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Aliases & Descriptions for CST3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ARMD11 2, 5 | | Cystatin-3 3 | | Gamma-trace 3 | | MGC117328 2 | | OTTHUMP00000030440 2 | | OTTHUMP00000164181 2 | | OTTHUMP00000164182 2 | | Post-gamma-globulin 3 | | gamma-trace 2 | | post-gamma-globulin 2 |
| | | Descriptions |
|---|
| Neuroendocrine basic polypeptide 2, 3 | | bA218C14.4 (cystatin C) 2 | | cystatin 3 2 | | cystatin C 2 | | cystatin C (amyloid angiopathy and cerebral hemorrhage) 1, 2 |
|
| | Search outside databases for aliases for CST3 genePrevious GC identifers: GC20M023602 GC20M023609 |
Summaries for CST3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034Function: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activityGene Wiki entry for CST3 (Cystatin_C) |
Genomic Location for CST3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the CST3 gene 
Entrez Gene cytogenetic band: 20p11.21 Ensembl cytogenetic band: 20p11.21 HGNC cytogenetic band: 20p11.2CST3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M023562:
(about GC identifiers)
Start:
|
23,556,534 bp from pter |
End:
|
23,567,110 bp from pter |
Size:
|
10,577 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000020.9 NT_011387.8
| Proteins for CST3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
Miscellaneous: Potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease
PDB structures from and Proteopedia :1G96 (3D)
 1R4C (3D)
 1TIJ (3D)
 
Secondary accessions: B2R5J9 Q6FGW9REFSEQ proteins: NP_000090.1
ENSEMBL proteins: ENSP00000381446 ENSP00000366124 ENSP00000381448
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: CST3 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for CST3: Assays for CST3: | Protein
Domains/ Families for CST3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P01034Similarity: Belongs to the cystatin family | Gene Function for CST3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000099
Applied Biosystems Silencer® siRNAs for CST3
Sigma-Aldrich siRNA and siRNA Panels for CST3  Sigma-Aldrich shRNA for CST3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000099                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000099                                  untagged cDNA clone in CMV expression vector: NM_000099 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000099
UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034Function: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activityGenatlas 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 B5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Cst3):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for CST3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for CST3 
5/47 Interacting proteins for CST3 (ENSP000003661243 P010342) via UniProtKB, MINT, and/or STRING (see all 47
)About this table
5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9
): About this table
|
Drugs & Compounds for CST3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for CST3 10/37 Novoseek chemical compound relationships for CST3 gene (see all 37
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| actinidin |
69.85 |
7 |
1731767 (4), 8166644 (1), 2049069 (1), 7887904 (1) |
| inulin |
68.49 |
16 |
11849470 (2), 16582575 (2), 10794756 (1), 17366002 (1) (see all 13) |
| 51-cr-edta |
63.88 |
7 |
15719405 (3), 10452279 (1), 17366002 (1), 18793543 (1) (see all 5) |
| hcca |
58.55 |
1 |
2122580 (1) |
| homocysteine |
45.54 |
20 |
12162587 (3), 10479668 (2), 18057891 (2), 11427458 (1) (see all 15) |
| urea |
37.36 |
16 |
16337174 (3), 11772976 (2), 16025834 (1), 11961366 (1) (see all 12) |
| polysulfone |
32.01 |
4 |
15750984 (1), 15814541 (1), 17050637 (1) |
| gold |
31.26 |
8 |
17210589 (1), 15961546 (1), 16277744 (1), 16337174 (1) (see all 7) |
| uric acid |
21.99 |
13 |
17852800 (2), 11763416 (2), 16444458 (1), 17313784 (1) (see all 10) |
| latex |
21.71 |
6 |
18454664 (1), 18780660 (1), 8586116 (1), 8587256 (1) (see all 5) |
About this table
|
Transcripts for CST3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000099
Sigma-Aldrich siRNA and siRNA Panels for CST3  Sigma-Aldrich shRNA for CST3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000099 REFSEQ mRNAs for CST3 gene: NM_000099.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000099               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000099                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000099                                  untagged cDNA clone in CMV expression vector: NM_000099  Additional cDNA sequence: AK312213.1 BC013083.1 BC110305.1 BT006839.1 BX647523.1 CR541988.1 CR542018.1 CR590218.1 CR601605.1 CR606174.1 CR612887.1 CR622151.1 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
):BM686702 CR601605 BQ029881 F36915 H22416 BM768342 AI304612 AW880787 AW069713 BF195379 BM973156 CA418793 AA320404 BQ637911 BQ574579 CA418561 BM707113 BM852193 T29906 AW474084 BU947691 AL698469 BM708828 BI823017
highest scoring ESTs for CST3:AA086142 AA284648 AA291655 AA315198 AA325184 AA335397 AA336083 AA363573 AA364028 AA365044 Unigene Cluster for CST3: Cystatin C Hs.304682 [show with all ESTs]Unigene Representative Sequence: BX647523
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CST3
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | |
| SP1: | |   | - |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for CST3
3 Ensembl transcripts including schematic representations: ENST00000398409
ENST00000376925
ENST00000398411
|
Expression for CST3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| CST3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for CST3
1 / 2 / 3 5 probe-sets matching CST3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGCCTGCACC
SOURCE GeneReport for Unigene cluster: Hs.304682
Expression variation in blood from EXPOLDB for CST3 UniProtKB/Swiss-Prot: CYTC_HUMAN, P01034Tissue specificity: Found 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 |
Orthologs for CST3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for CST3 gene from 4 species
About this table Species with no ortholog for CST3
ENSEMBL Gene Tree for CST3 | Paralogs for CST3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for CST3 gene
- CST42 CST22 CST82 CSTL12 CST12 RP11-218C14.62 CST52 CST112
|
SNPs/Variants for CST3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for CST3 (up to first 250kb)
|
Disorders & Mutations for CST3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 604312 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 hemorrage 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 membrane10/91 Novoseek disease relationships for CST3 gene (see all 91
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cerebral amyloid angiopathy |
81.15 |
33 |
8711812 (4), 1853405 (4), 11760381 (2), 2364630 (2) (see all 17) |
| renal disease |
80.13 |
115 |
16908914 (8), 16408133 (4), 19374014 (3), 18434750 (2) (see all 79) |
| kidney dysfunction |
73.78 |
15 |
16609294 (3), 15603510 (1), 18226769 (1), 16870638 (1) (see all 12) |
| sporadic cerebral amyloid angiopathy |
71.33 |
5 |
11094619 (1), 11760381 (1), 9493177 (1) |
| intracerebral hemorrhage |
65.35 |
28 |
2364630 (4), 8085435 (3), 7482672 (3), 9063500 (2) (see all 16) |
| cerebral amyloid angiopathy familial |
62.62 |
1 |
15152461 (1) |
| amyloid deposition |
60.65 |
8 |
1517744 (1), 8685920 (1), 9860845 (1), 18026100 (1) (see all 6) |
| amyloidosis |
60.37 |
19 |
8085435 (2), 9063500 (1), 15904486 (1), 2201197 (1) (see all 17) |
| microalbuminuria |
59.61 |
21 |
17205961 (3), 16232367 (2), 17720520 (2), 15782299 (1) (see all 14) |
| brain hemorrhage |
59.58 |
7 |
1853405 (4), 2408196 (1), 17470433 (1), 2169252 (1) |
About this table
Human Gene Mutation Database: CST3 Genetic Association Database: CST3 Human Genome Epidemiology Navigator: CST3 (26 documents)
|
Medical News for CST3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for CST3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/709 PubMed articles for CST3 gene (see all 709
):- CST3 genotype associated with exudative age related macular degeneration. (PubMed id 11815350)3, 4, 6 Zurdel J....Richard G. (2002)
- Cystatin C levels are decreased in acute myocardial infarction: effect of cystatin C G73A gene polymorphism on plasma levels. (PubMed id 15882666)1, 3, 6 Noto D....Averna M.R. (2005)
- Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2. (PubMed id 8486384)1, 2, 3 Schnittger S....Hansmann I. (1993)
- Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: a multicentric study. (PubMed id 16213753)1, 3, 6 Babiloni C....Rossini P.M. (2006)
- Cystatin C and apoe polymorphisms in Italian Alzheimer's disease. (PubMed id 16188386)1, 3, 6 Nacmias B....Sorbi S. (2006)
- Genotype and plasma concentration of cystatin C in patients with coronary heart disease and risk for secondary cardiovascular events. (PubMed id 15860739)1, 3, 6 Loew M....Rothenbacher D. (2005)
- No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population. (PubMed id 16131730)1, 3, 6 Monastero R....Camarda R. (2005)
- Cystatin C as a risk factor for Alzheimer disease. (PubMed id 15728313)1, 3, 6 Cathcart H.M....Poduslo S.E. (2005)
- The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia. (PubMed id 14672279)1, 3, 6 Lin C....Kuo Y.M. (2003)
- Human cystatin C, an amyloidogenic protein, dimerizes through three- dimensional domain swapping. (PubMed id 11276250)1, 3, 4 Janowski R.... Jaskolski M. (2001)
|
Search for CST3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CST3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing CST3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CST3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for CST3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for CST3:

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Incremental update: 13 Oct 2009
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