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CAPN7 Gene

protein-coding   GIFtS: 61
GCID: GC03P015222

Calpain 7

  Search for CAPN7
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 71 2     CALPAIN72
PALBH2 3 5     calpain-72
Calpain Like Protease1 2     EC 3.4.22.-3
Homolog Of Aspergillus Nidulans PALB1 2     PalBH3
PalB Homolog2 3     EC 3.4.228

External Ids:    HGNC: 14841   Entrez Gene: 234732   Ensembl: ENSG000001313757   OMIM: 6064005   UniProtKB: Q9Y6W33   

Export aliases for CAPN7 gene to outside databases

Previous GC identifer: GC03P015177


(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 CAPN7 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
function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to
diverge from other family members. The mouse orthologue is thought to be calcium independent with protease
activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for CAPN7 Gene:
CAPN7 (calpain 7) is a protein-coding gene. GO annotations related to this gene include MIT domain binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN15.

UniProtKB/Swiss-Prot: CAN7_HUMAN, Q9Y6W3
Function: Calcium-regulated non-lysosomal thiol-protease (By similarity)

summary for CAPN7 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 at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAPN7 gene promoter:
         COUP-TF1   HTF   COUP   Pax-2   HNF-4alpha2   Pax-2a   HNF-4alpha1   YY1   COUP-TF   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN7 promoter sequence
   Search Chromatin IP Primers for CAPN7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN7


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

Entrez Gene cytogenetic band: 3p24   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p24

CAPN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN7 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P015222:  view genomic region     (about GC identifiers)

Start:
15,247,659 bp from pter      End:
15,294,425 bp from pter
Size:
46,767 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAN7_HUMAN, Q9Y6W3 (See protein sequence)
Recommended Name: Calpain-7  
Size: 813 amino acids; 92652 Da
1 PDB 3D structure from and Proteopedia for CAPN7:
2QFE (3D)    

Explore the universe of human proteins at neXtProt for CAPN7: NX_Q9Y6W3

Explore proteomics data for CAPN7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys130, Lys217, Lys320, Lys419, Lys503
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for CAPN7 (Q9Y6W3)
     GQSAGGC  GGYDFPGSNS 


    See CAPN7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055111.1  
    ENSEMBL proteins: 
     ENSP00000415482   ENSP00000389786   ENSP00000253693   ENSP00000399486   ENSP00000394708  

    CAPN7 Human Recombinant Protein Products:

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    Novus Biologicals CAPN7 Protein
    Novus Biologicals CAPN7 Lysate
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    Cloud-Clone Corp. Proteins for CAPN7

     
    Search eBioscience for Proteins for CAPN7 

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    CAPN7 Assay Products:

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    Cloud-Clone Corp. ELISAs for CAPN7
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    Search eBioscience for ELISAs for CAPN7 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001300 Peptidase_C2_calpain_cat
     IPR022684 Calpain_cysteine_protease
     IPR022683 Calpain_III
     IPR022682 Calpain_domain_III
     IPR007330 MIT

    Graphical View of Domain Structure for InterPro Entry Q9Y6W3

    ProtoNet protein and cluster: Q9Y6W3

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

    UniProtKB/Swiss-Prot: CAN7_HUMAN, Q9Y6W3
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 calpain catalytic domain


    Find genes that share domains with CAPN7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAN7_HUMAN, Q9Y6W3
    Function: Calcium-regulated non-lysosomal thiol-protease (By similarity)
    Catalytic activity: Broad endopeptidase specificity

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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IDA--
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IBA--
    GO:0005515protein binding IPI--
    GO:0090541MIT domain binding IPI--
         
    Find genes that share ontologies with CAPN7           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CAPN7:
     Decreased focal adhesion (FA)  

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Capn7):
     behavior/neurological  growth/size/body  integument  mortality/aging 

    Find genes that share phenotypes with CAPN7           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPN7
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN7
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    miRNA
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    miRTarBase miRNAs that target CAPN7:
    hsa-mir-877-3p (MIRT036820)

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    Selected qRT-PCR Assays for microRNAs that regulate CAPN7 (see all 35):
    hsa-miR-411* hsa-miR-142-5p hsa-miR-548j hsa-miR-579 hsa-miR-379* hsa-miR-548k hsa-miR-128 hsa-miR-29a
    SwitchGear 3'UTR luciferase reporter plasmidCAPN7 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAN7_HUMAN, Q9Y6W3: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    endosome1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CAPN7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CAPN7 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 CAPN7
        Caspase Cascade
    ERK Signaling
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling
    nNOS Signaling in Skeletal Muscle

    1 Tocris Bioscience Pathway for CAPN7
        Apoptosis Pathway

    1 BioSystems Pathway for CAPN7
        Integrin-mediated cell adhesion


        Pathway & Disease-focused RT2 Profiler PCR Array including CAPN7: 
              Necrosis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CAPN7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for CAPN7 (Q9Y6W31, 2, 3 ENSP000002536934) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IST1P539901, 2, 3, ENSP000003304084EBI-1765641,EBI-945994 MINT-7990176 MINT-7990213 MINT-7990252 MINT-7990193 MINT-7990233 I2D: score=1 STRING: ENSP00000330408
    VHLENSP000002564744STRING: ENSP00000256474
    PSMA3ENSP000002164554STRING: ENSP00000216455
    PPCDCENSP000003431904STRING: ENSP00000343190
    CHMP4AENSP000003242054STRING: ENSP00000324205
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0010634positive regulation of epithelial cell migration IDA--
    GO:0097264self proteolysis IDA--

    Find genes that share ontologies with CAPN7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    9 ApexBio Compounds for CAPN7     About this table
    CompoundAction CAS #
    Acetyl-Calpastatin (184-210) (human)Selective calpain inhibitor[123714-50-1]
    Calpain Inhibitor I, ALLNA cell-permeable inhibitor of calpain I, calpain II, cathepsin B, and cathepsin L. [110044-82-1]
    Calpain Inhibitor II, ALLMA cell-permeable inhibitor of calpain 1 and calpain 2[136632-32-1]
    CalpeptinPotent, cell-permeable inhibitor of calpain[117591-20-5]
    E-64Irriversible cysteine protease inhibitor[66701-25-5]
    MDL 28170Potent, selective inhibitor of calpain and cathepsin B[88191-84-8]
    MG-132Proteasome and calpain inhibitor[133407-82-6]
    PD 150606Selective, cell-permeable non-peptide calpain inhibitor[179528-45-1]
    Z-FA-FMKAn inhibitor of cysteine proteases, such as cathepsin B--

    Compounds for CAPN7 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 CAPN7    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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CAPN7 gene: 
    NM_014296.2  

    Unigene Cluster for CAPN7:

    Calpain 7
    Hs.595234  [show with all ESTs]
    Unigene Representative Sequence: NM_014296
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418994 ENST00000457023 ENST00000253693(uc003bzn.3) ENST00000415565
    ENST00000443567 ENST00000463417 ENST00000472400
    miRNA
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    hsa-miR-411* hsa-miR-142-5p hsa-miR-548j hsa-miR-579 hsa-miR-379* hsa-miR-548k hsa-miR-128 hsa-miR-29a
    SwitchGear 3'UTR luciferase reporter plasmidCAPN7 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CAPN7

    Additional mRNA sequence: 

    AB028639.1 AK093742.1 AK314253.1 BC056202.1 

    8 DOTS entries:

    DT.447313  DT.40290519  DT.95163604  DT.100777683  DT.120881922  DT.75108215  DT.95192597  DT.75111990 

    Selected AceView cDNA sequences (see all 152):

    AI139178 BM141999 NM_014296 AA810513 BX110741 AV707980 AA283709 CA944664 
    AI768958 AA371043 BE349145 BM542920 CB241678 AA305106 BE502553 BU733879 
    AK093742 AW471155 AW874050 BM715156 AI636694 BQ921616 W32547 BM709831 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CAPN7    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a ·
    SP1:                    -                                                                                                     -           -                     
    SP2:                    -     -                                                                                                                                 
    SP3:                                                                                                                                      -                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22b · 22c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CAPN7

    (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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    CAPN7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATTCCCA
    CAPN7 Expression
    About this image

    CAPN7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPN7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.595234

    UniProtKB/Swiss-Prot: CAN7_HUMAN, Q9Y6W3
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including CAPN7: 
              Necrosis in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CAPN7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN7

    (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 CAPN7 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn71 , 5 calpain 71, 5 89.79(n)1
    95.2(a)1
      14 (19.10 cM)5
    123391  NM_009796.21  NP_033926.11 
     313366385 
    chicken
    (Gallus gallus)
    Aves CAPN71 calpain 7 79.19(n)
    83.74(a)
      420683  XM_418783.4  XP_418783.3 
    lizard
    (Anolis carolinensis)
    Reptilia CAPN76
    calpain 7
    84(a)
    1 ↔ 1
    6(36574448-36603520)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157452 Xenopus laevis transcribed sequence with moderate similarity more 74.23(n)    BJ091178.1 
    zebrafish
    (Danio rerio)
    Actinopterygii capn71 calpain 7 70.52(n)
    77.12(a)
      556792  NM_001135108.2  NP_001128580.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0108341 AgaP_AGAP010834 51.99(n)
    51.28(a)
      1271128  XM_309874.4  XP_309874.4 
    worm
    (Caenorhabditis elegans)
    Secernentea clp-21 , 3 Calpain thiol protease3
    clp-21
    41(a)3
    52.37(n)1
    43.77(a)1
      III(4772238-4775805)3
    1756181  NM_065563.31  NP_497964.11 


    ENSEMBL Gene Tree for CAPN7 (if available)
    TreeFam Gene Tree for CAPN7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CAPN7 gene
    CAPN152  

    Find genes that share paralogs with CAPN7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CAPN7 (see all 989)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889283741,2
    --15249476(+) TGTGTA/GTGGTA 1 -- int10--------
    rs1820643271,2
    --15249766(+) TAGCTG/TCACAG 1 -- int10--------
    rs1861586451,2
    --15249847(+) AGTGCC/TGTGGC 1 -- int10--------
    rs1898805571,2
    C--15249899(+) AAGCAA/GTCCTC 1 -- int10--------
    rs1390830461,2
    --15249953(+) CACACC/TTGGCT 1 -- int10--------
    rs347938671,2
    C--15249984(+) TTTTGG/TGTAGA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1128208571,2
    C--15250000(+) AGTCTC/TGCTGT 1 -- int13Minor allele frequency- T:0.05NA EA 242
    rs731429271,2
    C,F--15250193(+) TTTATA/GACTAA 1 -- int12Minor allele frequency- G:0.21WA 120
    rs21332881,2
    C,F,A,H--15250264(+) aattgA/Gtaaat 1 -- int116Minor allele frequency- G:0.14NS EA NA WA CSA 1474
    rs1808231001,2
    --15250267(+) TGATAA/GATCAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CAPN7 (15247659 - 15294425 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CAPN7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2548358CNV Insertion19546169
    esv271990CNV Insertion20981092
    esv273698CNV Insertion20981092
    nsv237085CNV Loss16902084
    nsv525308CNV Loss19592680
    nsv428413CNV Gain18775914

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CAPN7
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606400    OMIM disorders: --


    Find genes that share disorders with CAPN7           About GenesLikeMe

    Genetic Association Database (GAD): CAPN7

    Export disorders for CAPN7 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 CAPN7 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with CAPN7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of PalBH, a mammalian homologue of the Aspergillus atypical calpain PalB. (PubMed id 11342116)1, 2, 9 Futai E.... Maeda T. (Biochim. Biophys. Acta 2001)
    2. Capn7: a highly divergent vertebrate calpain with a novel C-terminal domain. (PubMed id 10051333)1, 3 Franz T....Dear T.N. (Mamm. Genome 1999)
    3. New era of calpain research. Discovery of tissue-specific calpains. (PubMed id 8163008)1, 3 Sorimachi H....Suzuki K. (FEBS Lett. 1994)
    4. Analysis of limited proteolytic activity of calpain-7 using non-physiological substrates in mammalian cells. (PubMed id 23497113)1 Maemoto Y....Maki M. (FEBS J. 2013)
    5. CAPN 7 promotes the migration and invasion of human endometrial stromal cell by regulating matrix metalloproteinase 2 activity. (PubMed id 23855590)1 Liu H....Sun H. (amp 2013)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. (PubMed id 22488850)4 Zuo L....Luo X. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012)
    8. Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. (PubMed id 21956439)4 Zuo L....Luo X. (Neuropsychopharmacology 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (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)
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    Entrez Gene: 23473 HGNC: 1484 AceView: CAPN7 Ensembl:ENSG00000131375 euGenes: HUgn23473
    ECgene: CAPN7 H-InvDB: CAPN7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CAPN7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CAPN7 gene:
    Search GeneIP for patents involving CAPN7

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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