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

CMA1 Gene

protein-coding   GIFtS: 67
GCID: GC14M024974

chymase 1, mast cell

 Explore 54 diseases affiliated with
CMA1 via our new
 Human Malady Compendium 
Biological research products
for CMA1
    

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

Aliases
Chymase 1, Mast Cell1 2     Chymase 1 Preproprotein Transcript E2
Mast Cell Protease I2 3     Chymase 1 Preproprotein Transcript I2
CYH2 3     Chymase, Heart2
EC 3.4.21.393 8     Chymase, Mast Cell2
MCT12     Alpha-Chymase1
Alpha-Chymase1     CYM3
Chymase1     EC 3.4.218

External Ids:    HGNC: 20971   Entrez Gene: 12152   Ensembl: ENSG000000920097   OMIM: 1189385   UniProtKB: P239463   

Export aliases for CMA1 gene to outside databases

Previous GC identifers: GC14M022347 GC14M018762 GC14M022964 GC14M024044 GC14M005089


(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 CMA1:
This gene product is a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast
cells and thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland
secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than
angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide
angiotensin II. Angiotensin II has been implicated in blood pressure control and in the pathogenesis of hypertension,
cardiac hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular disease therapies. This
gene maps to 14q11.2 in a cluster of genes encoding other proteases. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CMA1_HUMAN, P23946
Function: Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular
matrix degradation, and regulation of gland secretion

Gene Wiki entry for CMA1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CMA1 gene promoter:
         HOXA9   HOXA9B   ISGF-3   Spz1   RREB-1   Nkx2-2   C/EBPalpha   STAT3   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCMA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CMA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CMA1


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

CMA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMA1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024974:  view genomic region     (about GC identifiers)

Start:
24,974,559 bp from pter      End:
24,977,471 bp from pter
Size:
2,913 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: CMA1_HUMAN, P23946 (See protein sequence)
Recommended Name: Chymase precursor  
Size: 247 amino acids; 27325 Da
Subcellular location: Secreted. Cytoplasmic granule. Note=Mast cell granules
6/13 PDB 3D structures from and Proteopedia for CMA1 (see all 13):
1KLT (3D)        1NN6 (3D)        1PJP (3D)        1T31 (3D)        2HVX (3D)        3N7O (3D)    
Secondary accessions: B5BUM8 Q16018 Q3SY36 Q9UDH5

Explore the universe of human proteins at neXtProt for CMA1: NX_P23946

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23946

  • 4/13 DME Specific Peptides for CMA1 (P23946) (see all 13)
     QLCVGNP  PPGRMCR  DIMLLKL  GDSGGPL 

    CMA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001827.1  
    ENSEMBL proteins: 
     ENSP00000250378   ENSP00000206446  
    Reactome Protein details: P23946
    Human Recombinant Protein Products: 
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    Uscn Proteins for CMA1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005622intracellular IEA--
    GO:0031012colocalizes with extracellular matrix IDA--


    CMA1 for ontologies           About GeneDecksing



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

    CMA1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P23946

    ProtoNet protein and cluster: P23946

    2 Blocks protein families:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: CMA1_HUMAN, P23946
    Similarity: Belongs to the peptidase S1 family. Granzyme subfamily
    Similarity: Contains 1 peptidase S1 domain


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

    Function Summary:

         UniProtKB/Swiss-Prot: CMA1_HUMAN, P23946
    Function: Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular
    matrix degradation, and regulation of gland secretion
    Catalytic activity: Preferential cleavage: Phe- -Xaa > Tyr- -Xaa > Trp- -Xaa > Leu- -Xaa

         Genatlas biochemistry entry for CMA1:
    chymase,mast cell,with a variant putatively involved in eczema

    Enzyme Numbers (IUBMB): EC 3.4.21.391 2 EC 3.4.212

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity NAS8144971
    GO:0008236serine-type peptidase activity TAS2071582
    GO:0042277peptide binding IEA--


    CMA1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cma1tm1Mfg for CMA1
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cma1):
     immune system 

    CMA1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway, Pharmacodynamics1.00
    ACE Inhibitor Pathway0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics1.00
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix1.00
    Activation of Matrix Metalloproteinases0.40
    3Renin-angiotensin system
    Renin-angiotensin system1.00
    Metabolism of Angiotensinogen to Angiotensins0.48
    4PIP3 activates AKT signaling
    Signaling by SCF-KIT0.72
    5Signaling by GPCR
    Signal Transduction0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CMA1
        Metalloproteases in connective tissue degradation


    1 BioSystems Pathway for CMA1 
        ACE Inhibitor Pathway

    5/8        Reactome Pathways for CMA1 (see all 8)
        Metabolism of Angiotensinogen to Angiotensins
    Extracellular matrix organization
    Signal Transduction
    Signaling by SCF-KIT
    Metabolism of proteins

    2 PharmGKB Pathways for CMA1
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for CMA1):
        Renin-angiotensin system


    CMA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CMA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for CMA1 (P239463 ENSP000002503784) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTP010193, ENSP000003556274I2D: score=1 STRING: ENSP00000355627
    EDN1P053053, ENSP000003686834I2D: score=1 STRING: ENSP00000368683
    KITLGP215833, ENSP000002282804I2D: score=1 STRING: ENSP00000228280
    MMP1P039563, ENSP000003227884I2D: score=1 STRING: ENSP00000322788
    PFN1P077373, ENSP000002256554I2D: score=1 STRING: ENSP00000225655
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006518peptide metabolic process IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030901midbrain development IEA--


    CMA1 for ontologies           About GeneDecksing



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

    CMA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for CMA1

    Compounds for CMA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    RETF-4NASelective chymase substrate[1160928-63-1]

    2 HMDB Compounds for CMA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Kinetensin 1-7Ile-Ala-Arg-Arg-His-Pro-Tyr;KT(1-7) 34273-10-4--
    Kinetensin 4-7Arg-His-Pro-Tyr;KT(4-7) 34273-10-4--

    5 DrugBank Compounds for CMA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--17139284 17016423
    2-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid-- --target--17139284 17016423
    Benzylsulfinic Acid-- --target--17139284 17016423
    Phenylalanylmethane-- 5440-27-7target--10592235
    [(1S)-1-(5-CHLORO-1-BENZOTHIEN-3-YL)-2-(2-NAPHTHYLAMINO)-2-OXOETHYL]PHOSPHONIC ACID-- --target--10592235

    10/12 Novoseek chemical compound relationships for CMA1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    scca1 86.7 5 10653592 (1), 14630915 (1), 12949073 (1), 9817977 (1)
    chymostatin 80.3 1 2266130 (1)
    serine 72 27 7867649 (1), 8913536 (1), 10653592 (1), 15163313 (1) (see all 27)
    heparin 41.1 3 2249356 (1), 9760188 (1), 8615699 (1)
    histamine 38.9 3 2249356 (1), 8095126 (1), 12234623 (1)
    procollagen 35.9 5 9054407 (3), 15703960 (1)
    cysteine 34 4 10653592 (1), 14630915 (1), 12949073 (1), 9817977 (1)
    allergens 5.4 1 15703960 (1)
    capsaicin 3.2 1 9508340 (1)
    cholesterol 1.42 7 10195937 (3), 9335947 (1), 12231569 (1), 12531890 (1)

    Search CenterWatch for drugs/clinical trials and news about CMA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CMA1 gene: 
    NM_001836.3  

    Unigene Cluster for CMA1:

    Chymase 1, mast cell
    Hs.135626  [show with all ESTs]
    Unigene Representative Sequence: NM_001836
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000250378(uc001wpp.1) ENST00000206446(uc010alx.1)

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    Additional cDNA sequence: 

    AB451464.1 BC069110.1 BC069370.1 BC069490.1 BC103974.1 BC103975.1 DQ082727.1 DQ082729.1 
    M69136.1 S61334.1 

    1 DOTS entry:

    DT.75163377 

    8 AceView cDNA sequences:

    BC069370 NM_001836 AW291605 BC069110 BC069490 S61334 BX280474 M69136 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CMA1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
    SP1:                              
    SP2:        -                     


    ECgene alternative splicing isoforms for CMA1

    (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

    CMA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATCCCCAGG

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

    About this image
    See CMA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CMA1

    SOURCE GeneReport for Unigene cluster: Hs.135626

    UniProtKB/Swiss-Prot: CMA1_HUMAN, P23946
    Tissue specificity: Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria
    pigmentosa lesions

        SABiosciences Expression via Pathway-Focused PCR Arrays including CMA1: 
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CMA1 gene from 2/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-165b19.86
    si:ch211-212d10.16
    (see all 7)
    si:ch211-212d10.1
    (see all 7)
    36(a)
    35(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    9(33700477-33702236)
    22(18754482-18758349)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322716
    CG322706
    (see all 49)
    --
    27(a)
    27(a)
    (see all 49)
    possible ortholog
    possible ortholog
    (see all 49)
    3L(3202238-3203162)
    3L(3206949-3208985)


    ENSEMBL Gene Tree for CMA1 (if available)
    TreeFam Gene Tree for CMA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CMA1 gene
    PRTN32  GZMH2  GZMK2  PRSS572  CTSG2  CFD2  ELANE2  AZU12  
    GZMM2  GZMB2  GZMA2  
    18/82 SIMAP similar genes for CMA1 using alignment to 4 protein entries:     CMA1_HUMAN (see all proteins) (see all similar genes):
    CTSG    GZMB    GZMH    KLK8    GZMA    PRTN3
    KLK4    DF    PRSS1    KLK7    CFD    CTRB2
    CTRB1    CFI    GZMK    PRSS3    ELANE    KLK13

    CMA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/152 NCBI SNPs in CMA1 are shown (see all 152    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1920569071,2
    --24974251(+) AATTGA/GTATAG 1 -- ds50010--------
    rs1169178121,2
    C,F,--24974263(+) GTTGAT/AGATTA 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs776825831,2
    --24974403(+) CTCTCT/CCTCCC 1 -- ds50011Minor allele frequency- C:0.00NA 2
    rs101381311,2
    C,A--24974412(+) CCCCCA/CCATAC 1 -- ds50010--------
    rs719235961,2
    C,--24974456(+) CACAC-/ACAA  
            
    ACCCC
    1 -- ds50010--------
    rs578418831,2
    C,--24974458(+) ACACA-/AACCCCT 1 -- ds50010--------
    rs18851091,2
    C,H,--24974459(-) GGGGTG/TTGTGT 1 -- ds50014Minor allele frequency- T:0.00WA NA CSA 7
    rs52501,2
    C,F,O,A,H,--24974621(-) CACAAC/TCCTAA 1 -- ds500124Minor allele frequency- T:0.15MN NA NS EA WA CSA 2699
    rs1456063171,2
    C,--24974703(+) TTCAGC/GCTGGC 1 -- ds50010--------
    rs735969761,2
    C,F,--24974704(+) TCAGGC/ATGGCT 1 -- ds50013Minor allele frequency- A:0.01WA EU 1153

    HapMap Linkage Disequilibrium report for CMA1 (24974559 - 24977471 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CMA1: --
    Human Gene Mutation Database (HGMD): CMA1

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    (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.)
    About This Section

    CMA1 for disorders           About GeneDecksing

    OMIM gene information: 118938    OMIM disorders: --

    20/54 diseases for CMA1 (see all 54):    About MalaCards
    alpha-1-antichymotrypsin deficiency    hypertension    open-angle glaucoma    breast pericanalicular fibroadenoma
    systolic heart failure    abdominal aortic aneurysm    vernal keratoconjunctivitis    aortic aneurysm
    idiopathic interstitial pneumonia    neurogenic bladder    crescentic glomerulonephritis    keratoconjunctivitis
    urticaria pigmentosa    renovascular hypertension    portal hypertension    coronary heart disease
    pulmonary fibrosis    inflammatory bowel disease    bronchial asthma    hypertrophic cardiomyopathy

    6 diseases from the University of Copenhagen DISEASES database for CMA1:
    Mastocytosis     Asthma     Dermatitis     Heart disease
    Rhinitis     Atherosclerosis

    10/17 Novoseek disease relationships for CMA1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    keratoconjunctivitis vernal 58.9 1 15512949 (1)
    dermatitis atopic 49.5 12 16134991 (2), 15703960 (2), 10550754 (1), 15248847 (1) (see all 5)
    mastocytoma 45.1 4 1900681 (1), 8601622 (1)
    dermatitis 40.4 2 9257378 (1), 12234623 (1)
    eczema 39.3 5 15248847 (2), 15703960 (1), 9463800 (1), 8774571 (1)
    inflammation 32.2 10 11173969 (1), 15924217 (1), 9817978 (1), 15248847 (1) (see all 8)
    vascular diseases 30.6 1 10508822 (1)
    asthma 28.9 4 15248847 (3), 15924217 (1)
    atopy 28.6 1 16134991 (1)
    asthma allergic 24.4 5 15924217 (3)

    Genetic Association Database (GAD): CMA1
    Human Genome Epidemiology (HuGE) Navigator: CMA1 (34 documents)

    Export disorders for CMA1 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 CMA1 gene, integrated from 9 sources (see all 217):
    (articles sorted by number of sources associating them with CMA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphism of the mast cell chymase gene (CMA1) promoter region: lack of association with asthma but association with serum total immunoglobulin E levels in adult atopic dermatitis. (PubMed id 15248847)1, 4, 9 Iwanaga T....Holloway J.W. (2004)
    2. Association study of mast cell chymase polymorphisms with atopy. (PubMed id 16134991)1, 4, 9 Weidinger S....Illig T. (2005)
    3. A novel (TG)n(GA)m repeat polymorphism 254 bp downstream of the mast cell chymase (CMA1) gene is associated with atopic asthma and total serum IgE levels. (PubMed id 15924217)1, 4, 9 Sharma S....Ghosh B. (2005)
    4. Cloning of the gene and cDNA for human heart chymase. (PubMed id 1894611)1, 2, 9 Urata H.... Husain A. (1991)
    5. Structure, chromosomal assignment, and deduced amino acid sequence of a human gene for mast cell chymase. (PubMed id 2071582)1, 2, 9 Caughey G.H.... Vanderslice P. (1991)
    6. The human mast cell chymase gene (CMA1): mapping to the cathepsin G/granzyme gene cluster and lineage-restricted expression. (PubMed id 8468056)1, 3, 9 Caughey G.H....Ley T.J. (1993)
    7. A study of the relationships between angiotensin- converting enzyme gene, chymase gene polymorphisms, pharmacological treatment with ACE inhibitor and regression of left ventricular hypertrophy in essential hypertension patients treated with benazepril. (PubMed id 15788353)1, 4 He H....Hu Y.H. (2005)
    8. Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population. (PubMed id 15914614)1, 4 Hashizume K....Miyaki K. (2005)
    9. [Association between angiotensin converting enzyme gene, chymase gene and regression of left ventricular hypertrophy in patients treated with angiotensin converting enzyme inhibitors.] (PubMed id 15555355)1, 4 He H....Hu Y.H. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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: 1215 HGNC: 2097 AceView: CMA1 Ensembl:ENSG00000092009 euGenes: HUgn1215
    ECgene: CMA1 Kegg: 1215 H-InvDB: CMA1

    (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 CMA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CMA1 gene:
    Search GeneIP for patents involving CMA1

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



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