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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CST5 Gene

protein-coding   GIFtS: 55
GCID: GC20M023851

cystatin D

 Explore 8 diseases affiliated with
CST5 via our new
 Human Malady Compendium 
Biological research products
for CST5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cystatin D1 2
Cystatin 52
Cystatin-53
Cystatin-D1
Cysteine-Proteinase Inhibitor2
Cystatin-53

External Ids:    HGNC: 24771   Entrez Gene: 14732   Ensembl: ENSG000001703677   OMIM: 1238585   UniProtKB: P283253   

Export aliases for CST5 gene to outside databases

Previous GC identifers: GC20M023844 GC20M023804


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CST5:
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. 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 protein found in saliva and tears. The encoded
protein may play a protective role against proteinases present in the oral cavity. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CYTD_HUMAN, P28325
Function: Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral
cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B

Gene Wiki entry for CST5


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CST5 gene promoter:
         SREBP-1a   Zic1   SREBP-1c   MyoD   Nkx2-5   Nkx5-1   TGIF   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCST5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CST5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CST5


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

CST5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CST5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M023851:  view genomic region     (about GC identifiers)

Start:
23,856,572 bp from pter      End:
23,860,387 bp from pter
Size:
3,816 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CYTD_HUMAN, P28325 (See protein sequence)
Recommended Name: Cystatin-D precursor  
Size: 142 amino acids; 16080 Da
Subunit: Monomer
Subcellular location: Secreted
Mass spectrometry: Mass=13154.4675; Mass_error=0.0101; Method=Electrospray; Range=29-142; Note=Variant Arg-46;
Source=PubMed:20189825;
Mass spectrometry: Mass=13596.7015; Mass_error=0.0049; Method=Electrospray; Range=25-142; Note=Variant Arg-46;
Source=PubMed:20189825;
Caution: The truncated forms found may result from N-terminal proteolysis (PubMed:20189825)
2 PDB 3D structures from and Proteopedia for CST5:
1RN7 (3D)        1ROA (3D)    
Secondary accessions: Q5JRF5 Q9UCA0

Explore the universe of human proteins at neXtProt for CST5: NX_P28325

CST5 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001891.2  
ENSEMBL proteins: 
 ENSP00000307132  

Human Recombinant Protein Products: 
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Sino Biological Recombinant Protein for CST5
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Uscn Proteins for CST5

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IDA8083219


CST5 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for CST5


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CST5 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR018073 Prot_inh_cystat_CS
 IPR000010 Prot_inh_cystat
 IPR027214 Cystatin

Graphical View of Domain Structure for InterPro Entry P28325

ProtoNet protein and cluster: P28325

2 Blocks protein families:
IPB000010 Cysteine protease inhibitor
IPB003243 Proteinase inhibitor I25A and I25B


UniProtKB/Swiss-Prot: CYTD_HUMAN, P28325
Similarity: Belongs to the cystatin family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: CYTD_HUMAN, P28325
Function: Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral
cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B
Biophysicochemical properties: Temperature dependence: Thermostable;

     Genatlas biochemistry entry for CST5:
cystatin D,cysteine proteinase inhibitor,found at high levels in salviva,tears,seminal plasma,type 2 family

miRNA
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Inhib. RNA
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CST5

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Clone
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CST5

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004869cysteine-type endopeptidase inhibitor activity IDA8083219
GO:0005515protein binding IPI8083219


CST5 for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for CST5:
 Decreased cilium length after  

Animal Models:
     Mouse knock-out Cst10tm1Hkaw for CST5
     3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cst10):
 homeostasis/metabolism  limbs/digits/tail  skeleton 

CST5 for phenotypes           About GeneDecksing


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Endochondral Ossification
Endochondral Ossification1.00
2Gastric acid secretion
Salivary secretion0.35

Pathway sources
See GeneCards unified pathways
Show all pathways


1 BioSystems Pathway for CST5 
    Endochondral Ossification


1         Kegg Pathway  (Kegg details for CST5):
    Salivary secretion


CST5 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CST5

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CST5 (P283253 ENSP000003071324) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CTSSP257743, ENSP000003579814I2D: score=2 STRING: ENSP00000357981
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CST5 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CST5
1 Novoseek chemical compound relationship for CST5 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine 65.7 16 8083219 (4), 9573825 (2), 1939105 (2), 8340398 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about CST5 / CYTD 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CST5 gene: 
NM_001900.4  

Unigene Cluster for CST5:

Cystatin D
Hs.121489  [show with all ESTs]
Unigene Representative Sequence: CB987021
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000304710(uc002wtr.1)

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Inhib. RNA
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OriGene siRNA: CST5
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Clone
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GenScript: all cDNA clones in your preferred vector: CST5 (NM_001900)
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CST5

Additional cDNA sequence: 

BC062678.1 BC069514.1 X70377.1 

1 DOTS entry:

DT.204835 

13 AceView cDNA sequences:

NM_001900 BC062678 BC069514 X70377 BP333996 BP334744 BP334786 BP334002 
BP334304 CB957678 CB987021 BP333854 CB985957 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CST5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGCCTGCACC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image

CST5 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
Stem Cell Differentiation: 1 LifeMap Cell 
NameCategory
PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See CST5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CST5

SOURCE GeneReport for Unigene cluster: Hs.121489

UniProtKB/Swiss-Prot: CYTD_HUMAN, P28325
Tissue specificity: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level).
Expressed in parotid gland but not in seminal vesicle, prostate, epididymis, testis, ovary, placenta, thyroid, gastric
corpus, small intestine, liver, or gall bladder tissue

    SABiosciences Custom PCR Arrays for CST5
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CST5

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CST5 gene from 3/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves CYT_CHICK6
Cystatin
35(a)
1 → many
3(16498156-16500488)
lizard
(Anolis carolinensis)
Reptilia --
--
32(a)
1 → many
4(82204275-82217421)
zebrafish
(Danio rerio)
Actinopterygii zgc:1630306
cst36
zgc:163030
cystatin C (amyloid angiopathy and cerebral hemorr...
28(a)
28(a)
many ↔ many
many ↔ many
13(33894411-33896169)
13(33900031-33908388)


ENSEMBL Gene Tree for CST5 (if available)
TreeFam Gene Tree for CST5 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CST5 gene
CST22  CSTL12  CST72  CST12  CST32  CST62  CST42  CST82  
CST112  
10 SIMAP similar genes for CST5 using alignment to 1 protein entry:     CYTD_HUMAN:
CST2    CST4    CST1    CST3    CST9LP1    CST11
CST8    CST6    CSTL1    CST7

CST5 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for CST5
PGOHUM00000247471


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/171 NCBI SNPs in CST5 are shown (see all 171    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1453784121,2
--23856120(+) CCCTGA/GGGCAC 1 -- int10--------
rs1139121471,2
--23856176(+) TCTTGC/TCCATC 1 -- int12Minor allele frequency- T:0.04CSA WA 119
rs1926231441,2
--23856226(+) CACATA/TCACAC 1 -- int10--------
rs750186251,2
C--23856272(+) CTTGTG/TGAAAG 1 -- int10--------
rs780018991,2
C--23856273(+) TTGTGA/GAAAGA 1 -- int10--------
rs769681581,2
C--23856274(+) TGTGGA/TAAGAA 1 -- int10--------
rs1491889321,2
--23856292(+) TCGATC/TGCTAT 1 -- int10--------
rs60492011,2
F,H,--23856378(+) ATCCAC/TGGCCT 1 -- int16Minor allele frequency- T:0.07NS EA CSA WA 540
rs2019504451,2
--23856508(+) GCTTC-/ATAAAGG 1 -- int10--------
rs1174404851,2
F,--23856551(+) CCAAAC/TAGCCA 1 -- int11Minor allele frequency- T:0.03EA 120

HapMap Linkage Disequilibrium report for CST5 (23856572 - 23860387 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CST5
     1 CNV: 5129

SABiosciences Cancer Mutation PCR Assays
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(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.)
About This Section

CST5 for disorders           About GeneDecksing

OMIM gene information: 123858    OMIM disorders: --

8 diseases for CST5:    About MalaCards
herpes simplex    cerebral hemorrhage    rheumatoid arthritis    cerebritis
colon cancer    arthritis    thyroiditis    prostatitis

Human Genome Epidemiology (HuGE) Navigator: CST5 (1 document)

Export disorders for CST5 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)
About This Section

PubMed articles for CST5 gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with CST5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Structure and expression of the gene encoding cystatin D, a novel human cysteine proteinase inhibitor. (PubMed id 1939105)1, 2, 3, 9 Freije J.P....Lopez-Otin C. (1991)
  2. Structural and functional characterization of two allelic variants of human cystatin D sharing a characteristic inhibition spectrum against mammalian cysteine proteinases. (PubMed id 8083219)1, 2, 9 Balbin M....Abrahamson M. (1994)
  3. Crystal structure of human cystatin D, a cysteine peptidase inhibitor with restricted inhibition profile. (PubMed id 15728581)1, 2, 9 Alvarez-Fernandez M.... Su X.D. (2005)
  4. Human cystatin D. cDNA cloning, characterization of the Escherichia coli expressed inhibitor, and identification of the native protein in saliva. (PubMed id 8340398)1, 2, 9 Freije J.P.... Lopez-Otin C. (1993)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  7. A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level. (PubMed id 8444475)1, 2 Balbin M.... Lopez-Otin C. (1993)
  8. Cystatin D is a candidate tumor suppressor gene induc ed by vitamin D in human colon cancer cells. (PubMed id 19662683)1, 9 Alvarez-DA-az S....MuA+oz A. (2009)
  9. Localization of the human cystatin D gene (CST5) to chromosome 20p11.21 by in situ hybridization. (PubMed id 8422752)1, 9 Freije J.P....Lopez-Otin C. (1993)
  10. Confident assignment of intact mass tags to human salivary cystatins using top-down Fourier-transform ion cyclotron resonance mass spectrometry. (PubMed id 20189825)2, 9 Ryan C.M....Whitelegge J.P. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 1473 HGNC: 2477 AceView: CST5 Ensembl:ENSG00000170367 euGenes: HUgn1473
ECgene: CST5 Kegg: 1473 H-InvDB: CST5

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CST5 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CST5 gene:
Search GeneIP for patents involving CST5

GeneCards and IP:
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 Regulatory tfbs in CST5 promoter
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CST5
       
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