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Aliases for CST3 Gene

Aliases for CST3 Gene

  • Cystatin C 2 3 5
  • Neuroendocrine Basic Polypeptide 3 4
  • Post-Gamma-Globulin 3 4
  • Gamma-Trace 3 4
  • Cystatin-3 3 4
  • Cystatin C (Amyloid Angiopathy And Cerebral Hemorrhage) 2
  • Epididymis Secretory Protein Li 2 3
  • BA218C14.4 (Cystatin C) 3
  • Cystatin 3 3
  • HEL-S-2 3
  • ARMD11 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 cerebral amyloid angiopathy and macular degeneration, age-related, 11. Among its related pathways are Transport to the Golgi and subsequent modification and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include identical protein binding and 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

Promoters for CST3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CST3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CST3 Gene

Chromosome:
20
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

Genes around CST3 on UCSC Golden Path with GeneCards custom track

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CST3 (CST3)

Protein Products

No data available for DME Specific Peptides for CST3 Gene

Domains & Families for CST3 Gene

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

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:0002020 protease binding IPI 6203523
GO:0004866 endopeptidase inhibitor activity IDA 15127951
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA,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

Human Phenotype Ontology for CST3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CST3 Gene

MGI Knock Outs for CST3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 3
endoplasmic reticulum 3
endosome 3
lysosome 3
nucleus 3
vacuole 3
cytoskeleton 2
golgi apparatus 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CST3 Gene

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for CST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IDA 6203523
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0034103 regulation of tissue remodeling IEP 10545518
GO:0043206 extracellular fibril organization IGI 18026102
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with CST3: view

No data available for SIGNOR curated interactions for CST3 Gene

Drugs & Compounds for CST3 Gene

(34) Drugs for CST3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(39) Additional Compounds for CST3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for CST3 Gene

This gene is overexpressed in Cerebrospinal fluid (49.9) and Vitreous humor (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CST3: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CST3 35
  • 75.6 (n)
  • 68.75 (a)
CST3 36
  • 66 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC607874 35
  • 78.01 (n)
  • 69.44 (a)
-- 36
  • 67 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cst3 35
  • 71.69 (n)
  • 69.05 (a)
Cst3 16
Cst3 36
  • 71 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia CST3 35
  • 89.87 (n)
  • 84.81 (a)
rat
(Rattus norvegicus)
Mammalia Cst3 35
  • 73.66 (n)
  • 73.39 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 40 (a)
OneToMany
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

(10) 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
rs28939068 Amyloidosis 6 (AMYL6) 23,635,330(-) GGAGC(A/T)GGGCC reference, missense
rs1064039 Macular degeneration, age-related, 11 (ARMD11) 23,637,790(-) CCGCG(A/G)CCGGC reference, missense
rs11504 -- 23,633,833(-) GTGGC(A/C)CCTGC intron-variant, utr-variant-3-prime
rs14766 -- 23,633,766(-) GCGGC(C/T)TTTGT intron-variant, utr-variant-3-prime
rs14767 -- 23,633,759(-) TTGTT(A/G)CTCAG intron-variant, utr-variant-3-prime

Variation tolerance for CST3 Gene

Gene Damage Index Score: 5.90; 74.29% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(32) MalaCards diseases for CST3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebral amyloid angiopathy
  • dutch hereditary cerebral amyloid angiopathy
macular degeneration, age-related, 11
  • armd11
acys amyloidosis
  • cst3-related amyloidosis
cerebral hemorrhage
amyloidosis
  • amyloid disease
- elite association - COSMIC cancer census association via MalaCards
Search CST3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CST3

Genetic Association Database (GAD)
CST3
Human Genome Epidemiology (HuGE) Navigator
CST3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CST3
genes like me logo Genes that share disorders with CST3: view

No data available for Genatlas for CST3 Gene

Publications for CST3 Gene

  1. CST3 genotype associated with exudative age related macular degeneration. (PMID: 11815350) Zurdel J. … Richard G. (Br. J. Ophthalmol. 2002) 3 4 48 67
  2. 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
  3. Insulin resistance and inflammation may have an additional role in the link between cystatin C and cardiovascular disease in type 2 diabetes mellitus patients. (PMID: 19765773) Lee S.H. … Kwon H.S. (Metab. Clin. Exp. 2010) 3 23
  4. Imbalanced serum concentration between cathepsin B and cystatin C in patients with pelvic inflammatory disease. (PMID: 18314113) Tsai H.T. … Yang S.F. (Fertil. Steril. 2009) 3 23
  5. Serum interleukin-6 in patients with metastatic bone disease: correlation with cystatin C. (PMID: 18461289) Tumminello F.M. … Leto G. (Med. Oncol. 2009) 3 23

Products for CST3 Gene

Sources for CST3 Gene

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