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

CTSH Gene

protein-coding   GIFtS: 68
GCID: GC15M079213

Cathepsin H


(Previous symbol: CPSB)
  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 H1 2     Cathepsin BA2
CPSB1 2 3     minichain2
ACC-42     N-Benzoylarginine-Beta-Naphthylamide Hydrolase2
ACC-52     Pro-Cathepsin H2
aleurain2     EC 3.4.228
Cathepsin B32     EC 3.4.22.168

External Ids:    HGNC: 25351   Entrez Gene: 15122   Ensembl: ENSG000001038117   OMIM: 1168205   UniProtKB: P096683   

Export aliases for CTSH gene to outside databases

Previous GC identifers: GC15P075196 GC15M072371 GC15M076790 GC15M076929 GC15M077001 GC15M055974


(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 CTSH Gene:
The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of
lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a
single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as
an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant
progression of prostate tumors. (provided by RefSeq, Mar 2010)

GeneCards Summary for CTSH Gene: 
CTSH (cathepsin H) is a protein-coding gene. Diseases associated with CTSH include thyroid crisis, and middle ear cholesteatoma, and among its related super-pathways are Immune System and Kinesins. GO annotations related to this gene include cysteine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is TINAG.

UniProtKB/Swiss-Prot: CATH_HUMAN, P09668
Function: Important for the overall degradation of proteins in lysosomes

Gene Wiki entry for CTSH (Cathepsin H) 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTSH gene promoter:
         Max1   PPAR-gamma1   Pax-5   AML1a   HFH-1   ARP-1   PPAR-gamma2   NF-E2   NF-E2 p45   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTSH promoter sequence
   Search SABiosciences Chromatin IP Primers for CTSH

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


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

Entrez Gene cytogenetic band: 15q25.1   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q25.1

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M079213:  view genomic region     (about GC identifiers)

Start:
79,213,400 bp from pter      End:
79,241,916 bp from pter
Size:
28,517 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: CATH_HUMAN, P09668 (See protein sequence)
Recommended Name: Pro-cathepsin H precursor  
Size: 335 amino acids; 37394 Da
Subunit: Composed of a mini chain and a large chain. The large chain may be split into heavy and light chain. All
chains are held together by disulfide bonds
Subcellular location: Lysosome
1 PDB 3D structure from and Proteopedia for CTSH:
1BZN (3D)    
Secondary accessions: B2RBK0 Q96NY6 Q9BUM7

Explore the universe of human proteins at neXtProt for CTSH: NX_P09668

Explore proteomics data for CTSH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09668

  • 4/9 DME Specific Peptides for CTSH (P09668) (see all 9)
     EQQLVDC  NQFSDMS  VLAVGYG  FSTTGALE 

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

    CTSH Protein Expression
    REFSEQ proteins: NP_004381.2  
    ENSEMBL proteins: 
     ENSP00000220166   ENSP00000432935   ENSP00000431879   ENSP00000432893   ENSP00000435329  
    Reactome Protein details: P09668
    Human Recombinant Protein Products for CTSH: 
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    Sino Biological Recombinant Protein for CTSH
    Sino Biological Cell Lysate for CTSH 
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    Cloud-Clone Corp. Proteins for CTSH 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001520outer dense fiber IEA--
    GO:0001669acrosomal vesicle IEA--
    GO:0005615extracellular space IDA18216060
    GO:0005764lysosome IDA15196205
    GO:0005829cytosol IDA9050938

    CTSH for ontologies           About GeneDecksing



    CTSH Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CTSH


    (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

    5/6 InterPro protein domains (see all 6):
     IPR013128 Peptidase_C1A
     IPR025661 Pept_asp_AS
     IPR000169 Pept_cys_AS
     IPR013201 Prot_inhib_I29
     IPR025660 Pept_his_AS

    Graphical View of Domain Structure for InterPro Entry P09668

    ProtoNet protein and cluster: P09668

    2 Blocks protein domains:
    IPB000668 Papain cysteine protease (C1) family signature
    IPB013201 Proteinase inhibitor I29


    UniProtKB/Swiss-Prot: CATH_HUMAN, P09668
    Similarity: Belongs to the peptidase C1 family


    CTSH 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: CATH_HUMAN, P09668
    Function: Important for the overall degradation of proteins in lysosomes
    Catalytic activity: Hydrolysis of proteins, acting as an aminopeptidase (notably, cleaving Arg- -Xaa bonds) as
    well as an endopeptidase

         Genatlas biochemistry entry for CTSH:
    cathepsin H,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed,involved in matrix degradation
    during endochondral ossification

         Enzyme Numbers (IUBMB): EC 3.4.22.162 EC 3.4.222

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IDA14766755
    GO:0004177aminopeptidase activity IDA15127951
    GO:0004197cysteine-type endopeptidase activity TAS2849458
    GO:0004252serine-type endopeptidase activity ISS--
    GO:0005515protein binding IPI15127951
         
    CTSH for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CTSH:
     G0/1 arrest  Increased G1 DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ctsh):
     growth/size  normal  reproductive system  respiratory system 

    CTSH for phenotypes           About GeneDecksing

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTSH 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CTSH:
    hsa-miR-138
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    Inhib. RNA
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    (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 CTSH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Immune System
    Immune System0.56
    Adaptive Immune System0.56
    2MHC class II antigen presentation
    MHC class II antigen presentation0.32
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for CTSH
        Adaptive Immune System
    Immune System
    MHC class II antigen presentation


    1         Kegg Pathway  (Kegg details for CTSH):
        Lysosome


    CTSH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTSH

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CTSH (P096683 ENSP000002201664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSTBP040803, ENSP000002915684I2D: score=3 STRING: ENSP00000291568
    CSTAP010403, ENSP000002644744I2D: score=4 STRING: ENSP00000264474
    SFTPBP079883, ENSP000003451614I2D: score=1 STRING: ENSP00000345161
    BGLAPP028183, ENSP000003572554I2D: score=2 STRING: ENSP00000357255
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development ISS--
    GO:0001913T cell mediated cytotoxicity ISS--
    GO:0002250adaptive immune response IEP15196205
    GO:0002764immune response-regulating signaling pathway IDA16822283
    GO:0006508proteolysis TAS2849458

    CTSH 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

    CTSH for compounds           About GeneDecksing

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

    Browse Tocris compounds for CTSH (CATH)

    4 DrugBank Compounds for CTSH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Para-Toluene Sulfonate-- --target--17139284 17016423 10592235
    CARBOBENZYLOXY-(L)-LEUCINYL-(L)LEUCINYL METHOXYMETHYLKETONE-- --target--10592235
    N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-2-Methyl-Butane-- --target--10592235
    N1-(1-Dimethylcarbamoyl-2-Phenyl-Ethyl)-2-Oxo-N4-(2-Pyridin-2-Yl-Ethyl)-Succinamide-- --target--10592235

    4 Novoseek inferred chemical compound relationships for CTSH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 77.8 23 10919356 (3), 1885617 (2), 2270764 (1), 9744102 (1) (see all 16)
    actinidin 69.7 3 1885617 (1), 9165064 (1)
    serine 12.5 1 8399390 (1)
    methionine 0 2 10919356 (2)

    Search CenterWatch for drugs/clinical trials and news about CTSH / CATH

    (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 CTSH gene (2 alternative transcripts): 
    NM_004390.3  NM_148979.2  

    Unigene Cluster for CTSH:

    Cathepsin H
    Hs.148641  [show with all ESTs]
    Unigene Representative Sequence: CR749582
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000220166(uc021srk.1) ENST00000527715 ENST00000525807 ENST00000533777(uc010unf.1)
    ENST00000534237 ENST00000534533 ENST00000527138 ENST00000529612 ENST00000529861
    ENST00000528741 ENST00000529263 ENST00000528191 ENST00000534038 ENST00000530010(uc010ung.1)
    ENST00000530929 ENST00000534268 ENST00000528436
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSH
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CTSH:
    hsa-miR-138
    SwitchGear 3'UTR luciferase reporter plasmidCTSH 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: CTSH (NM_004390)
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    Additional mRNA sequence: 

    AF426247.1 AF426248.1 AK130158.1 AK295583.1 AK309491.1 AK314698.1 AL110099.1 BC002479.2 
    BC018821.2 CR456881.1 CR749582.1 X07549.1 X16832.1 Y18461.1 

    21 DOTS entries:

    DT.452911  DT.100821819  DT.92062447  DT.86839615  DT.91770683  DT.91770697  DT.97859654  DT.100821815 
    DT.100821821  DT.101959016  DT.121037939  DT.95368894  DT.97791056  DT.100821817  DT.121037903  DT.91770692 
    DT.91905867  DT.95368890  DT.432405  DT.91910631  DT.92413289 

    24/397 AceView cDNA sequences (see all 397):

    CR613401 BM761097 BF874864 BM849425 CR749582 AA582752 AI827327 CB268594 
    BM762741 BU162921 AI123813 N89602 BM844587 CB107518 T62994 BM924355 
    AA768026 AA702108 BM844824 BQ067582 BE349596 BM668110 AI057198 BE350901 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CTSH (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13
    SP1:        -                 -                 -           -                       -     -                           
    SP2:                          -                 -           -                                                         
    SP3:                                            -           -                                                         
    SP4:                                            -                                                                     
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for CTSH

    (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

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


    CTSH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
             lung ; macrophages   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             bronchus ; respiratory epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.148641
        SABiosciences Custom PCR Arrays for CTSH
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSH

    (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 CTSH gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctsh1 , 5 cathepsin H1, 5 82.98(n)1
    83.48(a)1
      9 (47.40 cM)5
    130361  NM_007801.21  NP_031827.21 
     900541525 
    chicken
    (Gallus gallus)
    Aves CTSH1 cathepsin H 71.75(n)
    73.52(a)
      770109  XM_001232764.2  XP_001232765.2 
    lizard
    (Anolis carolinensis)
    Reptilia CTSH6
    --
    Uncharacterized protein
    68(a)
    21(a)
    1 ↔ 1
    possible ortholog
    GL343835.1(64640-77898)
    GL343464.1(679650-701767)
    zebrafish
    (Danio rerio)
    Actinopterygii wufc44c022 Transcribed sequence with weak similarity to protein more 75.34(n)    57049875 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG48473 cathepsin K 38(a)
    (best of 2)
      54C1   --
    worm
    (Caenorhabditis elegans)
    Secernentea R09F10.13 peptidase 35(a)
    (best of 3)
      X(8358887-8360238)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G453101 thiol protease aleurain-like protein 54.8(n)
    53.9(a)
      823669  NM_114400.3  NP_566880.1 
    rice
    (Oryza sativa)
    Liliopsida Os.78602 Oryza sativa (japonica cultivar-group) mRNA for oryzain more 73.98(n)    AK066748.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTSH gene
    TINAG2  CTSF2  CTSO2  CTSW2  CTSK2  CTSV2  CTSB2  CTSS2  
    CTSC2  TINAGL12  CTSZ2  CTSL2  
    9 SIMAP similar genes for CTSH using alignment to 5 protein entries:     CATH_HUMAN (see all proteins):
    DKFZp686B24257    CTSL    CTSL2    CTSK    CTSL1    CTSF
    CTSS    CTSO    CTSW

    CTSH 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

    10/750 SNPs in CTSH are shown (see all 750)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364784
    A colorectal cancer sample4--see VAR_0364782 G R mis40--------
    rs31291,2
    C,F,A,Huntested155974128(+) ATATTC/G/TGTGGT 1 -- ut31 ese331MN NA NS EA WA CSA 3129
    rs734703831,2
    C,F--55973509(+) GAGCCC/TGGAGG 1 -- ds50014Minor allele frequency- T:0.21WA CSA EA 242
    rs797082851,2
    F--55973523(+) CAGGAA/GGCAGC 1 -- ds50010--------
    rs749833381,2
    C--55973543(+) ATGGCC/TGCCCT 1 -- ds50012Minor allele frequency- T:0.09NA 122
    rs1479013401,2
    --55973625(+) GGGCAC/TGTTTG 1 -- ds50010--------
    rs1418038761,2
    C--55974012(+) AGGACC/TAGCAT 1 -- ut310--------
    rs1470896581,2
    --55974028(+) ATCTGA/GGGAGG 1 -- ut310--------
    rs49870571,2
    C,F,H--55974067(-) YTTTTC/TTGTAT 1 -- ut319Minor allele frequency- T:0.01MN NS WA 1052
    rs10501861,2
    C,H--55974072(-) ACTGTC/TTTTTY 1 -- ut318Minor allele frequency- T:0.00MN NS NA 714

    HapMap Linkage Disequilibrium report for CTSH (79213400 - 79241916 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CTSH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1629CNV Insertion18451855
    esv33573CNV Gain+Loss17666407

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CTSH

    (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: 116820    OMIM disorders: --

    20/38 diseases for CTSH (see all 38):    About MalaCards
    thyroid crisis    middle ear cholesteatoma    cutaneous malignant melanoma    cholesteatoma
    interstitial lung disease    duchenne muscular dystrophy    abdominal aortic aneurysm    cytomegalovirus infection
    laryngeal carcinoma    neurologic diseases    aortic aneurysm    polycystic kidney disease
    periodontal disease    prostatitis    kidney disease    sjogren's syndrome
    celiac disease    periodontitis    basal cell carcinoma    laryngitis

    1 disease from the University of Copenhagen DISEASES database for CTSH:
    Thyroid crisis

    CTSH for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for CTSH gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lung tumor 11.3 3 15645424 (2)
    inflammation 7.02 2 19404922 (1)
    glioblastoma 5.41 1 8640738 (1)
    breast cancer 0 1 1316176 (1)
    arthritis 0 1 2329322 (1)
    rheumatoid arthritis 0 1 2329322 (1)
    colorectal cancer 0 3 10755408 (3)
    tumors 0 12 11796715 (2), 14767779 (2), 8686249 (2), 8014475 (1) (see all 8)
    carcinoma 0 3 8839984 (1), 11796715 (1), 10755408 (1)
    melanoma 0 2 16307652 (1)

    Genetic Association Database (GAD): CTSH
    Human Genome Epidemiology (HuGE) Navigator: CTSH (14 documents)

    Export disorders for CTSH 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 CTSH gene, integrated from 9 sources (see all 170):
    (articles sorted by number of sources associating them with CTSH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and sequencing of a cDNA coding for mature human kidney cathepsin H. (PubMed id 2849458)1, 2, 3 Fuchs R.... Gassen H.G. (1988)
    2. Analysis of a truncated form of cathepsin H in human prostate tumor cells. (PubMed id 11796715)1, 2, 9 Waghray A.... Chen Y.Q. (2002)
    3. Genome-wide association study on bipolar disorder in t he Bulgarian population. (PubMed id 21771265)1, 4 Yosifova A....Nakamura Y. (2011)
    4. Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis. (PubMed id 20647273)1, 4 Hinks A....Thomson W. (2010)
    5. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Genetic susceptibility to type 2 diabetes is associat ed with reduced prostate cancer risk. (PubMed id 20203524)1, 4 Pierce B.L. and Ahsan H. (2010)
    8. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    9. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    10. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PubMed id 19430480)1, 4 Barrett J.C....Rich S.S. (2009)

    (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: 1512 HGNC: 2535 AceView: CTSH Ensembl:ENSG00000103811 euGenes: HUgn1512
    ECgene: CTSH Kegg: 1512 H-InvDB: CTSH

    (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 CTSH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTSH Genetics and Cytogenetics in Oncology and Haematology

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

    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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