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CST9 Gene

protein-coding   GIFtS: 41
GCID: GC20M023583

Cystatin 9 (Testatin)

  See CST9-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cystatin 9 (Testatin)1 2
Cystatin-Like Molecule2 3
CLM2 3
CTES7A2
cystatin-92

External Ids:    HGNC: 132611   Entrez Gene: 1288222   Ensembl: ENSG000001733357   UniProtKB: Q5W1863   

Export aliases for CST9 gene to outside databases

Previous GC identifers: GC20M023579 GC20M023532 GC20M023534 GC20M023535 GC20M023536 GC20M023537 GC20M023538 GC20M023539 GC20M023541


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CST9 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 a secreted protein that may play a role in hematopoietic differentiation or
inflammation. (provided by RefSeq, Jul 2008)

GeneCards Summary for CST9 Gene:
CST9 (cystatin 9 (testatin)) is a protein-coding gene. Diseases associated with CST9 include breast adenocarcinoma. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST9L.

UniProtKB/Swiss-Prot: CST9_HUMAN, Q5W186
Function: May play a role in hematopoietic differentiation or inflammation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CST9 gene promoter:
         STAT5B   Bach1   ISGF-3   HTF   Bach2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   POU3F2   FOXC1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCST9 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CST9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.21

CST9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CST9 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M023583:  view genomic region     (about GC identifiers)

Start:
23,583,047 bp from pter      End:
23,586,610 bp from pter
Size:
3,564 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CST9_HUMAN, Q5W186 (See protein sequence)
Recommended Name: Cystatin-9 precursor  
Size: 159 amino acids; 18135 Da
Secondary accessions: B2RP76 Q8TD53

Explore the universe of human proteins at neXtProt for CST9: NX_Q5W186

REFSEQ proteins: NP_001008693.2  
ENSEMBL proteins: 
 ENSP00000366170  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR000010 Prot_inh_cystat
 IPR027213 CST9_like
 IPR027214 Cystatin

Graphical View of Domain Structure for InterPro Entry Q5W186

ProtoNet protein and cluster: Q5W186

UniProtKB/Swiss-Prot: CST9_HUMAN, Q5W186
Similarity: Belongs to the cystatin family


Find genes that share domains with CST9           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CST9_HUMAN, Q5W186
Function: May play a role in hematopoietic differentiation or inflammation
Induction: Up-regulated by bacterial lipopolysaccharides (LPS), in some cancer cells such as promyelocytic
leukemia cells (HL-60) or myelomonocytic leukemia cells (U-937)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004869cysteine-type endopeptidase inhibitor activity IEA--
     
Find genes that share ontologies with CST9           About GenesLikeMe


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CST9_HUMAN, Q5W186: Secreted. Note=May be targeted through the Golgi via the secretory pathway
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
cytosol1
golgi apparatus1
mitochondrion1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

Find genes that share ontologies with CST9           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CST9
Interactions:

    Search GeneGlobe Interaction Network for CST9

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for CST9



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CST9 gene: 
NM_001008693.2  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000376971(uc002wtl.3)
miRNA
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Selected AceView cDNA sequences (see all 32):

NM_080610 AI631708 AI638675 BE500968 BX380551 AA608859 AY358615 AW572915 
AA496078 BC029656 AA812885 AA758532 BX402568 AA911102 AW024125 BI825261 
AW104268 AF494536 AA973942 BX104050 AA968716 BF056783 BE041425 AA513329 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CST9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGCCCCCTC
CST9 Expression
About this image

CST9 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

UniProtKB/Swiss-Prot: CST9_HUMAN, Q5W186
Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle and pancreas. Not expressed in
brain. Barely expressed in tumor cell lines except for breast adenocarcinoma MCF-7 cells and U-251MG cells

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

ENSEMBL Gene Tree for CST9 (if available)
TreeFam Gene Tree for CST9 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CST9 gene
CST9L2  
2 SIMAP similar genes for CST9 using alignment to 1 protein entry:     CST9_HUMAN:
CST9LP1    CST9L

Find genes that share paralogs with CST9           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CST9 (see all 155)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1828048231,2
--23582670(+) CCAGGA/GCAGCT 1 -- ds50010--------
rs1158488111,2
F--23582723(+) TTCCAC/TGAACC 1 -- ds50011Minor allele frequency- T:0.01WA 118
rs1870688021,2
--23582776(+) GTGCTG/TAGTGG 1 -- ds50010--------
rs81247881,2
C,F--23582802(+) TCTTGC/TTCAGT 1 -- ds50011Minor allele frequency- T:0.03WA 118
rs73542661,2
H--23582825(+) GTGTCC/TTGCAA 1 -- ds50014Minor allele frequency- T:0.00NS EA 420
rs30041451,2
C,F,O,A,H--23582876(+) AGCCAG/CGAGCA 1 -- ds500130Minor allele frequency- C:0.29NS EA NA WA 2918
rs1911749991,2
--23582950(+) GGGAGA/GGAGGA 1 -- ds50010--------
rs1387944991,2
--23582996(+) GAGAGA/GAACTC 1 -- ds50010--------
rs1837282041,2
--23583005(+) TCCATC/TAACTG 1 -- ds50010--------
rs60364641,2
C,F,H--23583023(+) CCCTCC/TCTCCA 1 -- ds500119Minor allele frequency- T:0.26NS EA NA WA CSA 2344

HapMap Linkage Disequilibrium report for CST9 (23583047 - 23586610 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for CST9: --
Human Gene Mutation Database (HGMD): CST9
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CST9
DNA2.0 Custom Variant and Variant Library Synthesis for CST9

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for CST9:    
About MalaCards
breast adenocarcinoma


Find genes that share disorders with CST9           About GenesLikeMe

Genetic Association Database (GAD): CST9
Human Genome Epidemiology (HuGE) Navigator: CST9 (1 document)

Export disorders for CST9 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CST9 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CST9)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Molecular cloning and characterization of a novel cystatin-like molecule, CLM, from human bone marrow stromal cells. (PubMed id 12535658)1, 2, 9 Sun H.... Cao X. (Biochem. Biophys. Res. Commun. 2003)
  2. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. (PubMed id 20565543)1, 3 Frygelius J....TAPhAPnen V. (amp 2010)
  3. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
  4. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)1, 4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
  5. Immunomodulatory and antibacterial effects of cystatin 9 against Francisella tularensis. (PubMed id 23922243)1 Eaves-Pyles T....Almeida I.C. (Mol. Med. 2013)
  6. A genomic analysis of rat proteases and protease inhibitors. (PubMed id 15060002)1 Puente X.S. and Lopez-Otin C. (Genome Res. 2004)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (Nature 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 128822 HGNC: 13261 AceView: CST9LandCST9 Ensembl:ENSG00000173335 euGenes: HUgn128822
ECgene: CST9 H-InvDB: CST9

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CST9 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CST9 gene:
Search GeneIP for patents involving CST9

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CST9
 SwitchGear 3'UTR luciferase reporter plasmids for CST9
 SwitchGear Promoter luciferase reporter plasmids for CST9
 ThermoFisher Antibodies for CST9
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CST9
 Browse compounds at ApexBio
 Search Addgene for plasmids for CST9
  Search eBioscience for proteins for CST9
  Search eBioscience for elisas for CST9
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for CST9
 antibodies-online antibodies for CST9 (2 products)
 antibodies-online kits for CST9 (3 products)
 antibodies-online peptides for CST9
 antibodies-online proteins for CST9 (3 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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