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

CST3 Gene

protein-coding   GIFtS: 66
GCID: GC20M023608

cystatin C

(Previous name: cystatin C (amyloid angiopathy and cerebral hemorrhage)...)
 Explore 151 diseases affiliated with
CST3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CST3    

Aliases
for CST3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cystatin C1 2     Cystatin-C1
Neuroendocrine Basic Polypeptide2 3     Gamma-Trace1
ARMD112 5     Post-Gamma-Globulin1
Cystatin C (Amyloid Angiopathy And Cerebral Hemorrhage)1     Cystatin-33
BA218C14.4 (Cystatin C)2     Gamma-Trace1
Cystatin 32     Post-Gamma-Globulin1
Cystatin-33     

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


Summaries
for CST3 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 CST3:
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. (provided by RefSeq, Jul
2008)

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)


Genomic Views
for CST3 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)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences 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 plasmid: CST3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CST3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CST3 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: CYTC_HUMAN, P01034 (See protein sequence)
Recommended Name: Cystatin-C precursor  
Size: 146 amino acids; 15799 Da
Subunit: Homodimer
Subcellular location: Secreted
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
6/9 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01034

    • CST3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000090.1  
    ENSEMBL proteins: 
     ENSP00000381448   ENSP00000366124   ENSP00000381446  
    Reactome Protein details: P01034
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CST3 (Cystatin C)
    Enzo Life Sciences proteins for CST3
    OriGene Purified Protein: CST3
    OriGene Protein Over-expression Lysate: CST3
    OriGene Custom Protein Services for CST3 
    GenScript Custom Purified and Recombinant Proteins Services for CST3
    Novus Biologicals CST3 Proteins
    Novus Biologicals CST3 Lysates
    Sino Biological Recombinant Protein for CST3
    ProSpec Recombinant Protein for CST3
    Uscn Proteins for CST3

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA18613859
    GO:0005737cytoplasm ----
    GO:0005764lysosome IEA--


    CST3 for ontologies           About GeneDecksing



    CST3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CST3
    R&D Systems Antibodies for CST3 (Cystatin C)
    OriGene Antibodies (see all 9): CST3
    OriGene Custom Antibody Services for CST3 
    GenScript Custom Superior Antibodies Services for CST3
    Novus Biologicals CST3 Antibodies
    Abcam antibodies for CST3 
    Uscn Antibodies for CST3
    ThermoFisher Antibody for CST3

    Assay Products for CST3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems ELISAs for CST3 (Cystatin C)         (see all)
    GenScript Custom Assay Services for CST3
    Enzo Life Sciences assays for CST3
    Uscn ELISAs and CLIAs for CST3

    Protein Domains /
    Families
    for CST3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CST3 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB000010 Cysteine protease inhibitor
    IPB003243 Proteinase inhibitor I25A and I25B


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


    Function
    for CST3 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CST3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CST3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CST3
    SwitchGear 3'UTR luciferase reporter plasmid: CST3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CST3 (see all 7)
    OriGene shRNA RFP: CST3
    OriGene siRNA: CST3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CST3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CST3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CST3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CST3
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CST3 (NM_000099)
    Sino Biological Human cDNA Clone for CST3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CST3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CST3 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CST3
    Search LifeMap BioReagents cell lines for CST3

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

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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


    CST3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cst3tm1Karl for CST3
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cst3):
     cardiovascular system  homeostasis/metabolism  muscle  nervous system  tumorigenesis 

    CST3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CST3 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amyloid precursor proteins form ordered fibrils
    		Amyloid precursor proteins form ordered fibrils1.00
    		Amyloids0.43
    2Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99
    3Disease
    		Disease1.00
    4Gastric acid secretion
    		Salivary secretion0.35
    5Cell adhesion_ECM remodeling
    		Metalloproteases in connective tissue degradation0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CST3
        Metalloproteases in connective tissue degradation


    2 BioSystems Pathways for CST3 
        Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    3        Reactome Pathways for CST3
        Amyloids
    Amyloid precursor proteins form ordered fibrils
    Disease


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


    CST3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CST3

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

    5/33 Interacting proteins for CST3 (P010342, 3 ENSP000003661244) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2857882 I2D: score=3 STRING: ENSP00000244769
    CTSDP073393, ENSP000002366714I2D: score=2 STRING: ENSP00000236671
    APPP050673, ENSP000002849814I2D: score=1 STRING: ENSP00000284981
    CSTBP040803, ENSP000002915684I2D: score=1 STRING: ENSP00000291568
    CTSBP078583, ENSP000003420704I2D: score=3 STRING: ENSP00000342070
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development IEA--
    GO:0001666response to hypoxia IEA--
    GO:0001775cell activation IEA--
    GO:0006915apoptotic process IEA--
    GO:0006952defense response IDA6203523


    CST3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CST3 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

    CST3 for compounds           About GeneDecksing

    EMD Millipore small molecules for CST3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CST3
    10/73 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CST3 / CYTC 

    Transcripts
    for CST3 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 CST3 gene: 
    NM_000099.2  

    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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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CST3
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    SwitchGear 3'UTR luciferase reporter plasmid: CST3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CST3 (see all 7)
    OriGene shRNA RFP: CST3
    OriGene siRNA: CST3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CST3
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CST3
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    GenScript: all cDNA clones in your preferred vector: CST3 (NM_000099)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CST3 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CST3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CST3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CST3

    Additional cDNA 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 

    24/1038 AceView cDNA sequences (see all 1038):

    CD370336 C05294 BQ029881 BU782988 BM852193 BI835788 BM707113 CR601605 
    CA418793 BM672796 CR622151 CA425363 BF594139 CA391241 CA432144 BM840972 
    AA363434 BU617618 F22288 BF740086 CA418561 BF432629 H56225 BM667954 

    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

    Expression
    for CST3 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

    CST3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCCTGCACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See CST3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CST3

    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

        SABiosciences Expression via Pathway-Focused PCR Array including CST3: 
              Nephrotoxicity in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CST3
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CST3
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CST3

    Orthologs
    for CST3 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 CST3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CST31 cystatin C 56.12(n)
    43.88(a)    		   396497  NM_205500.2  NP_990831.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 38(a)
    		 1 → many
    		 4(82204275-82217421)
    zebrafish
    (Danio rerio)    		 Actinopterygii cst36
    zgc:1630306
    		 zgc:163030
    		 32(a)
    30(a)
    		 many ↔ many
    many ↔ many
    		 13(33900031-33908388)
    13(33894411-33896169)


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

    Paralogs
    for CST3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CST3 gene
    CST22  CSTL12  CST72  CST12  CST62  CST42  CST82  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

    CST3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CST3
    PGOHUM00000247470


    Genomic Variants
    for CST3 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

    10/173 NCBI SNPs in CST3 are shown (see all 173)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs10640391,2
    		C,pathogenic23618427(-) CCGCGA/GCCGGC 2 T A mis1 ese33Minor allele frequency- G:0.31MN NA 306
    rs1384153811,2
    		--23613798(+) TTCCAC/TGTAGG 1 -- ds50010--------
    rs1844770021,2
    		--23613799(+) TCCACA/GTAGGG 1 -- ds50010--------
    rs1430180091,2
    		--23613848(+) TTTAGC/TGTCTA 1 -- ds50010--------
    rs731023151,2
    		C,F,--23613928(+) CCTGGC/TGAGCT 1 -- ds50011Minor allele frequency- T:0.07NA 120
    rs1898274841,2
    		--23613936(+) GCTCCA/GCCGAG 1 -- ds50010--------
    rs739021101,2
    		C,--23613939(+) CCACCG/AAGGCC 1 -- ds50012Minor allele frequency- A:0.16WA 120
    rs1810982691,2
    		--23613994(+) ACCAGC/TAGCTC 1 -- ds50010--------
    rs24245781,2
    		C,F,A,H,--23614087(+) CTCAAC/TGCCTT 1 -- ds500114Minor allele frequency- T:0.05NS EA NA WA CSA 783
    rs1507602791,2
    		--23614124(+) TGCTC-/TGAGACT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CST3 (23608534 - 23619110 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CST3: --
    Human Gene Mutation Database (HGMD): CST3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CST3
    DNA2.0 Custom Variant and Variant Library Synthesis for CST3

    Disorders / Diseases
    for CST3 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
    CST3 for disorders           About GeneDecksing

    OMIM gene information: 604312   
    OMIM disorders: 105150  611953  
    UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034
  • Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:105150]; also known as hereditary cerebral
    • hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type.
    AMYL6 is 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
  • Genetic variations in CST3 are associated with age-related macular degeneration type 11 (ARMD11) [MIM:611953].
    • ARMD is 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

    20/151 diseases for CST3 (see all 151):    About MalaCards
    macular degeneration, age-related, 11    cerebral hemorrhage    cerebral amyloid angiopathy    twin-to-twin transfusion syndrome
    vascular disease    twin twin transfusion syndrome    cerebritis    early-onset familial alzheimer disease
    end stage renal failure    retinol binding protein    age related macular degeneration    inclusion body myositis
    hemolytic-uremic syndrome    macular degeneration    amyotrophic lateral sclerosis    aortic aneurysm
    diastolic heart failure    systolic heart failure    hereditary cerebral hemorrhage with amyloidosis    pre-eclampsia

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

    10/94 Novoseek 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

    Publications
    for CST3 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 CST3 gene, integrated from 9 sources (see all 1019):
    (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. (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. (2005)
    3. 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. (2006)
    4. Cystatin C and apoe polymorphisms in Italian Alzheimer's disease. (PubMed id 16188386)1, 4, 9 Nacmias B....Sorbi S. (2006)
    5. Genotype and plasma concentration of cystatin C in patients with coronary heart disease and risk for secondary cardiovascular events. (PubMed id 15860739)1, 4, 9 Loew M....Rothenbacher D. (2005)
    6. No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population. (PubMed id 16131730)1, 4, 9 Monastero R....Camarda R. (2005)
    7. Cystatin C as a risk factor for Alzheimer disease. (PubMed id 15728313)1, 4, 9 Cathcart H.M....Poduslo S.E. (2005)
    8. The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia. (PubMed id 14672279)1, 4, 9 Lin C....Kuo Y.M. (2003)
    9. Human cystatin C, an amyloidogenic protein, dimerizes through three- dimensional domain swapping. (PubMed id 11276250)1, 2, 9 Janowski R.... Jaskolski M. (2001)
    10. Alzheimer's disease and the cystatin C gene polymorphism: an association study. (PubMed id 11711204)1, 4, 9 Beyer K....Ariza A. (2001)

    External Searches for CST3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CST3 gene

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

    Other Databases showing CST3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CST3 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 CST3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CST3 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CST3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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