. Association of blood pressure and genetic background with white matter lesions in patients with mild cognitive impairment. (PubMed id 18511756)1, 4, 9 Galluzzi S....Frisoni G.B. (J. Gerontol. A Biol. Sci. Med. Sci. 2008)
    8. Lack of an association between Alzheimer's disease and the cystatin C (CST3) gene G73A polymorphism in Mainland Chinese. (PubMed id 18408364)1, 4, 9 Wang B....Ma X. (Dement Geriatr Cogn Disord 2008)
    9. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. (PubMed id 17192785)1, 4, 9 Bertram L....Tanzi R.E. (Nat. Genet. 2007)
    10. Genetic analysis of the cystatin C gene in familial and sporadic ALS patients. (PubMed id 16443201)1, 4, 9 Watanabe M....Okamoto K. (Brain Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1471 HGNC: 2475 AceView: CST3 Ensembl:ENSG00000101439 euGenes: HUgn1471
    ECgene: CST3 Kegg: 1471 H-InvDB: CST3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CST3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CST3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CST3 gene:
    Search GeneIP for patents involving CST3

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



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