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Aliases for CST3 Gene

Aliases for CST3 Gene

  • Cystatin C 2 3
  • Neuroendocrine Basic Polypeptide 3 4
  • Post-Gamma-Globulin 3 4
  • Gamma-Trace 3 4
  • Cystatin-3 3 4
  • ARMD11 3 6
  • Cystatin C (Amyloid Angiopathy And Cerebral Hemorrhage) 2
  • BA218C14.4 (Cystatin C) 3
  • Cystatin 3 3
  • Cystatin-C 3

External Ids for CST3 Gene

Previous GeneCards Identifiers for CST3 Gene

  • GC20M023602
  • GC20M023609
  • GC20M023562

Summaries for CST3 Gene

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. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]

GeneCards Summary for CST3 Gene

CST3 (Cystatin C) is a Protein Coding gene. Diseases associated with CST3 include macular degeneration, age-related, 11 and cerebral amyloid angiopathy. Among its related pathways are Disease and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include protease binding and cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST2.

UniProtKB/Swiss-Prot for CST3 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST3 Gene

Genomics for CST3 Gene

Regulatory Elements for CST3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CST3 Gene

Start:
23,626,706 bp from pter
End:
23,638,473 bp from pter
Size:
11,768 bases
Orientation:
Minus strand

Genomic View for CST3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CST3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST3 Gene

Proteins for CST3 Gene

  • Protein details for CST3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01034-CYTC_HUMAN
    Recommended name:
    Cystatin-C
    Protein Accession:
    P01034
    Secondary Accessions:
    • B2R5J9
    • D3DW42
    • Q6FGW9

    Protein attributes for CST3 Gene

    Size:
    146 amino acids
    Molecular mass:
    15799 Da
    Quaternary structure:
    • Homodimer
    Miscellaneous:
    • Potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease

    Three dimensional structures from OCA and Proteopedia for CST3 Gene

neXtProt entry for CST3 Gene

Proteomics data for CST3 Gene at MOPED

Post-translational modifications for CST3 Gene

  • 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-21.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CST3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for CST3 Gene

Domains for CST3 Gene

Suggested Antigen Peptide Sequences for CST3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01034

UniProtKB/Swiss-Prot:

CYTC_HUMAN :
  • P01034
Family:
  • Belongs to the cystatin family.
genes like me logo Genes that share domains with CST3: view

No data available for Gene Families for CST3 Gene

Function for CST3 Gene

Molecular function for CST3 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IPI 18026102
GO:0002020 protease binding IPI 6203523
GO:0004866 endopeptidase inhibitor activity IDA 15127951
GO:0004869 cysteine-type endopeptidase inhibitor activity IDA 3488317
GO:0005515 protein binding IPI 15127951
genes like me logo Genes that share ontologies with CST3: view
genes like me logo Genes that share phenotypes with CST3: view

Animal Models for CST3 Gene

MGI Knock Outs for CST3:

Animal Model Products

miRNA for CST3 Gene

miRTarBase miRNAs that target CST3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CST3 Gene

Localization for CST3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CST3 Gene COMPARTMENTS Subcellular localization image for CST3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
lysosome 2
nucleus 2
vacuole 2
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005764 lysosome IEA --
GO:0005771 multivesicular body IEA --
genes like me logo Genes that share ontologies with CST3: view

Pathways for CST3 Gene

genes like me logo Genes that share pathways with CST3: view

Pathways by source for CST3 Gene

1 BioSystems pathway for CST3 Gene
2 Reactome pathways for CST3 Gene
1 KEGG pathway for CST3 Gene
1 R&D Systems pathway for CST3 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IEA --
GO:0001666 response to hypoxia IEA --
GO:0001775 cell activation IEA --
GO:0006915 apoptotic process IEA --
GO:0006952 defense response IDA 6203523
genes like me logo Genes that share ontologies with CST3: view

Compounds for CST3 Gene

(73) Novoseek inferred chemical compound relationships for CST3 Gene

Compound -log(P) Hits PubMed IDs
creatinine 88.3 399
cysteine 80.3 132
iohexol 74 19
inulin 68.4 16
actinidin 67.8 7
genes like me logo Genes that share compounds with CST3: view

Transcripts for CST3 Gene

mRNA/cDNA for CST3 Gene

Unigene Clusters for CST3 Gene

Cystatin C:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CST3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CST3 Gene

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

Relevant External Links for CST3 Gene

GeneLoc Exon Structure for
CST3
ECgene alternative splicing isoforms for
CST3

Expression for CST3 Gene

mRNA expression in normal human tissues for CST3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CST3 Gene

SOURCE GeneReport for Unigene cluster for CST3 Gene Hs.304682

mRNA Expression by UniProt/SwissProt for CST3 Gene

P01034-CYTC_HUMAN
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.
genes like me logo Genes that share expressions with CST3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CST3 Gene

Orthologs for CST3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CST3 35
  • 89.87 (n)
  • 84.81 (a)
cow
(Bos Taurus)
Mammalia CST3 35
  • 75.6 (n)
  • 68.75 (a)
CST3 36
  • 66 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 67 (a)
OneToMany
LOC607874 35
  • 78.01 (n)
  • 69.44 (a)
mouse
(Mus musculus)
Mammalia Cst3 35
  • 71.69 (n)
  • 69.05 (a)
Cst3 16
Cst3 36
  • 71 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 40 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cst3 35
  • 73.66 (n)
  • 73.39 (a)
chicken
(Gallus gallus)
Aves CST3 35
  • 59.46 (n)
  • 45.95 (a)
gga-mir-3526 36
  • 38 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 42 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485774 35
  • 48.33 (n)
  • 43.33 (a)
zebrafish
(Danio rerio)
Actinopterygii cst3 36
  • 33 (a)
ManyToMany
Species with no ortholog for CST3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CST3 Gene

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

Paralogs for CST3 Gene

Paralogs for CST3 Gene

Selected SIMAP similar genes for CST3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for CST3 Gene

genes like me logo Genes that share paralogs with CST3: view

Variants for CST3 Gene

Sequence variations from dbSNP and Humsavar for CST3 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs11504 -- 23,633,833(-) GTGGC(A/C)CCTGC utr-variant-3-prime, intron-variant
rs14766 -- 23,633,766(-) GCGGC(C/T)TTTGT utr-variant-3-prime, intron-variant
rs14767 -- 23,633,759(-) TTGTT(A/G)CTCAG utr-variant-3-prime, intron-variant
rs14768 -- 23,633,758(-) TGTTN(C/T)TCAGC utr-variant-3-prime, intron-variant
rs734801 -- 23,632,154(-) CTGCT(C/T)CCTTC intron-variant

Relevant External Links for CST3 Gene

HapMap Linkage Disequilibrium report
CST3
Human Gene Mutation Database (HGMD)
CST3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CST3 Gene

Disorders for CST3 Gene

(2) OMIM Diseases for CST3 Gene (604312)

UniProtKB/Swiss-Prot

CYTC_HUMAN
  • 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. {ECO:0000269 PubMed:1352269, ECO:0000269 PubMed:2541223}. 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. {ECO:0000269 PubMed:11815350}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(94) Novoseek inferred disease relationships for CST3 Gene

Disease -log(P) Hits PubMed IDs
renal disease 82.5 127
cerebral amyloid angiopathy 80 28
kidney dysfunction 74.2 14
sporadic cerebral amyloid angiopathy 70.5 3
microalbuminuria 63.7 28

Relevant External Links for CST3

Genetic Association Database (GAD)
CST3
Human Genome Epidemiology (HuGE) Navigator
CST3
genes like me logo Genes that share disorders with CST3: view

Publications for CST3 Gene

  1. 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. (PMID: 8486384) Schnittger S. … Hansmann I. (Genomics 1993) 2 3 23
  2. Human cystatin C, an amyloidogenic protein, dimerizes through three- dimensional domain swapping. (PMID: 11276250) Janowski R. … Jaskolski M. (Nat. Struct. Biol. 2001) 3 4 23
  3. Alzheimer's disease and the cystatin C gene polymorphism: an association study. (PMID: 11711204) Beyer K. … Ariza A. (Neurosci. Lett. 2001) 3 23 48
  4. Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease. (PMID: 11074789) Finckh U. … Nitsch R.M. (Arch. Neurol. 2000) 3 23 48
  5. The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia. (PMID: 14672279) Lin C. … Kuo Y.M. (Chin J Physiol 2003) 3 23 48

Products for CST3 Gene

Sources for CST3 Gene

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