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

CAPN6 Gene

protein-coding   GIFtS: 62
GCID: GC0XM110488

Calpain 6

Alzheimer's & Parkinson's Diseases Congress
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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)
About This Section

Aliases
Calpain 61 2     calpain-62
Calpain-Like Protease X-Linked2 3     calpamodulin2
CANPX2 3     CALPM3
CalpM2 3     Calpamodulin3
CAPNX2     EC 3.4.228
DJ914P14.12     

External Ids:    HGNC: 14831   Entrez Gene: 8272   Ensembl: ENSG000000772747   OMIM: 3001465   UniProtKB: Q9Y6Q13   

Export aliases for CAPN6 gene to outside databases

Previous GC identifers: GC0XM105791 GC0XM107635 GC0XM108513 GC0XM109252 GC0XM110294 GC0XM110374 GC0XM100116


(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 CAPN6 Gene:
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are
heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a
cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in
neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The
protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the
calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested
to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and
promoting angiogenesis. (provided by RefSeq, Nov 2009)

GeneCards Summary for CAPN6 Gene: 
CAPN6 (calpain 6) is a protein-coding gene. Diseases associated with CAPN6 include leiomyosarcoma, and uterine sarcoma, and among its related super-pathways are nNOS Signaling in Skeletal Muscle and Integrin Pathway. GO annotations related to this gene include microtubule binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN8.

UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1
Function: Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and
cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control
lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site
residues (By similarity)

summary for CAPN6 Gene:
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals.
This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most
well-characterized. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa
regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure. Calpains are regulated
by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization
(limiting access to substrate). These endopeptidases have numerous functions including, but not limited to,
remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility,
proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling
progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic
pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been
associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimer's
disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).




(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_000023.10  NC_018934.2  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAPN6 gene promoter:
         GCNF   MyoD   Nkx2-5   AREB6   MZF-1   GCNF-1   Cart-1   SEF-1 (1)   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CAPN6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPN6


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

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq23

CAPN6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM110488:  view genomic region     (about GC identifiers)

Start:
110,488,327 bp from pter      End:
110,513,774 bp from pter
Size:
25,448 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: CAN6_HUMAN, Q9Y6Q1 (See protein sequence)
Recommended Name: Calpain-6  
Size: 641 amino acids; 74576 Da
Subunit: Interacts (via domain III) with microtubules (By similarity). Interacts (via domain II) with ARHGEF2 (via
the N-terminal zinc finger) (By similarity)
Subcellular location: Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, spindle. Note=During mitose
associated with the mitotic spindle. At telophase colocalized to the midbody spindle
Secondary accessions: D3DUY7 Q9UEQ1 Q9UJA8

Explore the universe of human proteins at neXtProt for CAPN6: NX_Q9Y6Q1

Explore proteomics data for CAPN6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6Q1

  • 2 DME Specific Peptides for CAPN6 (Q9Y6Q1)
     YAGIFHF  LLEKAYAK 

    CAPN6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CAPN6 Protein Expression
    REFSEQ proteins: NP_055104.2  
    ENSEMBL proteins: 
     ENSP00000317214   ENSP00000441736  

    Human Recombinant Protein Products for CAPN6: 
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    Novus Biologicals CAPN6 Protein
    Novus Biologicals CAPN6 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAPN6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005874microtubule ----
    GO:0005876spindle microtubule IDA17210638
    GO:0048471perinuclear region of cytoplasm IDA17210638

    CAPN6 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
    5/6 InterPro protein domains (see all 6):
     IPR001300 Peptidase_C2_calpain_cat
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR022684 Calpain_cysteine_protease
     IPR022683 Calpain_III
     IPR022682 Calpain_domain_III

    Graphical View of Domain Structure for InterPro Entry Q9Y6Q1

    ProtoNet protein and cluster: Q9Y6Q1

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB001300 Calpain cysteine protease (C2) family signature


    UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 calpain catalytic domain


    CAPN6 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: CAN6_HUMAN, Q9Y6Q1
    Function: Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and
    cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control
    lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site
    residues (By similarity)

         Genatlas biochemistry entry for CAPN6:
    calpain,class C,large polypeptide,likely lacking a protease activity,papain superfamily,nCL-3 type,expressed only
    in placenta,homolog to C elegans sex determination gene tra3

         Enzyme Number (IUBMB): EC 3.4.222

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0008017microtubule binding ISS--
         
    CAPN6 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CAPN6:
     Decreased p24 protein expressi  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAPN6 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN6 
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    SwitchGear 3'UTR luciferase reporter plasmidCAPN6 3' UTR sequence
    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 CAPN6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    nNOS Signaling in Skeletal Muscle0.37
    Calpain Protease Regulates Cellular Mechanics0.31
    Caspase Cascade0.36
    2Integrin Pathway
    FAK1 Signaling0.67
    3Rho Family GTPases
    ERK Signaling0.61
    4Apoptosis Pathway
    Apoptosis Pathway0.45
    5Focal Adhesion
    Integrin-mediated cell adhesion0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAPN6
        Caspase Cascade
    ERK Signaling
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling
    nNOS Signaling in Skeletal Muscle

    1 Tocris Bioscience Pathway for CAPN6
        Apoptosis Pathway

    1 BioSystems Pathway for CAPN6
        Integrin-mediated cell adhesion


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CAPN6

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

    5/74 Interacting proteins for CAPN6 (Q9Y6Q12, 3 ENSP000003172144) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EZRP153112, 3, ENSP000003389344MINT-73253 I2D: score=1 STRING: ENSP00000338934
    SLC9A3R1O147452, 3, ENSP000002626134MINT-73252 I2D: score=1 STRING: ENSP00000262613
    ATP6V1B2P212812, ENSP000002763904MINT-4054731 STRING: ENSP00000276390
    A2MP010232MINT-4054731
    ACTBP607092MINT-4054731
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001578microtubule bundle formation ISS--
    GO:0006508proteolysis IEA--
    GO:0051493regulation of cytoskeleton organization ISS--

    CAPN6 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
    EMD Millipore small molecules for CAPN6:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CAPN6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Acetyl-Calpastatin (184-210) (human)Selective calpain inhibitor[123714-50-1]
    MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
    PD 150606Cell permeable calpain inhibitor[179528-45-1]
    MG 132Proteasome and calpain inhibitor. Inhibits NF-kappaB activation[133407-82-6]
    MG 101Calpain inhibitor; activates p53-dependent apoptosis[110044-82-1]

    Search CenterWatch for drugs/clinical trials and news about CAPN6 / CAN6

    (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 CAPN6 gene: 
    NM_014289.3  

    Unigene Cluster for CAPN6:

    Calpain 6
    Hs.496593  [show with all ESTs]
    Unigene Representative Sequence: AJ000388
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324068(uc011msu.2 uc004epc.2) ENST00000541758

    miRNA
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    hsa-miR-124* hsa-miR-361-5p hsa-miR-15a hsa-miR-4267 hsa-miR-890 hsa-miR-298 hsa-miR-3612 hsa-miR-509-3-5p
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    Additional mRNA sequence: 

    AF029232.1 AJ000388.1 AK300340.1 AK312701.1 BC000730.2 L32067.1 

    7 DOTS entries:

    DT.217595  DT.100735277  DT.100735281  DT.100822403  DT.121276879  DT.92435491  DT.91971712 

    24/162 AceView cDNA sequences (see all 162):

    AU135982 AA610107 AI675891 AU140650 NM_014289 AA330217 AL540944 AA457238 
    H94028 BM678677 BC000730 AW604228 CA448545 AA242946 CA412062 CR607180 
    AW604235 BQ002142 AI858274 R80793 T39424 AI811462 BQ575294 AI672238 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CAPN6    About this scheme

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


    ECgene alternative splicing isoforms for CAPN6

    (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

    CAPN6 expression in normal human tissues (normalized intensities)      CAPN6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTCCAGTC
    CAPN6 Expression
    About this image


    CAPN6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Fibroblasts Myocardium
             Heart Tube
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
             Limb Bud
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             Uterus Corpus   
     
     Breast (Uncategorized)    fully expand to see all 2 entries
             breast epithelium   

    See CAPN6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAPN6

    SOURCE GeneReport for Unigene cluster: Hs.496593

    UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1
    Tissue specificity: Expressed only in placenta

        SABiosciences Expression via Pathway-Focused PCR Array including CAPN6: 
              Necrosis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN6

    (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 CAPN6 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn61 , 5 calpain 61, 5 90.12(n)1
    95.16(a)1
      X (64.83 cM)5
    123381  NM_007603.31  NP_031629.31 
     1438022315 
    chicken
    (Gallus gallus)
    Aves CAPN61 calpain 6 62.25(n)
    54.6(a)
      422341  XM_420313.3  XP_420313.2 


    ENSEMBL Gene Tree for CAPN6 (if available)
    TreeFam Gene Tree for CAPN6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPN6 gene
    CAPN82  CAPN142  CAPNS12  CAPN132  CAPN12  CAPN52  CAPN92  CAPNS22  
    CAPN22  CAPN32  CAPN122  CAPN112  CAPN102  
    7 SIMAP similar genes for CAPN6 using alignment to 2 protein entries:     CAN6_HUMAN (see all proteins):
    CAPN5    CAPN8    CAPN2    CAPN9    CAPN1    CAPN11
    CAPN3

    CAPN6 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

    10/435 SNPs in CAPN6 are shown (see all 435)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360484
    A colorectal cancer sample4--see VAR_0360482 G R mis40--------
    rs1884967881,2
    C--110467904(+) AGGCAC/TTTTTT 1 -- ds50010--------
    rs1489352861,2
    --110468063(+) GAGAGA/CTCTTC 1 -- ds50010--------
    rs1813089571,2
    --110468123(+) TAGGAG/TTTTCA 1 -- ds50010--------
    rs178803731,2
    C,F--110468278(-) GAAATC/TTGAGC 1 -- ds50011Minor allele frequency- T:0.01NS 170
    rs178790231,2
    C,F--110468597(-) TTCCAC/ACCCAA 1 -- ut31 ese32Minor allele frequency- A:0.01NS NA 176
    rs1383311931,2
    C--110468653(+) AAGGAA/GGGGCA 1 -- ut310--------
    rs178829411,2
    C,F--110468739(-) TCTCAT/CTTTTC 1 -- ut311Minor allele frequency- C:0.01NS 174
    rs1859484001,2
    --110468839(+) GATGGG/TGTCTT 1 -- ut310--------
    rs413073891,2
    C,F--110468897(+) ACCTAA/GCAGCA 1 -- ut311Minor allele frequency- G:0.00NA 1

    HapMap Linkage Disequilibrium report for CAPN6 (110488327 - 110513774 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CAPN6: --

    Locus Specific Mutation Databases (LSDB): CAPN6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CAPN6
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN6

    (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: 300146    OMIM disorders: --

    9 diseases for CAPN6:    About MalaCards
    leiomyosarcoma    uterine sarcoma    gastric cancer    leiomyoma
    muscular dystrophy    alzheimer's disease    sarcoma    osteosarcoma
    cervicitis


    CAPN6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for CAPN6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leiomyosarcoma 53.2 1 17291261 (1)
    leiomyoma 52.8 1 12761473 (1)
    tumors 0 3 18357368 (2), 17291261 (1)

    Genetic Association Database (GAD): CAPN6
    Human Genome Epidemiology (HuGE) Navigator: CAPN6 (5 documents)

    Export disorders for CAPN6 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 CAPN6 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with CAPN6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. (PubMed id 9339374)1, 2, 3, 9 Dear N....Boehm T. (1997)
    2. Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily. (PubMed id 9503024)1, 3, 9 Matena K....Dear N. (1998)
    3. Calpain 6 is involved in microtubule stabilization and cytoskeletal organization. (PubMed id 17210638)1, 2, 9 Tonami K....Kurihara H. (2007)
    4. Family-based association study for bipolar affective disorder. (PubMed id 20414141)1, 4 Secolin R....Lopes-Cendes I. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. 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)
    8. Calpain 6 supports tumorigenesis by inhibiting apoptosis and facilitating angiogenesis. (PubMed id 18657900)1, 9 Rho S.B....Chun T. (2008)
    9. Calpain-6 is an endothelin-1 signaling dependent prote ctive factor in chemoresistant osteosarcoma. (PubMed id 21681744)1 Marion A....Modrowski D. (2012)
    10. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 827 HGNC: 1483 AceView: CAPN6 Ensembl:ENSG00000077274 euGenes: HUgn827
    ECgene: CAPN6 H-InvDB: CAPN6

    (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 CAPN6 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/capn6/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CAPN6 gene:
    Search GeneIP for patents involving CAPN6

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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