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CST3 (cystatin C)

Identity

Other namesARMD11
HGNC (Hugo) CST3
LocusID (NCBI) 1471
Atlas_Id 40177
Location 20p11.21
Location_base_pair Starts at 23614294 and ends at 23618685 bp from pter ( according to hg19-Feb_2009)

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
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
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 : Fast-db (Paris)GSHG0019070
Alternative Splicing GalleryENSG00000101439
Gene ExpressionCST3 [ NCBI-GEO ]     CST3 [ SEEK ]   CST3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01034 (Uniprot)
NextProtP01034  [Medical]  [Publications]
With graphics : InterProP01034
Splice isoforms : SwissVarP01034 (Swissvar)
Domaine pattern : Prosite (Expaxy)CYSTATIN (PS00287)   
Domains : Interpro (EBI)Cystatin    Prot_inh_cystat    Prot_inh_cystat_CS   
Related proteins : CluSTrP01034
Domain families : Pfam (Sanger)Cystatin (PF00031)   
Domain families : Pfam (NCBI)pfam00031   
Domain families : Smart (EMBL)CY (SM00043)  
DMDM Disease mutations1471
Blocks (Seattle)P01034
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   
Human Protein AtlasENSG00000101439
Peptide AtlasP01034
HPRD05056
IPIIPI00032293   
Protein Interaction databases
DIP (DOE-UCLA)P01034
IntAct (EBI)P01034
FunCoupENSG00000101439
BioGRIDCST3
IntegromeDBCST3
STRING (EMBL)CST3
Ontologies - Pathways
QuickGOP01034
Ontology : AmiGObeta-amyloid binding  eye development  response to hypoxia  cell activation  protease binding  endopeptidase inhibitor activity  cysteine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  basement membrane  extracellular space  lysosome  multivesicular body  endoplasmic reticulum  apoptotic process  defense response  brain development  salivary gland development  embryo implantation  positive regulation of cell proliferation  response to toxic substance  response to carbohydrate  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  axon  response to nutrient levels  nuclear membrane  response to estradiol  regulation of tissue remodeling  response to drug  circadian sleep/wake cycle, REM sleep  identical protein binding  neuronal cell body  regulation of programmed cell death  extracellular fibril organization  contractile fiber  positive regulation of DNA replication  negative regulation of proteolysis  perinuclear region of cytoplasm  response to axon injury  Sertoli cell development  negative regulation of elastin catabolic process  negative regulation of blood vessel remodeling  negative regulation of cell death  extracellular exosome  cellular response to hydrogen peroxide  
Ontology : EGO-EBIbeta-amyloid binding  eye development  response to hypoxia  cell activation  protease binding  endopeptidase inhibitor activity  cysteine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  basement membrane  extracellular space  lysosome  multivesicular body  endoplasmic reticulum  apoptotic process  defense response  brain development  salivary gland development  embryo implantation  positive regulation of cell proliferation  response to toxic substance  response to carbohydrate  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  axon  response to nutrient levels  nuclear membrane  response to estradiol  regulation of tissue remodeling  response to drug  circadian sleep/wake cycle, REM sleep  identical protein binding  neuronal cell body  regulation of programmed cell death  extracellular fibril organization  contractile fiber  positive regulation of DNA replication  negative regulation of proteolysis  perinuclear region of cytoplasm  response to axon injury  Sertoli cell development  negative regulation of elastin catabolic process  negative regulation of blood vessel remodeling  negative regulation of cell death  extracellular exosome  cellular response to hydrogen peroxide  
Pathways : KEGGSalivary secretion   
Protein Interaction DatabaseCST3
DoCM (Curated mutations)CST3
Wikipedia pathwaysCST3
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerCST3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CST3
dbVarCST3
ClinVarCST3
1000_GenomesCST3 
Exome Variant ServerCST3
SNP (GeneSNP Utah)CST3
SNP : HGBaseCST3
Genetic variants : HAPMAPCST3
Genomic Variants (DGV)CST3 [DGVbeta]
Mutations
ICGC Data PortalCST3 
TCGA Data PortalCST3 
Tumor PortalCST3
Somatic Mutations in Cancer : COSMICCST3 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:23614294-23618685
CONAN: Copy Number AnalysisCST3 
Mutations and Diseases : HGMDCST3
OMIM105150    604312    611953   
MedgenCST3
NextProtP01034 [Medical]
GENETestsCST3
Disease Genetic AssociationCST3
Huge Navigator CST3 [HugePedia]  CST3 [HugeCancerGEM]
snp3D : Map Gene to Disease1471
DGIdb (Drug Gene Interaction db)CST3
BioCentury BCIQCST3
General knowledge
Homologs : HomoloGeneCST3
Homology/Alignments : Family Browser (UCSC)CST3
Phylogenetic Trees/Animal Genes : TreeFamCST3
Chemical/Protein Interactions : CTD1471
Chemical/Pharm GKB GenePA26976
Clinical trialCST3
Cancer Resource (Charite)ENSG00000101439
Other databases
Probes
Litterature
PubMed363 Pubmed reference(s) in Entrez
CoreMineCST3
GoPubMedCST3
iHOPCST3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:25:12 CEST 2015

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