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CTSD Gene

protein-coding   GIFtS: 76
GCID: GC11M001773

Cathepsin D

(Previous name: cathepsin D (lysosomal aspartyl protease))
(Previous symbol: CPSD)
  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)
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Aliases
Cathepsin D1 2     HEL-S-130P2
CPSD1 2 3 5     Ceroid-Lipofuscinosis, Neuronal 102
EC 3.4.23.53 8     Epididymis Secretory Sperm Binding Protein Li 130P2
CLN102 5     Lysosomal Aspartyl Peptidase2
Cathepsin D (Lysosomal Aspartyl Protease)1     Lysosomal Aspartyl Protease2
ceroid-lipofuscinosis1     EC 3.4.238
Neuronal 101     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 congenital neuronal ceroid lipofuscinosis, and rosai-dorfman disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   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 Chromatin IP Primers for CTSD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • N- and O-glycosylated1
  • Ubiquitination2 at Lys28, Lys54, Lys184, Lys348
  • Glycosylation2 at Thr63, Asn134, Asn263
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTSD (P07339) (see all 15)
     NNRVGFA  CLSGFMG  VVFDTGS  WILGDVF 


    See CTSD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001900.1  
    ENSEMBL proteins: 
     ENSP00000236671   ENSP00000404902   ENSP00000402586   ENSP00000415036   ENSP00000356164  
    Reactome Protein details: P07339

    CTSD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CTSD (Cathepsin D)
    Enzo Life Sciences proteins for CTSD
    OriGene Purified Protein for CTSD
    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

    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
    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

    CTSD Assay Products:

    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?src=genec 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)
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    HGNC Gene Families:
    CTS: Cathepsins

    4 InterPro protein domains:
     IPR021109 Peptidase_aspartic_dom
     IPR001969 Aspartic_peptidase_AS
     IPR012848 Aspartic_peptidase_N
     IPR001461 Aspartic_peptidase

    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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 2 alleles(MGI details for Ctsd):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     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: Let us create your new Knockout/Knockin mouse model for CTSD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target CTSD:
    hsa-mir-484 (MIRT042362), hsa-mir-503-5p (MIRT041114), hsa-mir-339-5p (MIRT042779), hsa-mir-335-5p (MIRT018513), hsa-mir-26b-5p (MIRT029858), hsa-mir-16-5p (MIRT051277)

    Block miRNA regulation of human, mouse, rat CTSD using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CTSD
    SwitchGear 3'UTR luciferase reporter plasmidCTSD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CTSD
    Predesigned siRNA for gene silencing in human, mouse, rat CTSD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTSD

    Clone
    Products:
         
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CTSD
    Browse ESI BIO Cell Lines and PureStem Progenitors for CTSD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSD


    (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
    CATD_HUMAN, P07339: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome5
    vacuole5
    cytosol3
    endosome3
    cytoskeleton2
    endoplasmic reticulum2
    golgi apparatus2
    mitochondrion2
    nucleus2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    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


    (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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    SuperPaths for CTSD About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide hormone metabolism
    Peptide hormone metabolism0.30
    thyroid hormone biosynthesis0.00
    Metabolism of Angiotensinogen to Angiotensins0.00
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    3Ceramide Pathway
    Ceramide Pathway0.32
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    4Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    5Prolactin Signaling Pathway
    Prolactin Signaling Pathway0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Downloadable PowerPoint Slides of GeneGlobe 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
    Direct p53 effectors
    LKB1 signaling events
    Ceramide signaling pathway
    thyroid hormone biosynthesis


    3 Reactome Pathways for CTSD
        Metabolism of Angiotensinogen to Angiotensins
    Collagen degradation
    MHC class II antigen presentation


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


    CTSD for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for CTSD

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

    Selected Interacting proteins for CTSD (P073391, 2, 3 ENSP000002366714) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 2, 3, ENSP000002849814EBI-2115097,EBI-77613 MINT-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
    MTG1Q9BT173, ENSP000003230474I2D: score=5 STRING: ENSP00000323047
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IEA--
    GO:0006508proteolysis ----
    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, 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 Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for CTSD
      Browse compounds at ApexBio 

    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

    Selected 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)



    CTSD for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    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
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    Block miRNA regulation of human, mouse, rat CTSD using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CTSD
    SwitchGear 3'UTR luciferase reporter plasmidCTSD 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CTSD
    Predesigned 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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CTSD
    OriGene qSTAR qPCR primer pairs in human, mouse for CTSD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTSD
      QuantiTect SYBR Green Assays in human, mouse, rat CTSD
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1563):

    BE277237 BE905686 BP348019 BQ686925 BX380651 CD674984 BM981566 BM043715 
    BX334354 BM821219 BG035574 BQ961939 BQ051310 BU542022 BU501886 BQ949009 
    R87623 BU541641 BU178226 BQ226369 BU857355 CB118702 CD515328 BG287247 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    CTSD expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    CTSD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTSD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654447

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTSD: 
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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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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTSD gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsd1 , 5 cathepsin D1, 5 81.19(n)1
    84.28(a)1
      7 (87.93 cM)5
    130331  NM_009983.21  NP_034113.11 
     1423711485 
    chicken
    (Gallus gallus)
    Aves CTSD1 cathepsin D 72.53(n)
    71.2(a)
      396090  NM_205177.1  NP_990508.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTSD6
    cathepsin D
    64(a)
    1 ↔ 1
    1(70860243-70895741)
    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
    cathD1
    53(a)
    (best of 9)3
    61.9(n)1
    56.59(a)1
      43E183
    452681  NM_143756.21  NP_652013.11 
    worm
    (Caenorhabditis elegans)
    Secernentea asp-41 , 3 aspartyl protease3
    asp-41
    58(a)
    (best of 11)3
    58.78(n)1
    60.18(a)1
      X(13254300-13256652)3
    1814441  NM_077790.51  NP_510191.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEP4(YPL154C)4
    PEP41
    Vacuolar aspartyl protease (proteinase A), required more4
    PEP41
    51.19(n)1
    47.32(a)1
      16(260931-259714)4
    8559491, 4  NP_015171.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons APA11 APA1 56.26(n)
    53.15(a)
      837740  NM_101062.3  NP_172655.1 
    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)
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    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), 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CATD_HUMAN, P07339: 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


    Selected SNPs for CTSD (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
    Ceroid lipofuscinosis, neuronal, 10 (CLN10)4--see VAR_0293622 F I mis40--------
    VAR_0293634
    Ceroid lipofuscinosis, neuronal, 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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTSD
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 116840   
    OMIM disorders: 610127  
    UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
  • Ceroid lipofuscinosis, neuronal, 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

  • Selected diseases for CTSD (see all 132):    
    About MalaCards
    congenital neuronal ceroid lipofuscinosis    rosai-dorfman disease    microglandular adenosis    breast disease
    ceroid lipofuscinosis neuronal 10    breast cyst    colonic disease    laryngitis
    peptic ulcer    alexia    hereditary cerebral hemorrhage with amyloidosis    laryngeal carcinoma
    variant creutzfeldt-jakob disease    neuronal ceroid-lipofuscinoses    atypical teratoid rhabdoid tumor    laryngeal squamous cell carcinoma
    langerhans-cell histiocytosis    neuronal ceroid lipofuscinosis    batten disease    desmoid tumor

    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

    Selected 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)
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    PubMed articles for CTSD gene, integrated from 10 sources (see all 1191):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Genes Brain Behav. 2006)
    3. Cathepsin D deficiency is associated with a human neurodegenerative disorder. (PubMed id 16685649)1, 2, 9 Steinfeld R.... Gartner J. (Am. J. Hum. Genet. 2006)
    4. Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease. (PubMed id 19571726)1, 4, 9 Kovacs G.G....Budka H. (Alzheimer Dis Assoc Disord 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. (Dement Geriatr Cogn Disord 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. (Ann. Neurol. 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. (EMBO J. 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. (Am. J. Epidemiol. 2004)
    9. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. (PubMed id 12147324)1, 4, 9 Bagnoli S....Sorbi S. (Neurosci. Lett. 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. (Am. J. Med. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1509 HGNC: 2529 AceView: CTSD Ensembl:ENSG00000117984 euGenes: HUgn1509
    ECgene: CTSD Kegg: 1509 H-InvDB: CTSD

    (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 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.)
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    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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