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

CTSZ Gene

protein-coding   GIFtS: 62
GCID: GC20M057570

Cathepsin Z

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cathepsin Z1 2     Cysteine-Type Carboxypeptidase1 2
Cathepsin X1 2 3     Lysosomal Carboxypeptidase B1 2
Carboxypeptidase LB1 2     Cathepsin P2 3
Cathepsin B21 2     EC 3.4.18.13 8
Cathepsin IV1 2     CTSX2
Cathepsin Y1 2     Preprocathepsin P2
Cathepsin Z11 2     

External Ids:    HGNC: 25471   Entrez Gene: 15222   Ensembl: ENSG000001011607   OMIM: 6031695   UniProtKB: Q9UBR23   

Export aliases for CTSZ gene to outside databases

Previous GC identifers: GC20M057298 GC20M058208 GC20M058255 GC20M057003 GC20M054357


(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 CTSZ Gene:
The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It
exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known
as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and,
like other members of this family, may be involved in tumorigenesis. (provided by RefSeq, Oct 2008)

GeneCards Summary for CTSZ Gene: 
CTSZ (cathepsin Z) is a protein-coding gene. Diseases associated with CTSZ include intestinal volvulus, and dacryoadenitis, and among its related super-pathways are Clathrin derived vesicle budding and Renin-angiotensin system. GO annotations related to this gene include cysteine-type peptidase activity. An important paralog of this gene is TINAG.

UniProtKB/Swiss-Prot: CATZ_HUMAN, Q9UBR2
Function: Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity

Gene Wiki entry for CTSZ (Cathepsin Z) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTSZ gene promoter:
         SRF   C/EBPbeta   Pax-6   SRF (504 AA)   YY1   C/EBPalpha   En-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSZ promoter sequence
   Search SABiosciences Chromatin IP Primers for CTSZ

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


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

Entrez Gene cytogenetic band: 20q13.32   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13.32

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M057570:  view genomic region     (about GC identifiers)

Start:
57,570,240 bp from pter      End:
57,582,309 bp from pter
Size:
12,070 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CATZ_HUMAN, Q9UBR2 (See protein sequence)
Recommended Name: Cathepsin Z precursor  
Size: 303 amino acids; 33868 Da
Subcellular location: Lysosome
2 PDB 3D structures from and Proteopedia for CTSZ:
1DEU (3D)        1EF7 (3D)    
Secondary accessions: B2RC40 O75331 Q9UQV5 Q9UQV6

Explore the universe of human proteins at neXtProt for CTSZ: NX_Q9UBR2

Explore proteomics data for CTSZ at MOPED 

4/5 DME Specific Peptides for CTSZ (Q9UBR2) (see all 5)
 RIVTSTYK  NGPISCGIMATE  EYWIVRNSWGEPWGE  TRNQHIPQYCGSCWAH 

CTSZ Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CTSZ Protein Expression
REFSEQ proteins: NP_001327.2  
ENSEMBL proteins: 
 ENSP00000217131  
Reactome Protein details: Q9UBR2
Human Recombinant Protein Products for CTSZ: 
Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for CTSZ (Cathepsin X/Z/P)
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for CTSZ
OriGene Protein Over-expression Lysate for CTSZ
OriGene MassSpec for CTSZ 
OriGene Custom Protein Services for CTSZ
GenScript Custom Purified and Recombinant Proteins Services for CTSZ
Novus Biologicals CTSZ Proteins
Novus Biologicals CTSZ Lysates
Sino Biological Recombinant Protein for CTSZ
Sino Biological Cell Lysate for CTSZ 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for CTSZ 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005615extracellular space IDA--
GO:0005764lysosome IEA--
GO:0005783endoplasmic reticulum IDA--
GO:0005886plasma membrane TAS--

CTSZ for ontologies           About GeneDecksing



CTSZ Antibody Products: 
Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
R&D Systems Antibodies for CTSZ (Cathepsin X/Z/P)
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OriGene Custom Antibody Services for CTSZ
GenScript Custom Superior Antibodies Services for CTSZ
Novus Biologicals CTSZ Antibodies
Abcam antibodies for CTSZ
Cloud-Clone Corp. Antibodies for CTSZ 
Search ThermoFisher Antibodies for CTSZ
LSBio Antibodies in human, mouse, rat for CTSZ 

Assay Products for CTSZ: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for CTSZ
R&D Systems Proteome Profiler Antibody Arrays for CTSZ (Cathepsin X/Z/P)
GenScript CTSZ-Activity-based Protease Assay for Compound Screening
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for CTSZ 
Cloud-Clone Corp. CLIAs for CTSZ


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
CTS: Cathepsins

3 InterPro protein domains:
 IPR013128 Peptidase_C1A
 IPR025661 Pept_asp_AS
 IPR000668 Peptidase_C1A_C

Graphical View of Domain Structure for InterPro Entry Q9UBR2

ProtoNet protein and cluster: Q9UBR2

1 Blocks protein domain: IPB000668 Papain cysteine protease (C1) family signature

UniProtKB/Swiss-Prot: CATZ_HUMAN, Q9UBR2
Similarity: Belongs to the peptidase C1 family


CTSZ for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: CATZ_HUMAN, Q9UBR2
Function: Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity
Catalytic activity: Release of C-terminal amino acid residues with broad specificity, but lacks action on
C-terminal proline. Shows weak endopeptidase activity

     Genatlas biochemistry entry for CTSZ:
cathepsin Z,cysteine proteinase,papain superfamily member,ubiquitously expressed,involved normal intracellular
degradation

     Enzyme Number (IUBMB): EC 3.4.18.11 2

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

GO IDQualified GO termEvidencePubMed IDs
GO:0008234cysteine-type peptidase activity IEA--
     
CTSZ for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for CTSZ:
 Increased cell death in breast 

     4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ctsz):
 cellular  normal  renal/urinary system  tumorigenesis 

CTSZ for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for CTSZ 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CTSZ

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTSZ 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTSZ 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSZ
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CTSZ
SwitchGear 3'UTR luciferase reporter plasmidCTSZ 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for CTSZ
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSZ

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for CTSZ
Sirion Biotech Customized adenovirus for overexpression of CTSZ

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for CTSZ (see all 7)
OriGene ORF clones in mouse, rat for CTSZ
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: CTSZ (NM_001336)
Sino Biological Human cDNA Clone for CTSZ
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSZ
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSZ
Sirion Biotech Customized lentivirus for stable overexpression of CTSZ 
                     Customized lentivirus expression plasmids for stable overexpression of CTSZ 

Cell Line
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GenScript Custom overexpressing Cell Line Services for CTSZ
Search LifeMap BioReagents cell lines for CTSZ
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSZ


(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CTSZ About   (see all 6)                                                                                              See pathways by source

SuperPathContained pathways About
1Clathrin derived vesicle budding
Clathrin derived vesicle budding0.89
Lysosome Vesicle Biogenesis0.39
trans-Golgi Network Vesicle Budding0.89
2Renin-angiotensin system
Metabolism of Angiotensinogen to Angiotensins0.43
3Insulin Processing
Peptide hormone metabolism0.39
4Asparagine N-linked glycosylation
Metabolism of proteins0.35
5Membrane Trafficking
Membrane Trafficking0.32

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



5/7        Reactome Pathways for CTSZ (see all 7)
    Metabolism of Angiotensinogen to Angiotensins
Membrane Trafficking
Clathrin derived vesicle budding
Metabolism of proteins
trans-Golgi Network Vesicle Budding


1         Kegg Pathway  (Kegg details for CTSZ):
    Lysosome


CTSZ for pathways           About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

4 Interacting proteins for CTSZ (Q9UBR23 ENSP000002171314) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
AMY2AP047463I2D: score=1 
KRTAP5-9P263713I2D: score=1 
ACE2ENSP000002525194STRING: ENSP00000252519
ATP6AP2ENSP000003676974STRING: ENSP00000367697
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002003angiotensin maturation TAS--
GO:0006508proteolysis IEA--
GO:0044267cellular protein metabolic process TAS--
GO:0060441epithelial tube branching involved in lung morphogenesis IEA--

CTSZ for ontologies           About GeneDecksing



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

CTSZ for compounds           About GeneDecksing

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

Browse Tocris compounds for CTSZ (CATZ)

1 Novoseek inferred chemical compound relationship for CTSZ gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine 55.9 10 9642240 (4), 10760573 (2), 10653162 (1), 17218008 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about CTSZ / CATZ

(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,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CTSZ gene: 
NM_001336.3  

Unigene Cluster for CTSZ:

Cathepsin Z
Hs.252549  [show with all ESTs]
Unigene Representative Sequence: NM_001336
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000217131(uc002yai.2) ENST00000503833(uc002yaj.4) ENST00000488395
ENST00000472025
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSZ
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CTSZ
SwitchGear 3'UTR luciferase reporter plasmidCTSZ 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for CTSZ
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSZ
Clone
Products:
     
OriGene clones in human, mouse for CTSZ (see all 7)
OriGene ORF clones in mouse, rat for CTSZ
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: CTSZ (NM_001336)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSZ
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSZ
Sirion Biotech Customized lentivirus for stable overexpression of CTSZ 
                     Customized lentivirus expression plasmids for stable overexpression of CTSZ 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for CTSZ
OriGene qSTAR qPCR primer pairs in human, mouse for CTSZ
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CTSZ
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSZ
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSZ

Additional mRNA sequence: 

AF009923.1 AF073890.1 AF136273.1 AK314931.1 BC025419.2 BC042168.1 BT019915.1 

19 DOTS entries:

DT.97759997  DT.448927  DT.95076513  DT.99933713  DT.120833594  DT.95261096  DT.95261097  DT.100783553 
DT.87078881  DT.75176018  DT.91748864  DT.95261005  DT.120833540  DT.120833583  DT.91707044  DT.120833566 
DT.121413598  DT.91777786  DT.95351331 

24/231 AceView cDNA sequences (see all 231):

AI377517 BE747230 AI422113 CN485127 AW009155 AI301323 AI420441 AI363372 
BE501860 AI762554 AI073435 AI521288 AI472198 AI274264 AI802976 AA912840 
BE501841 BM129317 AI081224 AI479956 CF131397 AI168099 AI377190 BM837068 

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

CTSZ expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCTCTGCCTC
CTSZ Expression
About this image


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

SOURCE GeneReport for Unigene cluster: Hs.252549

UniProtKB/Swiss-Prot: CATZ_HUMAN, Q9UBR2
Tissue specificity: Widely expressed

    SABiosciences Custom PCR Arrays for CTSZ
Primer
Products:
OriGene qPCR primer pairs and template standards for CTSZ
OriGene qSTAR qPCR primer pairs in human, mouse for CTSZ
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CTSZ
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSZ
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSZ
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSZ

(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 animals.

Orthologs for CTSZ gene from 7/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ctsz1 , 5 cathepsin Z1, 5 83.62(n)1
84.98(a)1
  2 (97.94 cM)5
641381  NM_022325.41  NP_071720.11 
 1744274935 
chicken
(Gallus gallus)
Aves CTSZ1 cathepsin Z 70.44(n)
73.33(a)
  419311  XM_417483.3  XP_417483.3 
lizard
(Anolis carolinensis)
Reptilia --
--
(see all 4)
--
72(a)
65(a)
(see all 4)
possible ortholog
possible ortholog
(see all 4)
GL343475.1(579853-603101)
GL343475.1(560752-568412)
African clawed frog
(Xenopus laevis)
Amphibia Xl.85872 Xenopus laevis transcribed sequence with weak similarity more 78.23(n)    CB944759.1 
zebrafish
(Danio rerio)
Actinopterygii ctsz1 cathepsin Z 65.19(n)
65.53(a)
  450022  NM_001006043.1  NP_001006043.1 
fruit fly
(Drosophila melanogaster)
Insecta CG63476
CG48476
(see all 4)
--
18(a)
16(a)
(see all 4)
possible ortholog
possible ortholog
(see all 4)
2R(9723926-9726869)
2R(13399028-13401364)
worm
(Caenorhabditis elegans)
Secernentea F32B5.83
cpz-11
cysteine proteinase3
Protein CPZ-11
62(a)
(best of 2)3
61.67(n)1
63.75(a)1
  I(2686699-2691806)3
1718291  NM_058622.41  NP_491023.21 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CTSZ gene
TINAG2  CTSF2  CTSO2  CTSW2  CTSK2  CTSV2  CTSB2  CTSS2  
CTSH2  CTSC2  TINAGL12  CTSL2  

CTSZ for paralogs           About GeneDecksing



(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) 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

10/378 SNPs in CTSZ are shown (see all 378)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0102544
----see VAR_0102542 P S mis40--------
VAR_0102554
----see VAR_0102552 A R mis40--------
rs110866621,2
C--54361483(+) ACCTTC/-CATCT 1 -- int12Minor allele frequency- -:0.00NA 4
rs106273561,2
C--54361529(+) GAGAA-/TTCTTTCT 1 -- cds10--------
rs2003423371,2
--54362046(+) AAAAA-/AAAAAC
        
AAACT
1 -- int10--------
rs1132255811,2
C--54362047(+) AAAAA-/AAAAC 
        
AAACT
1 -- int11Minor allele frequency- AAAAC:0.00CSA 2
rs2000533691,2
C--54362047(+) AAAAA-/AAAAC 
        
AAACT
1 -- int10--------
rs2018880621,2
--57539740(+) ATCCTC/TCAGAG 1 -- ds50010--------
rs73411,2
C,F,A,H--57539811(+) GGCTCG/TGGCAG 1 -- ds500124Minor allele frequency- T:0.41MN NS EA NA CSA WA 2667
rs10432191,2
C--57539855(+) GATGAC/GTTCTT 1 -- ds50015Minor allele frequency- G:0.10MN NA CSA EA 427

HapMap Linkage Disequilibrium report for CTSZ (57570240 - 57582309 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for CTSZ:    About this table     
Variant IDTypeSubtypePubMed ID
nsv525118CNV Loss19592680
nsv912963CNV Gain21882294


Human Gene Mutation Database (HGMD): CTSZ
SABiosciences Cancer Mutation PCR Assays
1 SABiosciences qBiomarker Copy Number PCR Array containing CTSZ:
Pancreatic Cancer
SeqTarget long-range PCR primers for resequencing CTSZ
DNA2.0 Custom Variant and Variant Library Synthesis for CTSZ

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 603169    OMIM disorders: --

5 diseases for CTSZ:    About MalaCards
intestinal volvulus    dacryoadenitis    protein s deficiency    choriocarcinoma
tuberculosis


CTSZ for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for CTSZ gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
protein deficiency 69.9 1 15849265 (1)

Genetic Association Database (GAD): CTSZ
Human Genome Epidemiology (HuGE) Navigator: CTSZ (4 documents)

Export disorders for CTSZ 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 CTSZ gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with CTSZ)
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  1. Cathepsin Z, a novel human cysteine proteinase with a short propeptide domain and a unique chromosomal location. (PubMed id 9642240)1, 2, 3, 9 Santamaria I.... Lopez-Otin C. (1998)
  2. Murine and human cathepsin Z: cDNA-cloning, characterization of the genes and chromosomal localization. (PubMed id 10760573)1, 2, 9 Deussing J.... Peters C. (2000)
  3. Identification and molecular cloning of cathepsin P, a novel human putative cysteine protease of the papain family. (PubMed id 10653162)1, 2, 9 Pungercar J. and Ivanovski G. (2000)
  4. Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis. (PubMed id 18420963)1, 4, 9 Cooke G.S....Hill A.V. (2008)
  5. Tissue expression and immunolocalization of a novel human cathepsin P. (PubMed id 10653163)1, 2, 9 Pungercar J.... Krizaj I. (2000)
  6. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (2008)
  7. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (2007)
  8. 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)
  9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  10. Crystal structure of cathepsin X: a flip-flop of the ring of His23 allows carboxy-monopeptidase and carboxy-dipeptidase activity of the protease. (PubMed id 10745011)1, 2 Guncar G.... Turk D. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1522 HGNC: 2547 AceView: CTSZ Ensembl:ENSG00000101160 euGenes: HUgn1522
ECgene: CTSZ Kegg: 1522 H-InvDB: CTSZ

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CTSZ Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CTSZ Genetics and Cytogenetics in Oncology and Haematology

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

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



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