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

CTSD Gene

protein-coding   GIFtS: 75
GCID: GC11M001773

Cathepsin D

(Previous name: cathepsin D (lysosomal aspartyl protease))
(Previous symbol: CPSD)
Alzheimer's & Parkinson's Diseases Congress
  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 D1 2     Neuronal 101
CPSD1 2 3 5     Ceroid-Lipofuscinosis, Neuronal 102
EC 3.4.23.53 8     Lysosomal Aspartyl Peptidase2
CLN102 5     Lysosomal Aspartyl Protease2
Cathepsin D (Lysosomal Aspartyl Protease)1     EC 3.4.238
ceroid-lipofuscinosis1     

External Ids:    HGNC: 25291   Entrez Gene: 15092   Ensembl: ENSG000001179847   OMIM: 1168405   UniProtKB: P073393   

Export aliases for CTSD gene to outside databases

Previous GC identifers: GC11M001414 GC11M001847 GC11M001714 GC11M001738 GC11M001730 GC11M001768 GC11M001564


(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 CTSD Gene:
This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains,
both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has
a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several
sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are
involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CTSD Gene: 
CTSD (cathepsin D) is a protein-coding gene. Diseases associated with CTSD include breast disease, and rosai-dorfman disease, and among its related super-pathways are Degradation of the extracellular matrix and Immune System. GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is BACE1.

UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several
diseases such as breast cancer and possibly Alzheimer disease

Gene Wiki entry for CTSD (Cathepsin D) 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_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTSD gene promoter:
         c-Fos   PPAR-gamma1   AP-1   ATF-2   Egr-1   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSD promoter sequence
   Search SABiosciences Chromatin IP Primers for CTSD

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


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M001773:  view genomic region     (about GC identifiers)

Start:
1,773,982 bp from pter      End:
1,785,222 bp from pter
Size:
11,241 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: CATD_HUMAN, P07339 (See protein sequence)
Recommended Name: Cathepsin D precursor  
Size: 412 amino acids; 44552 Da
Subunit: Consists of a light chain and a heavy chain
Subcellular location: Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in
melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely
bound to the matrix (PubMed:20551380)
3 PDB 3D structures from and Proteopedia for CTSD:
1LYA (3D)        1LYB (3D)        1LYW (3D)    
Secondary accessions: Q6IB57

Explore the universe of human proteins at neXtProt for CTSD: NX_P07339

Explore proteomics data for CTSD at MOPED 

Post-translational modifications:

  • UniProtKB: N- and O-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07339

  • 4/15 DME Specific Peptides for CTSD (P07339) (see all 15)
     NNRVGFA  CLSGFMG  VVFDTGS  WILGDVF 

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

    CTSD Protein Expression
    REFSEQ proteins: NP_001900.1  
    ENSEMBL proteins: 
     ENSP00000236671   ENSP00000404902   ENSP00000402586   ENSP00000415036   ENSP00000356164  
    Reactome Protein details: P07339
    Human Recombinant Protein Products for CTSD: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CTSD (Cathepsin D)
    Enzo Life Sciences proteins for CTSD
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CTSD
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CTSD
    GenScript Custom Purified and Recombinant Proteins Services for CTSD
    Novus Biologicals CTSD Proteins
    Novus Biologicals CTSD Lysates
    Sino Biological Recombinant Protein for CTSD
    Sino Biological Cell Lysate for CTSD 
    ProSpec Recombinant Protein for CTSD
    Cloud-Clone Corp. Proteins for CTSD 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome IDA1837142
    GO:0031012colocalizes with extracellular matrix IDA--

    CTSD for ontologies           About GeneDecksing



    CTSD Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CTSD
    R&D Systems Antibodies for CTSD (Cathepsin D)
    Cell Signaling Technology (CST) Antibodies for CTSD 
    OriGene Antibodies for CTSD
    OriGene Custom Antibody Services for CTSD
    GenScript Custom Superior Antibodies Services for CTSD
    Novus Biologicals CTSD Antibodies
    Abcam antibodies for CTSD
    Cloud-Clone Corp. Antibodies for CTSD 
    ThermoFisher Antibodies for CTSD
    LSBio Antibodies in human, mouse, rat for CTSD 

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


    (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

    4 InterPro protein domains:
     IPR021109 Peptidase_aspartic
     IPR001969 Peptidase_aspartic_AS
     IPR012848 Propep_A1
     IPR001461 Peptidase_A1

    Graphical View of Domain Structure for InterPro Entry P07339

    ProtoNet protein and cluster: P07339

    1 Blocks protein domain: IPB001461 Pepsin (A1) aspartic protease family signature

    UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
    Similarity: Belongs to the peptidase A1 family


    CTSD 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: CATD_HUMAN, P07339
    Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several
    diseases such as breast cancer and possibly Alzheimer disease
    Catalytic activity: Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln- -His-5
    bond in B chain of insulin

         Genatlas biochemistry entry for CTSD:
    cathepsin D,major retinal pigment epithelial aspartic proteinase,lysosomal,cleaving procaspase 3,ubiquitously
    expressed,involved in epidermal differentiation and major factor in the proteolysis of opsin,potentially
    recruited during apoptosis,bound to ceramide for proteolytic activity,at most a mild risk factor for sporadic
    Alzheimer's disease,not decreased in age related maculopathy

         Enzyme Numbers (IUBMB): EC 3.4.23.51 2 EC 3.4.232

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004190aspartic-type endopeptidase activity IEA--
    GO:0005515protein binding IPI17112520
    GO:0008233peptidase activity ----
         
    CTSD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CTSD:
     Decreased focal adhesion (FA)  

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ctsd):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     vision/eye 

    CTSD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ctsdtm1Cptr for CTSD

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CTSD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CTSD

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

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

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CTSD (see all 7)
    OriGene ORF clones in mouse, rat for CTSD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CTSD (NM_001909)
    Sino Biological Human cDNA Clone for CTSD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSD
    Sirion Biotech Customized lentivirus for stable overexpression of CTSD 
                         Customized lentivirus expression plasmids for stable overexpression of CTSD 

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSD


    (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 CTSD About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Degradation of collagen0.79
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3TNF-Induced Apoptosis Implicating Sphingolipids
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    Ceramide Pathway0.32
    4Renin-angiotensin system
    Metabolism of Angiotensinogen to Angiotensins0.43
    5Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for CTSD
        Selected targets of ESR1
    Selected targets of p53

    1 R&D Systems Pathway for CTSD
        A-beta Plaque Formation & APP Metabolism

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CTSD
        Ceramide Pathway
    TNF-Induced Apoptosis Implicating Sphingolipids

    2 Cell Signaling Technology (CST) Pathways for CTSD
        Apoptosis and Autophagy
    Protein Stability

    5 BioSystems Pathways for CTSD
        Prolactin Signaling Pathway
    Ceramide signaling pathway
    Direct p53 effectors
    LKB1 signaling events
    thyroid hormone biosynthesis


    5/9        Reactome Pathways for CTSD (see all 9)
        Adaptive Immune System
    Degradation of collagen
    Metabolism of Angiotensinogen to Angiotensins
    Extracellular matrix organization
    Metabolism of proteins


    2         Kegg Pathways  (Kegg details for CTSD):
        Lysosome
    Tuberculosis


    CTSD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTSD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/72 Interacting proteins for CTSD (P073392, 3 ENSP000002366714) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050672, 3, ENSP000002849814MINT-3974374 MINT-3974360 I2D: score=3 STRING: ENSP00000284981
    HBA2P699052, 3, ENSP000002515954MINT-3974347 I2D: score=1 STRING: ENSP00000251595
    HBA1P699052, 3MINT-3974347 I2D: score=1 
    MARCH9Q86YJ52, 3, ENSP000002666434MINT-4053134 I2D: score=1 STRING: ENSP00000266643
    PSAPP076023, ENSP000003783944I2D: score=3 STRING: ENSP00000378394
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IEA--
    GO:0006508proteolysis IEA--
    GO:0008219cell death IEA--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--
    GO:0022617extracellular matrix disassembly TAS--

    CTSD 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

    CTSD for compounds           About GeneDecksing

    EMD Millipore small molecules for CTSD:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for CTSD

    Browse Tocris compounds for CTSD (CATD)

    8 DrugBank Compounds for CTSD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--10229502 17016423 17139284 9130467 11779865
    1h-Benoximidazole-2-Carboxylic Acid-- --target--17139284 17016423 10592235
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423 10592235
    N-Aminoethylmorpholine-- --target--17139284 17016423 10592235
    S-Methylcysteine-- 1187-84-4target--17139284 17016423 10592235
    Insulin Regular -- 11061-68-0target--17139284 17016423
    5-AMINO-6-CYCLOHEXYL-4-HYDROXY-2-ISOBUTYL-HEXANOIC ACID-- --target--10592235
    CYCLOHEXYLMETHYL-2,3-DIHYDROXY-5-METHYL-HEXYLAMIDE-- --target--10592235

    10/109 Novoseek inferred chemical compound relationships for CTSD gene (see all 109)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 85.5 40 12296771 (3), 18174267 (3), 1848227 (2), 8134116 (1) (see all 31)
    estrogen 72.9 206 9230283 (7), 2295049 (4), 1633322 (3), 11062111 (3) (see all 99)
    progesterone 70.7 161 7906196 (4), 9238685 (4), 11062111 (3), 7915829 (3) (see all 99)
    statine 67.1 2 10423175 (2)
    3-(2,4-dinitroanilino)-3'-amino-n-methyldipropylamine 53.8 1 9278305 (1)
    4-hydroxytamoxifen 51.1 2 8344199 (2)
    cysteine 50.9 30 12617392 (2), 2403372 (1), 7575468 (1), 8817669 (1) (see all 27)
    naphthazarin 50.7 2 10641715 (2)
    leupeptin 48.3 2 1906526 (1), 10334387 (1)
    nh4cl 43.7 5 1531012 (1), 15532026 (1), 9560473 (1), 2167847 (1)

    Search CenterWatch for drugs/clinical trials and news about CTSD / CATD

    (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 CTSD gene: 
    NM_001909.4  

    Unigene Cluster for CTSD:

    Cathepsin D
    Hs.654447  [show with all ESTs]
    Unigene Representative Sequence: NM_001909
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000236671(uc001luc.2) ENST00000433655 ENST00000429746 ENST00000497544
    ENST00000438213 ENST00000367196

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSD
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CTSD
    SwitchGear 3'UTR luciferase reporter plasmidCTSD 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for CTSD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSD
    Clone
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    OriGene clones in human, mouse for CTSD (see all 7)
    OriGene ORF clones in mouse, rat for CTSD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CTSD (NM_001909)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSD
    Sirion Biotech Customized lentivirus for stable overexpression of CTSD 
                         Customized lentivirus expression plasmids for stable overexpression of CTSD 
    Primer
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    OriGene qPCR primer pairs and template standards for CTSD
    OriGene qSTAR qPCR primer pairs in human, mouse for CTSD
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CTSD
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSD

    Additional mRNA sequence: 

    AK130178.1 BC001574.1 BC016320.2 BT006910.1 BT020155.1 CR456947.1 M11233.1 X05344.1 

    24/42 DOTS entries (see all 42):

    DT.450575  DT.95090842  DT.97806869  DT.100889534  DT.100889548  DT.100889543  DT.100889540  DT.95231629 
    DT.95231802  DT.100889514  DT.100039640  DT.92469315  DT.100889517  DT.100889520  DT.120699379  DT.95231735 
    DT.120699376  DT.100889528  DT.95120527  DT.75144118  DT.95231725  DT.121630069  DT.91746087  DT.92469330 

    24/1563 AceView cDNA sequences (see all 1563):

    BM928319 AW068103 BM740272 CB321998 BU178226 CA440055 BQ683495 BU174190 
    BE384083 BQ688270 CR623521 BM762425 BM704855 BM832917 BQ723385 BQ683775 
    BQ688541 AU141949 BX114238 BX476363 CR612133 BU184714 NM_001909 BE905686 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CTSD (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b
    SP1:                    -     -                                                     -                 -           -                     
    SP2:                    -     -           -                                                                                             
    SP3:                    -     -                 -                                                                                       
    SP4:                                                                                                              -                     
    SP5:                                                                                                  -                                 


    ECgene alternative splicing isoforms for CTSD

    (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

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


    CTSD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Epithelium
             nasopharynx ; respiratory epithelial cells   
             bronchial epithelia   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.654447

    UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
    Tissue specificity: Expressed in the aorta extrcellular space (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including CTSD: 
              Estrogen Receptor Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Breast Cancer in human mouse rat
              Autophagy in human mouse rat
              Alzheimer's Disease in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTSD gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsd1 , 5 cathepsin D1, 5 80.44(n)1
    81.91(a)1
      7 (87.93 cM)5
    130331  NM_009983.21  NP_034113.11 
     1423711485 
    chicken
    (Gallus gallus)
    Aves CTSD1 cathepsin D 71.72(n)
    69.95(a)
      396090  NM_205177.1  NP_990508.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTSD6
    --
    Uncharacterized protein
    64(a)
    47(a)
    1 ↔ 1
    possible ortholog
    1(70860243-70895741)
    GL343287.1(260983-282680)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985572 cathepsin D 74.67(n)    AB103479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ctsd2 cathepsin D 76.91(n)   65225  AJ278268.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cathD1 , 3 cathepsin D3
    CG1548-PA1
    53(a)
    (best of 9)3
    60.95(n)1
    55.84(a)1
      43E183
    452681  NM_143756.21  NP_652013.11 
    worm
    (Caenorhabditis elegans)
    Secernentea asp-41 , 3 aspartyl protease3
    Protein ASP-41
    58(a)
    (best of 11)3
    58.78(n)1
    60.18(a)1
      X(13254300-13256652)3
    1814441  NM_077790.41  NP_510191.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEP4(YPL154C)4
    PEP41
    Vacuolar aspartyl protease (proteinase A), required more4
    Pep4p1
    49.18(n)1
    43.67(a)1
      16(260931-259714)4
    8559491, 4  NP_015171.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G044601 phytepsin 54.63(n)
    50.45(a)
      825776  NM_116684.3  NP_192355.1 
    rice
    (Oryza sativa)
    Liliopsida Os.82982 Rice mRNA for aspartic protease, complete cds 75.34(n)    AK066453.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTSD gene
    BACE12  PGA32  BACE22  NAPSA2  CTSE2  PGC2  PGA52  REN2  
    PGA42  
    8 SIMAP similar genes for CTSD using alignment to 5 protein entries:     CATD_HUMAN (see all proteins):
    DKFZp666J2410    CTSE    REN    PGA3    NAPSA    PGA5
    PGA4    PGC

    CTSD 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

    UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
    Polymorphism: The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with
    non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than
    non-carriers


    10/442 SNPs in CTSD are shown (see all 442)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0293624
    Neuronal ceroid lipofuscinosis 10 (CLN10)4--see VAR_0293622 F I mis40--------
    VAR_0293634
    Neuronal ceroid lipofuscinosis 10 (CLN10)4--see VAR_0293632 W C mis40--------
    rs1405217431,2
    --1708307(+) GCCCCC/GCCACG 1 -- ds50010--------
    rs1909782091,2
    --1708312(+) CCCACA/GCCACC 1 -- ds50010--------
    rs1497379251,2
    --1708409(+) CTGTTC/TGAGTG 1 -- ds50010--------
    rs743621651,2
    C,F--1708412(+) TTCGAG/ATGCCG 1 -- ds50012Minor allele frequency- A:0.05WA EA 238
    rs598484171,2
    C,F--1708434(+) CTGGGC/TCACCT 1 -- ds50013Minor allele frequency- T:0.03WA NA EA 358
    rs803548941,2
    C,F--1708558(+) CCGACC/TAGGCT 1 -- ds50011Minor allele frequency- T:0.02EA 120
    rs1817780631,2
    --1708588(+) GGGCAA/GGGCAG 1 -- ds50010--------
    rs1445894651,2
    --1708604(+) CATAGA/GCCCGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CTSD (1773982 - 1785222 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CTSD (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7642CNV Insertion18451855
    esv1293972CNV Insertion17803354
    nsv896736CNV Loss21882294
    nsv896735CNV Loss21882294
    nsv832049CNV Loss17160897
    nsv896732CNV Loss21882294
    nsv896733CNV Loss21882294
    nsv896731CNV Loss21882294
    nsv896734CNV Loss21882294
    nsv467645CNV Gain19166990


    Human Gene Mutation Database (HGMD): CTSD
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CTSD

    (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: 116840   
    OMIM disorders: 610127  
    UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
  • Neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with
    onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal
    storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and
    clinically by seizures, dementia, visual loss, and/or cerebral atrophy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/131 diseases for CTSD (see all 131):    About MalaCards
    breast disease    rosai-dorfman disease    microglandular adenosis    ceroid lipofuscinosis neuronal 10
    colonic disease    breast cyst    alexia    laryngitis
    peptic ulcer    variant creutzfeldt-jakob disease    laryngeal squamous cell carcinoma    laryngeal carcinoma
    neuronal ceroid-lipofuscinoses    hereditary cerebral hemorrhage with amyloidosis    atypical teratoid rhabdoid tumor    cerebral hemorrhage
    langerhans-cell histiocytosis    neuronal ceroid lipofuscinosis    male breast cancer    batten disease

    4 diseases from the University of Copenhagen DISEASES database for CTSD:
    Breast cancer     Neuronal ceroid lipofuscinosis     Alzheimer's disease     Carcinoma

    CTSD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 Novoseek inferred disease relationships for CTSD gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 79.1 424 8261461 (7), 9527695 (5), 8443752 (5), 8385566 (5) (see all 99)
    breast carcinoma 73.2 68 1332483 (3), 9701723 (3), 8410496 (3), 11753972 (3) (see all 46)
    metastasis 64 151 16033070 (6), 10562684 (5), 12140763 (4), 18433155 (4) (see all 97)
    carcinoma ductal 62.2 16 8816882 (2), 9683294 (2), 7906196 (1), 17996735 (1) (see all 13)
    tumors 61.5 430 1332483 (5), 8816882 (5), 9179261 (5), 8697388 (4) (see all 99)
    neuronal ceroid lipofuscinoses 57.2 6 18091563 (2), 17495518 (1), 16670177 (1), 15837574 (1)
    invasive ductal breast carcinoma 56.8 7 17908479 (2), 8291222 (1), 8225242 (1), 10503271 (1) (see all 6)
    carcinoma 54.1 67 16033070 (4), 16244588 (3), 7540754 (3), 11474252 (2) (see all 42)
    alzheimers disease 52 69 1795881 (3), 15003956 (3), 10218883 (2), 7649217 (2) (see all 46)
    ductal breast carcinoma 50.9 3 11940423 (1), 18254778 (1), 10610231 (1)

    GeneTests: CTSD
    GeneReviews: CTSD
    Genetic Association Database (GAD): CTSD
    Human Genome Epidemiology (HuGE) Navigator: CTSD (42 documents)
    Tumor Gene Database (TGDB): CTSD

    Export disorders for CTSD 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 CTSD gene, integrated from 9 sources (see all 1184):
    (articles sorted by number of sources associating them with CTSD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence analysis of cDNA for human cathepsin D. (PubMed id 3927292)1, 2, 3 Faust P.L.... Chirgwin J.M. (1985)
    2. Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population. (PubMed id 16417614)1, 4, 9 Payton A....Pendleton N. (2006)
    3. Cathepsin D deficiency is associated with a human neurodegenerative disorder. (PubMed id 16685649)1, 2, 9 Steinfeld R.... Gartner J. (2006)
    4. Cathepsin D (C224T) polymorphism in sporadic and gene tic Creutzfeldt-Jakob disease. (PubMed id 19571726)1, 4, 9 Kovacs G.G....Budka H. (2010)
    5. Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. (PubMed id 15211064)1, 4, 9 Li X.Q....Zhang J.W. (2004)
    6. No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease. (PubMed id 11198280)1, 4, 9 Bertram L....Tanzi R. (2001)
    7. Two crystal structures for cathepsin D: the lysosomal targeting signal and active site. (PubMed id 8467789)1, 2, 9 Metcalf P. and Fusek M. (1993)
    8. Meta-analysis of the association of the cathepsin D Ala224Val gene polymorphism with the risk of Alzheimer's disease: a HuGE gene-disease association review. (PubMed id 15003956)1, 4, 9 Ntais C....Ioannidis J.P. (2004)
    9. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. (PubMed id 12147324)1, 4, 9 Bagnoli S....Sorbi S. (2002)
    10. Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. (PubMed id 11304834)1, 4, 9 Menzer G....Finckh U. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 1509 HGNC: 2529 AceView: CTSD Ensembl:ENSG00000117984 euGenes: HUgn1509
    ECgene: CTSD Kegg: 1509 H-InvDB: CTSD

    (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 CTSD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTSD Genetics and Cytogenetics in Oncology and Haematology
    NCL CTSDhttp://www.ucl.ac.uk/ncl/catD.shtml

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

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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