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

CAPN5 Gene

protein-coding   GIFtS: 65
GCID: GC11P076777

calpain 5
 Explore 18 diseases affiliated with
CAPN5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CAPN5    

Aliases
for CAPN5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Calpain 51 2     Calpain-51
NCL-31     EC 3.4.22.-3
HTRA31 2 5     NCL33
Calpain Htra-32 3     EC 3.4.228
New Calpain 32 3     EC 3.4.22.548

External Ids:    HGNC: 14821   Entrez Gene: 7262   Ensembl: ENSG000001492607   OMIM: 6025375   UniProtKB: O154843   

Export aliases for CAPN5 gene to outside databases

Previous GC identifers: GC11P079104 GC11P078317 GC11P077000 GC11P076504 GC11P076455 GC11P073075


Summaries
for CAPN5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CAPN5:
Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A
functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of
the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the
significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3.
(provided by RefSeq, Jul 2008)

summary for CAPN5:
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).

Gene Wiki entry for CAPN5


Genomic Views
for CAPN5 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAPN5 gene promoter:
         AhR   STAT1   AP-1   E47   Arnt   AREB6   Ik-2   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CAPN5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CAPN5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPN5


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

Entrez Gene cytogenetic band: 11q14   Ensembl cytogenetic band:  11q13.5   HGNC cytogenetic band: 11q14

CAPN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P076777:  view genomic region     (about GC identifiers)

Start:
 76,777,979 bp from pter      End:
 76,837,201 bp from pter
Size:
 59,223 bases      Orientation:
 plus strand

Proteins
for CAPN5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CAN5_HUMAN, O15484 (See protein sequence)
Recommended Name: Calpain-5  
Size: 640 amino acids; 73169 Da
Secondary accessions: O00263

Explore the universe of human proteins at neXtProt for CAPN5: NX_O15484

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15484

    • 4/7 DME Specific Peptides for CAPN5 (O15484) (see all 7)
     RLRNPWG  LVKGHAY  YAGIFHF  EWNGPWSD 

    CAPN5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004046.2  
    ENSEMBL proteins: 
     ENSP00000467244   ENSP00000278559   ENSP00000435894   ENSP00000432332   ENSP00000409996  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: CAPN5
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    Novus Biologicals CAPN5 Proteins
    Novus Biologicals CAPN5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CAPN5

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--


    CAPN5 for ontologies           About GeneDecksing



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    Assay Products for CAPN5: 
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    Uscn ELISAs and CLIAs for CAPN5

    Protein Domains /
    Families
    for CAPN5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CAPN5 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001300 Peptidase_C2_calpain_cat
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000169 Pept_cys_AS
     IPR022684 Calpain_cysteine_protease
     IPR022683 Calpain_III

    Graphical View of Domain Structure for InterPro Entry O15484

    ProtoNet protein and cluster: O15484

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


    UniProtKB/Swiss-Prot: CAN5_HUMAN, O15484
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 calpain catalytic domain


    Function
    for CAPN5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CAN5_HUMAN, O15484
    Catalytic activity: Broad endopeptidase specificity

         Genatlas biochemistry entry for CAPN5:
    calpain,class B,large polypeptide,calcium independent cysteine proteinase,papain superfamily,nCL-3 type,specifically
    expressed in colon,small intestine,testis homolog to C elegans sex determination gene tra3

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAPN5
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPN5 (see all 34):
    hsa-miR-579 hsa-miR-3194-5p hsa-miR-938 hsa-miR-30d hsa-miR-650 hsa-miR-449a hsa-miR-30a hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmid: CAPN5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAPN5 (see all 7)
    OriGene shRNA RFP: CAPN5
    OriGene siRNA: CAPN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPN5

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAPN5 (see all 3)
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    Sino Biological Human cDNA Clone for CAPN5
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN5 

    Cell Line
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    Search LifeMap BioReagents cell lines for CAPN5

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN5

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IEA--


    CAPN5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CAPN5:
     Decreased number of cells in m 

    Animal Models:
         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Capn5):
     behavior/neurological  growth/size  hematopoietic system  immune system  mortality/aging 

    CAPN5 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CAPN5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    		nNOS Signaling in Skeletal Muscle0.37
    		Calpain Protease Regulates Cellular Mechanics0.22
    		Caspase Cascade0.24
    2Apoptosis Pathway
    		Apoptosis Pathway1.00
    3Integrin Pathway
    		FAK1 Signaling0.67
    4Rho Family GTPases
    		ERK Signaling0.61
    5Focal Adhesion
    		Integrin-mediated cell adhesion0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAPN5
        Caspase Cascade
    ERK Signaling
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling
    nNOS Signaling in Skeletal Muscle

    1 Tocris Bioscience Pathway for CAPN5
        Apoptosis Pathway

    1 BioSystems Pathway for CAPN5 
        Integrin-mediated cell adhesion


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CAPN5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for CAPN5 (O154843 ENSP000002785594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406923I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development ----
    GO:0001553luteinization ----
    GO:0006508proteolysis IEA--
    GO:0007165signal transduction TAS9339374
    GO:0060014granulosa cell differentiation ----


    CAPN5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CAPN5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for CAPN5:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CAPN5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CalpeptinCalpain and cathepsin L inhibitor[117591-20-5]
    Acetyl-Calpastatin (184-210) (human)Selective calpain inhibitor[123714-50-1]
    MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
    MG 132Proteasome and calpain inhibitor. Inhibits NF-kappaB activation[133407-82-6]
    MG 101Calpain inhibitor; activates p53-dependent apoptosis[110044-82-1]
    Search CenterWatch for drugs/clinical trials and news about CAPN5 / CAN5 

    Transcripts
    for CAPN5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CAPN5 gene: 
    NM_004055.4  

    Unigene Cluster for CAPN5:

    Calpain 5
    Hs.248153  [show with all ESTs]
    Unigene Representative Sequence: NM_004055
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531028 ENST00000278559(uc001oxx.3 uc009yup.3 uc009yuq.3 uc001oxy.3 uc001oya.3)
    ENST00000527066 ENST00000529629 ENST00000456580 ENST00000533889 ENST00000527129


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAPN5
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPN5 (see all 34):
    hsa-miR-579 hsa-miR-3194-5p hsa-miR-938 hsa-miR-30d hsa-miR-650 hsa-miR-449a hsa-miR-30a hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmid: CAPN5 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAPN5 (see all 7)
    OriGene shRNA RFP: CAPN5
    OriGene siRNA: CAPN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPN5
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAPN5
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    GenScript: all cDNA clones in your preferred vector: CAPN5 (NM_004055)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN5 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CAPN5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAPN5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPN5

    Additional cDNA sequence: 

    AB209087.1 AK092880.1 AK094150.1 AK310978.1 AK313132.1 BC018123.1 HQ013241.1 S71614.1 
    U94346.1 Y10552.1 

    9 DOTS entries:

    DT.100775674  DT.97808190  DT.100775670  DT.95174533  DT.100775673  DT.95325157  DT.100036072  DT.120758100 
    DT.120758125 

    24/179 AceView cDNA sequences (see all 179):

    BU627316 NM_004055 BM679546 BQ896847 F08297 BM721120 AI475158 BE858417 
    BM701961 BF436865 F09011 AI266438 AI802546 BM798667 CB160553 F02396 
    AA429557 AI572191 BC018123 BU729627 AL528165 BM757026 AI684512 AI222834 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CAPN5 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CAPN5

    Expression
    for CAPN5 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CAPN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGCCACCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CAPN5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CAPN5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAPN5

    SOURCE GeneReport for Unigene cluster: Hs.248153

    UniProtKB/Swiss-Prot: CAN5_HUMAN, O15484
    Tissue specificity: Expressed in many tissues

        SABiosciences Expression via Pathway-Focused PCR Array including CAPN5: 
              Necrosis in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPN5
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN5

    Orthologs
    for CAPN5 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CAPN5 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CAPN51 calpain 5 76.79(n)
    79.81(a)    		   419086  XM_417278.2  XP_417278.2 
    African clawed frog
    (Xenopus laevis)    		 Amphibia capn5-prov2 calpain 5 76.42(n)    BC048218.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1000063321 calpain-5-like 70.85(n)
    72.06(a)    		   100006332  XM_001345078.2  XP_001345114.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea clp-73
    tra-31    		 Protein TRA-31 40(a)
    (best of 3)3
    46.13(n)1
    41.83(a)1    		   IV(1435632-1445971)3
    1783851  NM_070350.31  NP_502751.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATDEK16
    		 calpain-type cysteine protease
    		 6(a)
    		 1 → many
    		 1(20653820-20665095)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 calpain, putative, expressed
    		 6(a)
    		 1 → many
    		 2(29335385-29352022)


    ENSEMBL Gene Tree for CAPN5 (if available)
    TreeFam Gene Tree for CAPN5 (if available) 

    Paralogs
    for CAPN5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPN5 gene
    CAPN62  CAPN82  CAPN142  CAPN132  CAPN92  CAPN12  CAPN32  CAPN22  
    CAPN72  CAPN122  SOLH2  CAPN112  CAPN102  
    8 SIMAP similar genes for CAPN5 using alignment to 4 protein entries:     CAN5_HUMAN (see all proteins):
    CAPN6    CAPN2    CAPN9    CAPN11    CAPN8    CAPN14
    CAPN3    CAPN1

    CAPN5 for paralogs           About GeneDecksing



    Genomic Variants
    for CAPN5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1089 NCBI SNPs in CAPN5 are shown (see all 1089)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs124173721,2
    		H--73134916(+) GCTGGC/GTTAGA 3 -- us2k10--------
    rs108993531,2
    		C,F,A,H,--73134924(+) AGAGAC/TGGCCT 3 -- us2k130Minor allele frequency- T:0.13NS EA NA WA 3198
    rs108993481,2
    		C,F,A,H,--76776129(+) GGAATA/GAGGTT 1 -- us2k111Minor allele frequency- G:0.36NA WA CSA EA 373
    rs1907146781,2
    		--76776159(+) GATGGC/GGTGCA 1 -- us2k10--------
    rs1399036401,2
    		--76776247(+) TGAGGC/GGGCTG 1 -- us2k10--------
    rs19440311,2
    		C,F,A,--76776393(-) TGAAAA/GGACTC 1 -- us2k12Minor allele frequency- G:0.01MN WA 302
    rs1819192831,2
    		--76776401(+) TCAGGC/GGGAAT 1 -- us2k10--------
    rs19440301,2
    		F,--76776439(-) GTGCTC/TATTTA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1142398471,2
    		F,--76776461(+) AGAAGG/TTAATT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1869924551,2
    		--76776496(+) AATAAA/GTTAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CAPN5 (76777979 - 76837201 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CAPN5: --
    Human Gene Mutation Database (HGMD): CAPN5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CAPN5
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN5

    Disorders / Diseases
    for CAPN5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CAPN5 for disorders           About GeneDecksing

    OMIM gene information: 602537    OMIM disorders: --

    18 diseases for CAPN5:    About MalaCards
    muscular dystrophy    gastric cancer    alzheimer's disease    ceroid lipofuscinosis
    neuronal ceroid-lipofuscinosis    polycystic ovary syndrome    papillary thyroid carcinoma    diabetes mellitus
    thyroid carcinoma    hermaphroditism    thyroiditis    obesity
    neurodegeneration    endometriosis    atherosclerosis    carcinoma
    cholesterol    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CAPN5:
    Neuronal ceroid lipofuscinosis

    2 Novoseek disease relationships for CAPN5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 43.9 1 16396936 (1)
    obesity 35.5 4 17151322 (1), 16396936 (1), 18657264 (1)

    Human Genome Epidemiology (HuGE) Navigator: CAPN5 (8 documents)

    Export disorders for CAPN5 gene to outside databases

    Publications
    for CAPN5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CAPN5 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with CAPN5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel, tissue-specific calpain htra-3; a human homologue of the Caenorhabditis elegans sex determination gene. (PubMed id 9367857)1, 2, 3, 9 Mugita N....Nakao M. (1997)
    2. A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. (PubMed id 9339374)1, 2, 9 Dear N....Boehm T. (1997)
    3. Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily. (PubMed id 9503024)1, 3, 9 Matena K....Dear N. (1998)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Molecular cloning and characterization of rat and human calpain-5. (PubMed id 15464980)1, 9 Waghray A....Wang K.K. (2004)
    6. Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels. (PubMed id 17227582)1, 9 Saez M.E....Serrano-Rios M. (2007)
    7. Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome. (PubMed id 16396936)1, 9 Gonzalez A....Ramirez-Lorca R. (2006)
    8. Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity. (PubMed id 18657264)1, 9 Saez M.E....Serrano-Rios M. (2008)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for CAPN5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CAPN5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 726 HGNC: 1482 AceView: CAPN5 Ensembl:ENSG00000149260 euGenes: HUgn726
    ECgene: CAPN5 H-InvDB: CAPN5

    Other Databases showing CAPN5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CAPN5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CAPN5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CAPN5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CAPN5 gene:
    Search GeneIP for patents involving CAPN5

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



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