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CAPN11 Gene

protein-coding   GIFtS: 58
GCID: GC06P044126

Calpain 11

Alzheimer's & Parkinson's Diseases Congress
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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
Calpain 111 2     EC 3.4.22.-3
Calcium-Activated Neutral Proteinase 112 3     EC 3.4.228
CANP 112 3     EC 3.4.22.528
calpain-112     EC 3.4.22.548
calpain112     

External Ids:    HGNC: 14781   Entrez Gene: 111312   Ensembl: ENSG000001372257   OMIM: 6048225   UniProtKB: Q9UMQ63   

Export aliases for CAPN11 gene to outside databases

Previous GC identifers: GC06P044128 GC06P044173 GC06P044235 GC06P043847


(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 CAPN11 Gene:
Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in
this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein
appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role
in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis.
(provided by RefSeq, Dec 2008)

GeneCards Summary for CAPN11 Gene:
CAPN11 (calpain 11) is a protein-coding gene. Diseases associated with CAPN11 include muscular dystrophy, and alzheimer's disease. GO annotations related to this gene include calcium-dependent cysteine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is CAPN6.

UniProtKB/Swiss-Prot: CAN11_HUMAN, Q9UMQ6
Function: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates
involved in cytoskeletal remodeling and signal transduction

summary for CAPN11 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAPN11 gene promoter:
         COUP-TF1   Max1   COUP   LCR-F1   POU3F2   MZF-1   POU2F1   COUP-TF   POU2F1a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN11 promoter sequence
   Search Chromatin IP Primers for CAPN11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN11


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

Entrez Gene cytogenetic band: 6p12   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p12

CAPN11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN11 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P044126:  view genomic region     (about GC identifiers)

Start:
44,126,548 bp from pter      End:
44,152,139 bp from pter
Size:
25,592 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CAN11_HUMAN, Q9UMQ6 (See protein sequence)
Recommended Name: Calpain-11  
Size: 739 amino acids; 84423 Da
Subunit: Heterodimer of a large (catalytic) and a small (regulatory) subunit
Sequence caution: Sequence=AAH33733.1; Type=Erroneous initiation; Sequence=BAG36761.1; Type=Erroneous initiation;
Sequence=CAB52137.1; Type=Erroneous initiation;
Secondary accessions: B2RA64 Q5T3G1 Q8N4R5

Explore the universe of human proteins at neXtProt for CAPN11: NX_Q9UMQ6

Explore proteomics data for CAPN11 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CAPN11 (Q9UMQ6) (see all 11)
     YAGIFHF  PSTFEPH  KLVFVHS  YEALSGG 


    See CAPN11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008989.2  
    ENSEMBL proteins: 
     ENSP00000432420   ENSP00000381758   ENSP00000431963   ENSP00000441078  

    CAPN11 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CAPN11
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    Novus Biologicals CAPN11 Proteins
    Novus Biologicals CAPN11 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CAPN11

    CAPN11 Antibody Products:

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    CAPN11 Assay Products:

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    Cloud-Clone Corp. CLIAs for CAPN11


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 8):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR001300 Peptidase_C2_calpain_cat
     IPR018247 EF_Hand_1_Ca_BS
     IPR000169 Pept_cys_AS

    Graphical View of Domain Structure for InterPro Entry Q9UMQ6

    ProtoNet protein and cluster: Q9UMQ6

    1 Blocks protein domain: IPB001300 Calpain cysteine protease (C2) family signature

    UniProtKB/Swiss-Prot: CAN11_HUMAN, Q9UMQ6
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 calpain catalytic domain
    Similarity: Contains 2 EF-hand domains


    CAPN11 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAN11_HUMAN, Q9UMQ6
    Function: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates
    involved in cytoskeletal remodeling and signal transduction
    Catalytic activity: Broad endopeptidase specificity

         Genatlas biochemistry entry for CAPN11:
    calpain 11,large polypeptide 11,calcium dependent,neutral cysteine proteinase,papain superfamily expressed in the
    testis

         Enzyme Numbers (IUBMB): EC 3.4.22.542 EC 3.4.222 EC 3.4.22.522 EC 3.4.22.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IBA--
    GO:0005509calcium ion binding IEA--
    GO:0008233peptidase activity TAS10409436
         
    CAPN11 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPN11
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAPN11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN11
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAPN11

    miRNA
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    miRTarBase miRNAs that target CAPN11:
    hsa-mir-335-5p (MIRT016936), hsa-mir-124-3p (MIRT022184)

    Block miRNA regulation of human, mouse, rat CAPN11 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CAPN11:
    hsa-miR-922
    SwitchGear 3'UTR luciferase reporter plasmidCAPN11 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CAPN11
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN11

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CAPN11 (NM_007058)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN11

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN11


    (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
    CAN11_HUMAN, Q9UMQ6: Cytoplasmic vesicle, secretory vesicle, acrosome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--

    CAPN11 for ontologies           About GeneDecksing


    (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 CAPN11 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
    3ERK Signaling
    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 GeneGlobe Pathway Central Maps for CAPN11
        Caspase Cascade
    ERK Signaling
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling
    nNOS Signaling in Skeletal Muscle

    1 Tocris Bioscience Pathway for CAPN11
        Apoptosis Pathway

    1 BioSystems Pathway for CAPN11
        Integrin-mediated cell adhesion


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CAPN11
    Interactions:

        Search GeneGlobe Interaction Network for CAPN11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for CAPN11 (ENSP000003817584) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN12ENSP000003316364STRING: ENSP00000331636
    PSMA3ENSP000002164554STRING: ENSP00000216455
    ANAPC11ENSP000003499574STRING: ENSP00000349957
    PRKAR1AENSP000003514104STRING: ENSP00000351410
    UNGENSP000002425764STRING: ENSP00000242576
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IBA--

    CAPN11 for ontologies           About GeneDecksing



    (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 

    Compounds for CAPN11 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]

    1 HMDB Compound for CAPN11    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CAPN11 gene: 
    NM_007058.3  

    Unigene Cluster for CAPN11:

    Calpain 11
    Hs.225953  [show with all ESTs]
    Unigene Representative Sequence: BC033733
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532171 ENST00000398776(uc003owt.1 uc011dvn.2) ENST00000526118
    ENST00000524554 ENST00000533604 ENST00000542245

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CAPN11 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CAPN11:
    hsa-miR-922
    SwitchGear 3'UTR luciferase reporter plasmidCAPN11 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CAPN11
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN11
    Clone
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    OriGene clones in human, mouse for CAPN11 (see all 9)
    OriGene ORF clones in mouse, rat for CAPN11
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAPN11 (NM_007058)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN11
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CAPN11
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAPN11
      QuantiTect SYBR Green Assays in human, mouse, rat CAPN11
      QuantiFast Probe-based Assays in human, mouse, rat CAPN11

    Additional mRNA sequence: 

    AJ242832.1 AK300107.1 AK314054.1 BC033733.1 

    4 DOTS entries:

    DT.92032960  DT.121312846  DT.121312873  DT.121312848 

    15 AceView cDNA sequences:

    BX280178 BQ925378 BI825216 BP371443 BI828421 AJ242832 BX345175 BC033733 
    NM_007058 BM554389 BG721593 CD243920 BI460638 BI850928 BI559807 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAPN11 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                          -                                                                       -                       -                                 
    SP2:              -                                                                                                                                             
    SP3:              -           -                                                                                                                                 
    SP4:              -           -                                                                                                                                 
    SP5:                          -                                                                                                                                 

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for CAPN11

    (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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    CAPN11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGCTGTCC
    CAPN11 Expression
    About this image

    CAPN11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPN11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.225953

    UniProtKB/Swiss-Prot: CAN11_HUMAN, Q9UMQ6
    Tissue specificity: Highest expression in testis

        Custom PCR Arrays for CAPN11
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    QuantiFast Probe-based Assays in human, mouse, rat CAPN11
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN11

    (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 animals.

    Orthologs for CAPN11 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn111 , 5 calpain 111, 5 79.6(n)1
    74.19(a)1
      17 (22.59 cM)5
    2689581  NM_001013767.21  NP_001013789.11 
     456302045 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:859326
    zgc:85932
    35(a)
    many ↔ many
    15(42180514-42237315) ENSDARG00000055094
    fruit fly
    (Drosophila melanogaster)
    Insecta CalpA3 actin cytoskeleton organization and
    biogenesis more
    47(a)
    (best of 3)
      56D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea clp-73   -- 43(a)
    (best of 3)
      IV(1435632-1445971)   --


    ENSEMBL Gene Tree for CAPN11 (if available)
    TreeFam Gene Tree for CAPN11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CAPN11 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN132  CAPN12  CAPN52  CAPN92  
    CAPN32  CAPNS22  CAPN22  CAPN122  CAPN102  
    14 SIMAP similar genes for CAPN11 using alignment to 4 protein entries:     CAN11_HUMAN (see all proteins):
    CAPN2    CAPN1    CAPN8    CAPNS2    CAPNS1    CAPN9
    CAPN3    CAPN12    CAPN14    GCA    CAPN5    SRI
    CAPN13    CAPN6

    CAPN11 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), 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 CAPN11 (see all 825)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763114541,2
    F--44124663(+) GCCTGT/ATTTCC 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1906522041,2
    --44124766(+) TTAGCC/TGAGAC 1 -- us2k10--------
    rs1153424451,2
    C,F--44124948(+) ACACCC/TGTGCC 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs93949871,2
    C,F,A,H--44124954(+) GTGCCT/CGCCTG 1 -- us2k17Minor allele frequency- C:0.42WA NA CSA EA 366
    rs1162953221,2
    C,F--44124964(+) GCACCC/TTACCC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs77537071,2
    C,H--44125104(+) TGGGGG/TCAGCA 1 -- us2k14Minor allele frequency- T:0.00NS EA 410
    rs1169833871,2
    F--44125117(+) AGATAC/GGGATA 1 -- us2k11Minor allele frequency- G:0.01EA 120
    rs1379728711,2
    --44125140(+) ATGGCC/TGGGCA 1 -- us2k10--------
    rs1135108681,2
    C,F--44125143(+) GCCGGG/ACACGG 1 -- us2k12Minor allele frequency- A:0.17CSA WA 120
    rs1435436711,2
    --44125172(+) CTAGCA/GCTTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CAPN11 (44126548 - 44152139 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CAPN11 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2292197CNV Deletion18987734
    esv2732009CNV Deletion23290073
    esv1646210CNV Deletion17803354
    esv2732004CNV Deletion23290073
    dgv1050e201CNV Deletion23290073
    esv2732011CNV Deletion23290073
    esv2732007CNV Deletion23290073
    esv2732005CNV Deletion23290073
    esv1158501CNV Deletion17803354
    esv2732008CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604822    OMIM disorders: --

    3 diseases for CAPN11:    
    About MalaCards
    muscular dystrophy    alzheimer's disease    endotheliitis


    CAPN11 for disorders           About GeneDecksing


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

    Export disorders for CAPN11 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 CAPN11 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with CAPN11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CAPN11: a calpain with high mRNA levels in testis and located on chromosome 6. (PubMed id 10409436)1, 2, 3, 9 Dear T.N.... Boehm T. (Genomics 1999)
    2. 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)
    3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    4. Calpain 11 is unique to mouse spermatogenic cells. (PubMed id 16541461)1 Ben-Aharon I....Eddy E.M. (Mol. Reprod. Dev. 2006)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Calpain-calpastatin: a novel, complete calcium-dependent protease system in human spermatozoa. (PubMed id 10340998)1 Rojas F.J....Moretti-Rojas I. (Mol. Hum. Reprod. 1999)
    10. Calpain: new perspectives in molecular diversity and physiological-pathological involvement. (PubMed id 8070630)1 Saido T.C....Suzuki K. (FASEB J. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 11131 HGNC: 1478 AceView: CAPN11 Ensembl:ENSG00000137225 euGenes: HUgn11131
    ECgene: CAPN11 H-InvDB: CAPN11

    (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 CAPN11 Pharmacogenomics, SNPs, Pathways

    (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 CAPN11 gene:
    Search GeneIP for patents involving CAPN11

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



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