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CST3 (cystatin C)

Identity

Alias_namescystatin C (amyloid angiopathy and cerebral hemorrhage)
HGNC (Hugo) CST3
LocusID (NCBI) 1471
Atlas_Id 40177
Location 20p11.21  [Link to chromosome band 20p11]
Location_base_pair Starts at 23614294 and ends at 23618685 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CST3 (20p11.21) / BRF1 (14q32.33)CST3 (20p11.21) / CST3 (20p11.21)CST3 (20p11.21) / VPS13D (1p36.22)
KCTD7 (7q11.21) / CST3 (20p11.21)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CST3   2475
Cards
Entrez_Gene (NCBI)CST3  1471  cystatin C
AliasesARMD11; HEL-S-2
GeneCards (Weizmann)CST3
Ensembl hg19 (Hinxton)ENSG00000101439 [Gene_View]  chr20:23614294-23618685 [Contig_View]  CST3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101439 [Gene_View]  chr20:23614294-23618685 [Contig_View]  CST3 [Vega]
ICGC DataPortalENSG00000101439
TCGA cBioPortalCST3
AceView (NCBI)CST3
Genatlas (Paris)CST3
WikiGenes1471
SOURCE (Princeton)CST3
Genetics Home Reference (NIH)CST3
Genomic and cartography
GoldenPath hg19 (UCSC)CST3  -     chr20:23614294-23618685 -  20p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CST3  -     20p11.21   [Description]    (hg38-Dec_2013)
EnsemblCST3 - 20p11.21 [CytoView hg19]  CST3 - 20p11.21 [CytoView hg38]
Mapping of homologs : NCBICST3 [Mapview hg19]  CST3 [Mapview hg38]
OMIM105150   604312   611953   
Gene and transcription
Genbank (Entrez)AB587083 AK312213 BC013083 BC110305 BF509512
RefSeq transcript (Entrez)NM_000099 NM_001288614
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_012887 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)CST3
Cluster EST : UnigeneHs.304682 [ NCBI ]
CGAP (NCI)Hs.304682
Alternative Splicing GalleryENSG00000101439
Gene ExpressionCST3 [ NCBI-GEO ]   CST3 [ EBI - ARRAY_EXPRESS ]   CST3 [ SEEK ]   CST3 [ MEM ]
Gene Expression Viewer (FireBrowse)CST3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1471
GTEX Portal (Tissue expression)CST3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01034   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01034  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01034
Splice isoforms : SwissVarP01034
PhosPhoSitePlusP01034
Domaine pattern : Prosite (Expaxy)CYSTATIN (PS00287)   
Domains : Interpro (EBI)Cystatin    Cystatin_dom    Prot_inh_cystat_CS   
Domain families : Pfam (Sanger)Cystatin (PF00031)   
Domain families : Pfam (NCBI)pfam00031   
Domain families : Smart (EMBL)CY (SM00043)  
Conserved Domain (NCBI)CST3
DMDM Disease mutations1471
Blocks (Seattle)CST3
PDB (SRS)1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
PDB (PDBSum)1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
PDB (IMB)1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
PDB (RSDB)1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
Structural Biology KnowledgeBase1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
SCOP (Structural Classification of Proteins)1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
CATH (Classification of proteins structures)1G96    1R4C    1TIJ    3GAX    3NX0    3PS8    3QRD    3S67    3SVA   
SuperfamilyP01034
Human Protein AtlasENSG00000101439
Peptide AtlasP01034
HPRD05056
IPIIPI00032293   
Protein Interaction databases
DIP (DOE-UCLA)P01034
IntAct (EBI)P01034
FunCoupENSG00000101439
BioGRIDCST3
STRING (EMBL)CST3
ZODIACCST3
Ontologies - Pathways
QuickGOP01034
Ontology : AmiGObeta-amyloid binding  protease binding  endopeptidase inhibitor activity  cysteine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  defense response  negative regulation of peptidase activity  negative regulation of collagen catabolic process  negative regulation of extracellular matrix disassembly  negative regulation of extracellular matrix disassembly  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  extracellular matrix  regulation of tissue remodeling  identical protein binding  extracellular fibril organization  cellular protein metabolic process  negative regulation of proteolysis  negative regulation of elastin catabolic process  negative regulation of blood vessel remodeling  extracellular exosome  
Ontology : EGO-EBIbeta-amyloid binding  protease binding  endopeptidase inhibitor activity  cysteine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  defense response  negative regulation of peptidase activity  negative regulation of collagen catabolic process  negative regulation of extracellular matrix disassembly  negative regulation of extracellular matrix disassembly  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  extracellular matrix  regulation of tissue remodeling  identical protein binding  extracellular fibril organization  cellular protein metabolic process  negative regulation of proteolysis  negative regulation of elastin catabolic process  negative regulation of blood vessel remodeling  extracellular exosome  
Pathways : KEGGSalivary secretion   
NDEx NetworkCST3
Atlas of Cancer Signalling NetworkCST3
Wikipedia pathwaysCST3
Orthology - Evolution
OrthoDB1471
GeneTree (enSembl)ENSG00000101439
Phylogenetic Trees/Animal Genes : TreeFamCST3
HOVERGENP01034
HOGENOMP01034
Homologs : HomoloGeneCST3
Homology/Alignments : Family Browser (UCSC)CST3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCST3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CST3
dbVarCST3
ClinVarCST3
1000_GenomesCST3 
Exome Variant ServerCST3
ExAC (Exome Aggregation Consortium)CST3 (select the gene name)
Genetic variants : HAPMAP1471
Genomic Variants (DGV)CST3 [DGVbeta]
DECIPHER (Syndromes)20:23614294-23618685  ENSG00000101439
CONAN: Copy Number AnalysisCST3 
Mutations
ICGC Data PortalCST3 
TCGA Data PortalCST3 
Broad Tumor PortalCST3
OASIS PortalCST3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCST3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCST3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CST3
DgiDB (Drug Gene Interaction Database)CST3
DoCM (Curated mutations)CST3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CST3 (select a term)
intoGenCST3
Cancer3DCST3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105150    604312    611953   
Orphanet14581   
MedgenCST3
Genetic Testing Registry CST3
NextProtP01034 [Medical]
TSGene1471
GENETestsCST3
Huge Navigator CST3 [HugePedia]
snp3D : Map Gene to Disease1471
BioCentury BCIQCST3
ClinGenCST3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1471
Chemical/Pharm GKB GenePA26976
Clinical trialCST3
Miscellaneous
canSAR (ICR)CST3 (select the gene name)
Probes
Litterature
PubMed396 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCST3
EVEXCST3
GoPubMedCST3
iHOPCST3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:34:54 CET 2016

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