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CNN1 Gene

protein-coding   GIFtS: 63
GCID: GC19P011649

Calponin 1, Basic, Smooth Muscle

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(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
Calponin 1, Basic, Smooth Muscle1 2     Sm-Calp2
Basic Calponin2 3     calponin-12
Calponin H1, Smooth Muscle2 3     Calponins, Basic2
SMCC2 5     Epididymis Secretory Protein Li 142
HEL-S-142     

External Ids:    HGNC: 21551   Entrez Gene: 12642   Ensembl: ENSG000001301767   OMIM: 6008065   UniProtKB: P519113   

Export aliases for CNN1 gene to outside databases

Previous GC identifers: GC19P011781 GC19P011494 GC19P011510 GC19P011224


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CNN1 Gene:
CNN1 (calponin 1, basic, smooth muscle) is a protein-coding gene. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is TAGLN2.

UniProtKB/Swiss-Prot: CNN1_HUMAN, P51911
Function: Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle
contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of
calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity)




(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_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNN1 gene promoter:
         MAZR   Pax-5   RREB-1   FOXO3   FOXO3b   CREB   FOXO4   Sox9   FOXO3a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNN1 promoter sequence
   Search Chromatin IP Primers for CNN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNN1


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

Entrez Gene cytogenetic band: 19p13.2-p13.1   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2-p13.1

CNN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNN1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P011649:  view genomic region     (about GC identifiers)

Start:
11,649,532 bp from pter      End:
11,661,138 bp from pter
Size:
11,607 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CNN1_HUMAN, P51911 (See protein sequence)
Recommended Name: Calponin-1  
Size: 297 amino acids; 33170 Da
Subunit: Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1,
PLN/phospholamban, PRKG1 and ITPR1 (By similarity)
1 PDB 3D structure from and Proteopedia for CNN1:
1WYP (3D)    
Secondary accessions: B2R868 O00638 Q15416 Q8IY93 Q99438

Explore the universe of human proteins at neXtProt for CNN1: NX_P51911

Explore proteomics data for CNN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CNN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001290.2  
    ENSEMBL proteins: 
     ENSP00000252456   ENSP00000468259   ENSP00000442031   ENSP00000466886   ENSP00000468326  
     ENSP00000468737   ENSP00000468293   ENSP00000467701   ENSP00000468053   ENSP00000437470  

    CNN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for CNN1
    OriGene Protein Over-expression Lysate for CNN1
    OriGene MassSpec for CNN1
    OriGene Custom Protein Services for CNN1
    GenScript Custom Purified and Recombinant Proteins Services for CNN1
    Novus Biologicals CNN1 Proteins
    Novus Biologicals CNN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CNN1
    Cloud-Clone Corp. Proteins for CNN1

     
    Search eBioscience for Proteins for CNN1 

     
    antibodies-online proteins for CNN1 (7 products) 

     
    antibodies-online peptides for CNN1

    CNN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CNN1
    R&D Systems Antibodies for CNN1 (Calponin 1)
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    OriGene Custom Antibody Services for CNN1
    Novus Biologicals CNN1 Antibodies
    Abcam antibodies for CNN1
    Cloud-Clone Corp. Antibodies for CNN1
    ThermoFisher Antibody for CNN1
    antibodies-online antibodies for CNN1 (56 products) 

    CNN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CNN1
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    GenScript Custom Assay Services for CNN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CNN1
    Cloud-Clone Corp. CLIAs for CNN1
    Search eBioscience for ELISAs for CNN1 
    antibodies-online kits for CNN1 (16 products) 


    (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:
     IPR001997 Calponin
     IPR001715 CH-domain
     IPR003096 SM22_calponin
     IPR000557 Calponin_repeat

    Graphical View of Domain Structure for InterPro Entry P51911

    ProtoNet protein and cluster: P51911

    3 Blocks protein domains:
    IPB001715 Calponin-like actin-binding
    IPB001997 Calponin signature
    IPB003247 Calponin-like actin-binding subtype


    UniProtKB/Swiss-Prot: CNN1_HUMAN, P51911
    Similarity: Belongs to the calponin family
    Similarity: Contains 3 calponin-like repeats
    Similarity: Contains 1 CH (calponin-homology) domain


    Find genes that share domains with CNN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: CNN1_HUMAN, P51911
    Function: Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle
    contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of
    calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity)

         Genatlas biochemistry entry for CNN1:
    calponin,basic,cytoskeletal protein of smooth muscle cells,33kDa,expressed in aorta,actin,calmodulin,tropomyosin
    binding,down-regulated during dedifferentiation of vascular smooth muscle cell

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with CNN1           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cnn1):
     cellular  homeostasis/metabolism  limbs/digits/tail  mortality/aging  skeleton 

    Find genes that share phenotypes with CNN1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CNN1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CNN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNN1 (see all 42):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-15a hsa-miR-218 hsa-miR-372 hsa-miR-424 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidCNN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CNN1
    Predesigned siRNA for gene silencing in human, mouse, rat CNN1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CNN1

    Clone
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    OriGene clones in human, mouse for CNN1 (see all 7)
    OriGene ORF clones in mouse, rat for CNN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CNN1 (NM_001299)
    Sino Biological Human cDNA Clone for CNN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNN1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CNN1
    ESI BIO PureStem Progenitor for CNN1: 
    PureStem Z11, Meso Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNN1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IDA8616889

    Find genes that share ontologies with CNN1           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 CNN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    2Endothelin
    Endothelin


    2 BioSystems Pathways for CNN1
        Myometrial Relaxation and Contraction Pathways
    Endothelin



        Pathway & Disease-focused RT2 Profiler PCR Array including CNN1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CNN1

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

    Selected Interacting proteins for CNN1 (P519113 ENSP000002524564) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    ACTA1P681333, ENSP000003556454I2D: score=2 STRING: ENSP00000355645
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006940regulation of smooth muscle contraction TAS14550641
    GO:0031032actomyosin structure organization IEA--

    Find genes that share ontologies with CNN1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CNN1

    1 Novoseek inferred chemical compound relationship for CNN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actinomycin d 42.3 5 11252166 (1), 11439113 (1)



    Find genes that share compounds with CNN1           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 CNN1 gene: 
    NM_001299.4  

    Unigene Cluster for CNN1:

    Calponin 1, basic, smooth muscle
    Hs.465929  [show with all ESTs]
    Unigene Representative Sequence: AK316406
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252456(uc002msc.1 uc010xmb.1 uc010xmc.1) ENST00000592923
    ENST00000535659 ENST00000588468 ENST00000586059 ENST00000585869 ENST00000587087
    ENST00000592338 ENST00000586577 ENST00000588935 ENST00000544952
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CNN1 (see all 42):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-15a hsa-miR-218 hsa-miR-372 hsa-miR-424 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidCNN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CNN1
    Predesigned siRNA for gene silencing in human, mouse, rat CNN1
    Clone
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    OriGene clones in human, mouse for CNN1 (see all 7)
    OriGene ORF clones in mouse, rat for CNN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CNN1 (NM_001299)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CNN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNN1
      QuantiTect SYBR Green Assays in human, mouse, rat CNN1
      QuantiFast Probe-based Assays in human, mouse, rat CNN1

    Additional mRNA sequence: 

    AK223234.1 AK300837.1 AK301888.1 AK313255.1 AK316406.1 BC022015.2 BC036307.1 D17408.1 
    D86058.1 S80560.1 U37019.1 

    7 DOTS entries:

    DT.215239  DT.91774517  DT.95190133  DT.95297270  DT.95190132  DT.95190135  DT.99965045 

    Selected AceView cDNA sequences (see all 210):

    BP377279 AL046845 BM544845 BM848990 BM849320 BP341700 BU623289 AL046846 
    AI208248 BM818833 AI224612 BC036307 BU149887 BP334774 BI831662 AA594452 
    BU838479 AI620235 AI679293 BM848691 BM848794 AW469113 NM_001299 AU122686 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CNN1    About this scheme

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


    ECgene alternative splicing isoforms for CNN1

    (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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    CNN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGAGACC
    CNN1 Expression
    About this image


    CNN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Neo-Urinary Conduit
             Neuroectoderm-derived smooth muscle cells
             smooth muscle ; smooth muscle cells   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Vascular Smooth Muscle Cells Veins
             Endothelial-like cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Umbilical Veins
             Umbilical cord-derived mesenchymal stem cells (family)
    CNN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465929

    UniProtKB/Swiss-Prot: CNN1_HUMAN, P51911
    Tissue specificity: Smooth muscle, and tissues containing significant amounts of smooth muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including CNN1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CNN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNN1

    (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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CNN1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnn11 , 5 calponin 11, 5 89(n)1
    97.64(a)1
      9 (8.30 cM)5
    127971  NM_009922.41  NP_034052.31 
     220992535 
    lizard
    (Anolis carolinensis)
    Reptilia CNN16
    calponin 1, basic, smooth muscle
    84(a)
    1 ↔ 1
    2(78483390-78491378)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687372 hypothetical protein MGC68737 75.33(n)    BC060387.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5722501 calponin-1-like 73.8(n)
    77.49(a)
      572250  XM_695946.5  XP_701038.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Chd643
    CG50231
    actin binding3
    CG50231
    40(a)3
    52.26(n)1
    42.59(a)1
      64A73
    424001  NM_142610.31  NP_650867.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cpn-26
    Protein CPN-2 (cpn-2) mRNA, complete cds
    36(a)
    1 → many
    II(337339-339248) WBGene00000778
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCP16
    Component of yeast cortical actin cytoskeleton, bi...
    25(a)
    1 → many
    XV(1026007-1026609) YOR367W


    ENSEMBL Gene Tree for CNN1 (if available)
    TreeFam Gene Tree for CNN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNN1 gene
    TAGLN22  TAGLN2  CNN32  TAGLN32  CNN22  
    5 SIMAP similar genes for CNN1 using alignment to 9 protein entries:     CNN1_HUMAN (see all proteins):
    CNN3    CNN2    TAGLN3    TAGLN2    TAGLN

    Find genes that share paralogs with CNN1           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 CNN1 (see all 390)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1873755231,2
    --11647742(+) TACTGG/TCATGT 1 -- us2k10--------
    rs787227421,2
    C,F--11647762(+) AGGCCA/CGGCAT 1 -- us2k13Minor allele frequency- C:0.05WA NA EA 358
    rs1921311091,2
    --11647866(+) CCCCAA/CCTTAG 1 -- us2k10--------
    rs1451289741,2
    --11647870(+) ACCTTA/CGCCTC 1 -- us2k10--------
    rs133469021,2
    C,F--11647937(+) gtgacG/Cctgaa 1 -- us2k12Minor allele frequency- C:0.06CSA WA 120
    rs763776521,2
    C,F--11647961(+) GCCCCC/TGTGCC 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1835936531,2
    --11647998(+) TACTTA/GTATTA 1 -- us2k10--------
    rs1889760401,2
    --11648097(+) GAGTTC/TGAGAC 1 -- us2k10--------
    rs1491172871,2
    C--11648214(+) AGAATC/TGCTTG 1 -- us2k10--------
    rs1924644801,2
    --11648261(+) CATCAA/CTGCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CNN1 (11649532 - 11661138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CNN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509721CNV Insertion20534489
    nsv911062CNV Loss21882294
    nsv911065CNV Loss21882294
    nsv519802CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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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

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    OMIM gene information: 600806    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for CNN1:
    Small cell carcinoma

    Find genes that share disorders with CNN1           About GenesLikeMe

    1 Novoseek inferred disease relationship for CNN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 5 17391313 (3)

    Genetic Association Database (GAD): CNN1
    Human Genome Epidemiology (HuGE) Navigator: CNN1 (3 documents)

    Export disorders for CNN1 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

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    PubMed articles for CNN1 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with CNN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression, genomic structure and high resolution mapping to 19p13.2 of the human smooth muscle cell calponin gene. (PubMed id 9332369)1, 2, 3 Miano J.M.... Olson E.N. (Gene 1997)
    2. Molecular cloning and gene mapping of human basic and acidic calponins. (PubMed id 8526917)1, 2, 3 Maguchi M.... Hiwada K. (Biochem. Biophys. Res. Commun. 1995)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. 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. (Genome Res. 2004)
    5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    6. Hypertensive changes within the aortic arch of infants and children with isolated coarctation. (PubMed id 23731614)1 Swartz M.F....Alfieris G.M. (Ann. Thorac. Surg. 2013)
    7. D2-40: an additional marker for myoepithelial cells of breast and the precaution in interpreting tumor lymphovascular invasion. (PubMed id 21326813)1 Ren S....Zhang X. (Int J Clin Exp Pathol 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Smooth muscle calponin: an unconventional CArG-dependent gene that antagonizes neointimal formation. (PubMed id 21817093)1 Long X....Miano J.M. (Arterioscler. Thromb. Vasc. Biol. 2011)
    10. [Expression of Calponin-1 and Transgelin in human uterine smooth muscles in non-labor and labor situation]. (PubMed id 21051832)1 Chen Q....Peng C. (Zhong Nan Da Xue Xue Bao Yi Xue Ban 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)
    About This Section

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    Entrez Gene: 1264 HGNC: 2155 AceView: CNN1 Ensembl:ENSG00000130176 euGenes: HUgn1264
    ECgene: CNN1 H-InvDB: CNN1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CNN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CNN1 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

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    Patent Information for CNN1 gene:
    Search GeneIP for patents involving CNN1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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