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

CMA1 Gene

protein-coding   GIFtS: 68
GCID: GC14M024974

Chymase 1, Mast Cell

  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
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-chymase3
alpha-chymase2     CYM3
chymase2     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 Gene:
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)

GeneCards Summary for CMA1 Gene: 
CMA1 (chymase 1, mast cell) is a protein-coding gene. Diseases associated with CMA1 include idiopathic interstitial pneumonia, and breast pericanalicular fibroadenoma, and among its related super-pathways are ACE Inhibitor Pathway and Metabolism of Angiotensinogen to Angiotensins. GO annotations related to this gene include peptide binding and serine-type endopeptidase activity. An important paralog of this gene is GZMH.

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 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_000014.8  NC_018925.2  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 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: 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
6/17 PDB 3D structures from and Proteopedia for CMA1 (see all 17):
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

Explore proteomics data for CMA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CMA1 Protein Expression
    REFSEQ proteins: NP_001827.1  
    ENSEMBL proteins: 
     ENSP00000250378   ENSP00000206446  
    Reactome Protein details: P23946
    Human Recombinant Protein Products for CMA1: 
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    Cloud-Clone Corp. 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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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 domains:
    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


    CMA1 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: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS8144971
    GO:0008236serine-type peptidase activity TAS2071582
    GO:0042277peptide binding IEA--
         
    CMA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cma1):
     immune system 

    CMA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cma1tm1Mfg for CMA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CMA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CMA1

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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 CMA1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway0.85
    ACE Inhibitor Pathway, Pharmacodynamics0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.85
    2Renin-angiotensin system
    Renin-angiotensin system0.43
    Metabolism of Angiotensinogen to Angiotensins0.43
    3Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Activation of Matrix Metalloproteinases0.40
    4PIP3 activates AKT signaling
    Signaling by SCF-KIT0.72
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002003angiotensin maturation TAS--
    GO:0006508proteolysis IEA--
    GO:0006518peptide metabolic process IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--

    CMA1 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

    CMA1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CMA1

    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 inferred 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 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 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 mRNA 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:

    BX280474 NM_001836 AW291605 BC069370 S61334 BC069110 BC069490 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)      CMA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCCCCAGG
    CMA1 Expression
    About this image


    CMA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
     
     Brain (Nervous System)
             Cerebral Cortex

    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: 
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Allergy & Asthma in human mouse rat

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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 chordates.

    Orthologs for CMA1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cma11 , 5 chymase 1, mast cell1, 5 77.46(n)1
    74.09(a)1
      14 (28.19 cM)5
    172281  NM_010780.21  NP_034910.11 
     559414535 
    chicken
    (Gallus gallus)
    Aves CTSG6
    Uncharacterized protein
    40(a)
    possible ortholog
    28(1210143-1212697)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    37(a)
    36(a)
    possible ortholog
    possible ortholog
    GL343717.1(249182-253080)
    GL343717.1(208040-216141)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-165b19.86
    GZMH6
    (see all 5)
    granzyme H (cathepsin G-like 2, protein h-CCPX)
    (see all 5)
    36(a)
    36(a)
    (see all 5)
    possible ortholog
    1 ↔ many
    (see all 5)
    9(33700477-33702236)
    22(18754482-18758349)


    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
    GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  CFD2  ELANE2  AZU12  
    GZMM2  GZMA2  GZMB2  
    18/71 SIMAP similar genes for CMA1 using alignment to 4 protein entries:     CMA1_HUMAN (see all proteins) (see all similar genes):
    CTSG    GZMH    GZMB    KLK8    GZMA    PRTN3
    KLK4    DF    PRSS1    KLK7    CFD    CTRB2
    CTRB1    CFI    GZMK    PRSS3    KLK3    ELANE

    CMA1 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

    10/198 SNPs in CMA1 are shown (see all 198)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs773048591,2
    --5088986(+) ATGTTC/GTTAGT 1 -- ds50010--------
    rs1920569071,2
    --24974251(+) AATTGA/GTATAG 1 -- ds50010--------
    rs1169178121,2
    C,F--24974263(+) GTTGAT/AGATTA 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs58072571,2
    C--24974380(+) ctatt-/TC/TCTC
    /TCTCTCTC
    tctct
    1 -- ds50011CSA 2
    rs2006831701,2
    C--24974382(+) CTCTC-/TC    
       
    /TCTC
    CCTCC
    1 -- ds50010--------
    rs101381311,2
    C,A--24974412(+) CCCCCA/CCATAC 1 -- ds50010--------
    rs578418831,2
    C--24974458(+) CACAC-/AAACCCC 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--------

    HapMap Linkage Disequilibrium report for CMA1 (24974559 - 24977471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CMA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv128n21CNV Gain19592680
    nsv511031CNV Complex20534489


    Human Gene Mutation Database (HGMD): CMA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CMA1
    DNA2.0 Custom Variant and Variant Library Synthesis for CMA1

    (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: 118938    OMIM disorders: --

    20/50 diseases for CMA1 (see all 50):    About MalaCards
    idiopathic interstitial pneumonia    breast pericanalicular fibroadenoma    alpha-1-antichymotrypsin deficiency    neurogenic bladder
    systolic heart failure    renovascular hypertension    urticaria pigmentosa    vernal keratoconjunctivitis
    crescentic glomerulonephritis    portal hypertension    eczema    keratoconjunctivitis
    hypertension    urticaria    dengue shock syndrome    atopy
    peritonitis    abdominal aortic aneurysm    atopic dermatitis    vascular disease

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

    CMA1 for disorders           About GeneDecksing

    10/17 Novoseek inferred 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 220):
    (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. Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients. (PubMed id 16446531)1, 4, 9 Kruit A....van den Bosch J.M. (2006)
    3. Association study of mast cell chymase polymorphisms with atopy. (PubMed id 16134991)1, 4, 9 Weidinger S....Illig T. (2005)
    4. 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)
    5. Cloning of the gene and cDNA for human heart chymase. (PubMed id 1894611)1, 2, 9 Urata H.... Husain A. (1991)
    6. Association of polymorphisms in the mast cell chymase gene promoter region (-1903 g/A) and (TG)n(GA)m repeat downstream of the gene with bronchial asthma in children. (PubMed id 18973102)1, 4, 9 Hossny E.M....Ibraheim E.M. (2008)
    7. 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)
    8. 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)
    9. Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension. (PubMed id 19332265)1, 4, 9 Chung W.K....Morse J.H. (2009)
    10. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)

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

      Query String
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      (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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