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CMA1 Gene

protein-coding   GIFtS: 68
GCID: GC14M024974

Chymase 1, Mast Cell

  See CMA1-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 vernal keratoconjunctivitis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 Chromatin IP Primers for CMA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CMA1_HUMAN, P23946 (See protein sequence)
Recommended Name: Chymase precursor  
Size: 247 amino acids; 27325 Da
Selected PDB 3D structures from and Proteopedia for CMA1 (see all 18):
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: 

  • Glycosylation2 at Asn80, Asn103
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CMA1 (P23946) (see all 13)
     QLCVGNP  PPGRMCR  DIMLLKL  GDSGGPL 


    See CMA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001827.1  
    ENSEMBL proteins: 
     ENSP00000250378   ENSP00000206446  
    Reactome Protein details: P23946

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with CMA1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with CMA1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cma1):
     hematopoietic system  immune system 

    Find genes that share phenotypes with CMA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cma1tm1Mfg for CMA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CMA1
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    (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
    CMA1_HUMAN, P23946: Secreted. Cytoplasmic granule. Note=Mast cell granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome3
    vacuole2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005622intracellular ----
    GO:0030141secretory granule IBA--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with CMA1           About GenesLikeMe


    (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 CMA1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.37
    ACE Inhibitor Pathway, Pharmacodynamics0.00
    Renin-angiotensin system0.37
    ACE Inhibitor Pathway0.00
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    3Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Metabolism of Angiotensinogen to Angiotensins0.00
    4PI-3K cascade
    Signaling by SCF-KIT0.72
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with CMA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CMA1
        ACE Inhibitor Pathway


    3 Reactome Pathways for CMA1
        Metabolism of Angiotensinogen to Angiotensins
    Signaling by SCF-KIT
    Activation of Matrix Metalloproteinases

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CMA1: 
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CMA1

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

    Selected 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): Selected biological process terms (see all 11):    About this table

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

    Find genes that share ontologies with CMA1           About GenesLikeMe



    (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 CMA1
      Browse compounds at ApexBio 

    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

    Selected 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)



    Find genes that share compounds with CMA1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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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 S61334 M69136 BC069370 BC069110 BC069490 AW291605 NM_001836 

    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™, 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)
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    CMA1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
    CMA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CMA1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CMA1 gene from Selected 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 77.54(n)1
    74.68(a)1
      14 (28.19 cM)5
    172281  NM_010780.21  NP_034910.11 
     559414535 
    chicken
    (Gallus gallus)
    Aves CMA16
    chymase 1, mast cell
    40(a)
    1 ↔ 1
    28(1210143-1212697)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    38(a)
    37(a)
    1 ↔ many
    1 ↔ many
    GL343717.1(208040-216141)
    GL343717.1(249182-253080)
    zebrafish
    (Danio rerio)
    Actinopterygii CMA1 (19 of 29)6
    CMA1 (23 of 29)6
    (see all 29)
    chymase 1, mast cell
    (see all 29)
    37(a)
    36(a)
    (see all 29)
    1 ↔ many
    1 ↔ many
    (see all 29)
    9(33700477-33702236) ENSDARG00000093990
    22(19565580-19569063) ENSDARG00000095005


    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)
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    Paralogs for CMA1 gene
    GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  CFD2  ELANE2  AZU12  
    GZMM2  GZMA2  GZMB2  
    Selected 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    KLK4
    PRTN3    DF    KLK7    PRSS1    CFD    CTRB2
    CTRB1    CFI    GZMK    PRSS3    KLK3    GZMM

    Find genes that share paralogs with CMA1           About GenesLikeMe



    (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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    Selected SNPs for CMA1 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118938    OMIM disorders: --

    15 diseases for CMA1:    
    About MalaCards
    idiopathic interstitial pneumonia    vernal keratoconjunctivitis    crescentic glomerulonephritis    neurogenic bladder
    renovascular hypertension    systolic heart failure    portal hypertension    dengue shock syndrome
    urticaria pigmentosa    peritonitis    keratoconjunctivitis    urticaria
    hypertension    atopy    abdominal aortic aneurysm

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

    Find genes that share disorders with CMA1           About GenesLikeMe

    Selected 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)
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    PubMed articles for CMA1 gene, integrated from 10 sources (see all 221):
    (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. (Clin. Exp. Allergy 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. ( international review of thoracic diseases 2006)
    3. Association study of mast cell chymase polymorphisms with atopy. (PubMed id 16134991)1, 4, 9 Weidinger S....Illig T. (Allergy 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. (J. Hum. Genet. 2005)
    5. Cloning of the gene and cDNA for human heart chymase. (PubMed id 1894611)1, 2, 9 Urata H.... Husain A. (J. Biol. Chem. 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. (amp 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. (J. Biol. Chem. 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. (Genomics 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. (J. Heart Lung Transplant. 2009)
    10. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)

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

    (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 CMA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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