Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CAPN13 Gene

protein-coding   GIFtS: 54
GCID: GC02M030945

Calpain 13

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Calpain 131 2
Calcium-Activated Neutral Proteinase 132 3
CANP 132 3
calpain-132
EC 3.4.22.-3

External Ids:    HGNC: 166631   Entrez Gene: 922912   Ensembl: ENSG000001629497   OMIM: 6102285   UniProtKB: Q6MZZ73   

Export aliases for CAPN13 gene to outside databases

Previous GC identifers: GC02M030860 GC02M031061 GC02M030938 GC00U916966 GC02M030857 GC02M030799 GC02M030683


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CAPN13 Gene:
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The
mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes
consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory
subunit. This gene encodes a member of the calpain large subunit family. (provided by RefSeq, Jun 2012)

GeneCards Summary for CAPN13 Gene:
CAPN13 (calpain 13) is a protein-coding gene. Diseases associated with CAPN13 include muscular dystrophy, and limb-girdle muscular dystrophy. 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: CAN13_HUMAN, Q6MZZ7
Function: Probable non-lysosomal thiol-protease (By similarity)

summary for CAPN13 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAPN13 gene promoter:
         NF-1   ATF-2   STAT5A   c-Ets-1   HNF-1A   E2F   E2F-1   POU2F1   HNF-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN13 promoter sequence
   Search Chromatin IP Primers for CAPN13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN13


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

Entrez Gene cytogenetic band: 2p22-p21   Ensembl cytogenetic band:  2p23.1   HGNC cytogenetic band: 2p22-p21

CAPN13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN13 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M030945:  view genomic region     (about GC identifiers)

Start:
30,945,637 bp from pter      End:
31,043,408 bp from pter
Size:
97,772 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CAN13_HUMAN, Q6MZZ7 (See protein sequence)
Recommended Name: Calpain-13  
Size: 669 amino acids; 76696 Da
Caution: It is unlikely that this protein binds calcium as none of the 2 EF-hand domains seem to contain a
canonical calcium-binding site
1 PDB 3D structure from and Proteopedia for CAPN13:
2I7A (3D)    
Secondary accessions: Q17RF0 Q580X1 Q8TE80
Alternative splicing: 2 isoforms:  Q6MZZ7-1   Q6MZZ7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CAPN13: NX_Q6MZZ7

Explore proteomics data for CAPN13 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CAPN13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_653176.2  
    ENSEMBL proteins: 
     ENSP00000403180   ENSP00000295055   ENSP00000416191   ENSP00000440723   ENSP00000431298  

    CAPN13 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CAPN13
    OriGene Protein Over-expression Lysate for CAPN13
    OriGene MassSpec for CAPN13
    OriGene Custom Protein Services for CAPN13
    GenScript Custom Purified and Recombinant Proteins Services for CAPN13
    Novus Biologicals CAPN13 Protein
    Novus Biologicals CAPN13 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAPN13

    CAPN13 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CAPN13
    Novus Biologicals CAPN13 Antibody
    Abcam antibodies for CAPN13
    Cloud-Clone Corp. Antibodies for CAPN13
    ThermoFisher Antibodies for CAPN13
    LSBio Antibodies in human, mouse, rat for CAPN13

    CAPN13 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CAPN13
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CAPN13
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CAPN13
    Cloud-Clone Corp. CLIAs for CAPN13


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

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR001300 Peptidase_C2_calpain_cat
     IPR022684 Calpain_cysteine_protease
     IPR022682 Calpain_domain_III

    Graphical View of Domain Structure for InterPro Entry Q6MZZ7

    ProtoNet protein and cluster: Q6MZZ7

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

    UniProtKB/Swiss-Prot: CAN13_HUMAN, Q6MZZ7
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 calpain catalytic domain
    Similarity: Contains 2 EF-hand domains


    CAPN13 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAN13_HUMAN, Q6MZZ7
    Function: Probable non-lysosomal thiol-protease (By similarity)

         Enzyme Number (IUBMB): EC 3.4.22.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IBA--
    GO:0005509calcium ion binding IEA--
         
    CAPN13 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPN13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAPN13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAPN13

    miRNA
    Products:
        
    miRTarBase miRNAs that target CAPN13:
    hsa-mir-148b-3p (MIRT019322), hsa-mir-335-5p (MIRT018063)

    Block miRNA regulation of human, mouse, rat CAPN13 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CAPN13:
    hsa-miR-188-3p hsa-miR-526b
    SwitchGear 3'UTR luciferase reporter plasmidCAPN13 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CAPN13
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN13

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CAPN13

    Clone
    Products:
         
    OriGene clones in human, mouse for CAPN13 (see all 6)
    OriGene ORF clones in mouse, rat for CAPN13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAPN13 (NM_144575)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN13

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CAPN13
    Browse ESI BIO Cell Lines and PureStem Progenitors for CAPN13 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN13


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--

    CAPN13 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CAPN13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Apoptosis Pathway
    Apoptosis Pathway0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Tocris Bioscience Pathway for CAPN13
        Apoptosis Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CAPN13
    Interactions:

        Search GeneGlobe Interaction Network for CAPN13

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

    5 Interacting proteins for CAPN13 (ENSP000002950554) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHARPINENSP000003816984STRING: ENSP00000381698
    PSMA3ENSP000002164554STRING: ENSP00000216455
    CHMP4AENSP000003242054STRING: ENSP00000324205
    CHMP4BENSP000002174024STRING: ENSP00000217402
    CHMP4CENSP000002972654STRING: ENSP00000297265
    About this table

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

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

    CAPN13 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for CAPN13 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 CAPN13    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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CAPN13 gene: 
    NM_144575.2  

    Unigene Cluster for CAPN13:

    Calpain 13
    Hs.660911  [show with all ESTs]
    Unigene Representative Sequence: BX647678
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450650(uc002rnm.3) ENST00000295055(uc021vfn.1 uc021vfm.1)
    ENST00000490786 ENST00000458085(uc002rno.3 uc002rnp.1) ENST00000465450
    ENST00000465960 ENST00000485248 ENST00000534090

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CAPN13 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CAPN13:
    hsa-miR-188-3p hsa-miR-526b
    SwitchGear 3'UTR luciferase reporter plasmidCAPN13 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CAPN13
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN13
    Clone
    Products:
         
    OriGene clones in human, mouse for CAPN13 (see all 6)
    OriGene ORF clones in mouse, rat for CAPN13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAPN13 (NM_144575)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN13
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CAPN13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAPN13
      QuantiTect SYBR Green Assays in human, mouse, rat CAPN13
      QuantiFast Probe-based Assays in human, mouse, rat CAPN13

    Additional mRNA sequence: 

    AK026692.1 AK027176.1 AK074418.1 AK290298.1 AK308037.1 BC117345.1 BC117347.1 BX640793.1 
    BX647678.1 

    4 DOTS entries:

    DT.100018100  DT.97834587  DT.99965032  DT.75106867 

    Selected AceView cDNA sequences (see all 51):

    BU688648 BF509997 AI868165 BF509494 AI554394 AI821097 AW295620 AI687048 
    AW088283 NM_144575 BM975419 AI682008 BM975637 AI821843 AA502614 AW006402 
    CD653793 BF510606 BM127691 BU684715 BM127385 AK027176 BU579691 AK074418 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAPN13 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                -                                                                                                                           
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                    -     -     -                           

    ExUns: 22 ^ 23
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CAPN13

    (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)
    About This Section

    TryGeneCards Plus

    CAPN13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATCTGCAA
    CAPN13 Expression
    About this image

    CAPN13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPN13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660911

    UniProtKB/Swiss-Prot: CAN13_HUMAN, Q6MZZ7
    Tissue specificity: Weakly expressed in lung and testis. Weakly or not expressed in other tissues

        Custom PCR Arrays for CAPN13
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CAPN13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAPN13
    QuantiTect SYBR Green Assays in human, mouse, rat CAPN13
    QuantiFast Probe-based Assays in human, mouse, rat CAPN13
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN13

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for CAPN13 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn131 , 5 calpain 131, 5 75.85(n)1
    67.73(a)1
      17 (44.84 cM)5
    3811221  NM_001033444.21  NP_001028616.11 
     733064645 
    chicken
    (Gallus gallus)
    Aves CAPN131 calpain 13 55.22(n)
    43.71(a)
      421304  XM_004940181.1  XP_004940238.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAPN136
    calpain 13
    39(a)
    1 ↔ 1
    1(250011031-250146104)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia capn131 calpain 13 53.3(n)
    42.03(a)
      493387  NM_001008024.1  NP_001008025.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1368726
    si:ch211-202f3.36
    (see all 4)
    si:ch211-202f3.3
    (see all 4)
    34(a)
    33(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    17(2896812-2939581) ENSDARG00000008553
    17(45744842-45766706) ENSDARG00000052917


    ENSEMBL Gene Tree for CAPN13 (if available)
    TreeFam Gene Tree for CAPN13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CAPN13 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN12  CAPN52  CAPN92  CAPN32  
    CAPNS22  CAPN22  CAPN122  CAPN112  CAPN102  
    7 SIMAP similar genes for CAPN13 using alignment to 4 protein entries:     CAN13_HUMAN (see all proteins):
    CAPN8    CAPN1    CAPN14    CAPN11    CAPN9    CAPN2
    CAPN3

    CAPN13 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CAPN13 (see all 2243)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs102039721,2
    C,F,H--30945271(+) CCCTTG/ACTCCT 1 -- int116Minor allele frequency- A:0.03NS EA NA WA 2078
    rs1892909951,2
    --30945306(+) CAGCCA/CTGTCC 1 -- int10--------
    rs1149418671,2
    C,F--30945328(+) TCCTCC/TGACCG 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1430652801,2
    --30945391(+) CACACA/CCATTT 1 -- int10--------
    rs1474871061,2
    --30945444(+) TTCCAA/GCTGCA 1 -- int10--------
    rs1400542931,2
    --30945504(+) TCCTCC/TGTGGG 1 -- int10--------
    rs1819218751,2
    --30945542(+) CGCACC/TATGGA 1 -- int10--------
    rs1876555371,2
    --30945602(+) CCCCAA/GATGTA 1 -- int10--------
    rs726138441,2
    C,F--30945661(+) ATTTTT/CGCCAT 1 -- ut312Minor allele frequency- C:0.08WA EA 238
    rs1907207671,2
    --30945669(+) CATTTA/CGCTGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CAPN13 (30945637 - 31043408 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CAPN13:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873770CNV Loss21882294
    esv275432CNV Loss21479260
    nsv456019CNV Loss19166990
    nsv833659CNV Gain17160897
    esv9096CNV Gain19470904
    nsv520269CNV Gain19592680

    Human Gene Mutation Database (HGMD): CAPN13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CAPN13
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN13

    (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

    TryGeneCards Plus
    OMIM gene information: 610228    OMIM disorders: --

    4 diseases for CAPN13:    About MalaCards
    muscular dystrophy    limb-girdle muscular dystrophy    alzheimer's disease    hypertension


    CAPN13 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CAPN13
    Human Genome Epidemiology (HuGE) Navigator: CAPN13 (2 documents)

    Export disorders for CAPN13 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

    TryGeneCards Plus

    PubMed articles for CAPN13 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with CAPN13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of two novel calpain large subunit genes. (PubMed id 11675017)1, 2, 3 Dear T.N. and Boehm T. (Gene 2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Gene-environment interaction for hypertension among African American women across generations. (PubMed id 20591971)1, 4 Taylor J.Y....Kardia S.L. (Biol Res Nurs 2010)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    8. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 92291 HGNC: 16663 AceView: CAPN13 Ensembl:ENSG00000162949 euGenes: HUgn92291
    ECgene: CAPN13 H-InvDB: CAPN13

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CAPN13 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for CAPN13 gene:
    Search GeneIP for patents involving CAPN13

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CAPN13  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CAPN13  
     OriGene MassSpec something-or-other for CAPN13   OriGene clones in human, mouse for CAPN13  
     OriGene qSTAR qPCR primer pairs in human, mouse for CAPN13   OriGene Purified Protein for CAPN13  
     OriGene ORF clones in mouse, rat for CAPN13   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CAPN13   OriGene Custom Protein Services for CAPN13  

     
     
     Block miRNA regulation of human, mouse, rat CAPN13 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CAPN13
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN13 Predesigned siRNA for gene silencing in human, mouse, rat CAPN13
     QuantiFast Probe-based Assays in human, mouse, rat CAPN13 QuantiTect SYBR Green Assays in human, mouse, rat CAPN13
     Custom PCR Arrays for CAPN13 Search Chromatin IP Primers for CAPN13
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CAPN13  Search GeneGlobe Interaction Network for CAPN13
     Regulatory tfbs in CAPN13 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CAPN13 GenScript cDNA clones with any tag delivered in your preferred vector for CAPN13
     GenScript Custom Assay Services for CAPN13 GenScript Custom overexpressing Cell Line Services for CAPN13
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Tocris compounds for CAPN13
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CAPN13 antibodies
     CAPN13 proteins
     CAPN13 lysates
     Antibodies for CAPN13
     See all of Abcam's Antibodies, Kits and Proteins for CAPN13
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CAPN13
     Antibodies for CAPN13
     ELISAs for CAPN13
     CLIAs for CAPN13



     Browse ESI BIO Cell Lines and PureStem Progenitors for CAPN13
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN13
     SwitchGear 3'UTR luciferase reporter plasmids for CAPN13
     SwitchGear Promoter luciferase reporter plasmids for CAPN13
     ThermoFisher Antibodies for CAPN13
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN13
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPN13
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAPN13
     LSBio Antibodies in human, mouse, rat for CAPN13
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CAPN13 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4