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

CAPN5 Gene

protein-coding   GIFtS: 66
GCID: GC11P076777

Calpain 5

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

Aliases
Calpain 51 2     calpain-52
Calpain Htra-32 3     EC 3.4.22.-3
New Calpain 32 3     NCL33
nCL-32 3     EC 3.4.228
HTRA32 5     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


(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 Gene:
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)

GeneCards Summary for CAPN5 Gene: 
CAPN5 (calpain 5) is a protein-coding gene. Diseases associated with CAPN5 include neuronal ceroid lipofuscinosis, and gastric cancer, and among its related super-pathways are nNOS Signaling in Skeletal Muscle and Integrin Pathway. GO annotations related to this gene include calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN6.

summary for CAPN5 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).

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
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 plasmidCAPN5 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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

Explore proteomics data for CAPN5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CAPN5 Protein Expression
    REFSEQ proteins: NP_004046.2  
    ENSEMBL proteins: 
     ENSP00000467244   ENSP00000278559   ENSP00000435894   ENSP00000432332   ENSP00000409996  

    Human Recombinant Protein Products for CAPN5: 
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    Novus Biologicals CAPN5 Proteins
    Novus Biologicals CAPN5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAPN5 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--
    GO:0009986cell surface IDA--

    CAPN5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (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 domains:
    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


    CAPN5 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IEA--
    GO:0005515protein binding ----
         
    CAPN5 for ontologies           About GeneDecksing


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

         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAPN5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN5 
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    miRNA
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    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 plasmidCAPN5 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CAPN5 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007165signal transduction TAS9339374

    CAPN5 for ontologies           About GeneDecksing



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

    Compounds for CAPN5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Acetyl-Calpastatin (184-210) (human)Selective calpain inhibitor[123714-50-1]
    MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
    PD 150606Cell permeable calpain inhibitor[179528-45-1]
    MG 132Proteasome and calpain inhibitor. Inhibits NF-kappaB activation[133407-82-6]
    MG 101Calpain inhibitor; activates p53-dependent apoptosis[110044-82-1]

    Search CenterWatch for drugs/clinical trials and news about CAPN5 / CAN5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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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    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 plasmidCAPN5 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN5
    Sirion Biotech Customized lentivirus for stable overexpression of CAPN5 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAPN5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPN5

    Additional mRNA 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):

    BM701961 AI018176 AI684512 CB160553 BM757026 CD514215 AA429557 AI572191 
    BU729627 NM_004055 AI475158 BM798667 BM679546 AI222834 F09011 F08297 
    AI802546 BF436865 BE858417 BC018123 AI266438 BU627316 F02396 AL528165 

    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

    (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 <intensity>2/3
    CGAP TAG: CCTGCCACCC
    CAPN5 Expression
    About this image


    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. Strong expression in the photoreceptor cells of the retina, with a
    punctate pattern of labeling over the nuclei and inner segments with less expression along the other segments and
    outer plexiform layer

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

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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 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 animals.

    Orthologs for CAPN5 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn51 , 5 calpain 51, 5 87.92(n)1
    92.19(a)1
      7 (53.57 cM)5
    123371  NM_007602.31  NP_031628.11 
     981215595 
    chicken
    (Gallus gallus)
    Aves CAPN51 calpain 5 76.79(n)
    79.81(a)
      419086  XM_417278.2  XP_417278.2 
    lizard
    (Anolis carolinensis)
    Reptilia CAPN66
    Uncharacterized protein
    54(a)
    1 ↔ 1
    GL343376.1(266290-321939)
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta CalpC6
    Calpain C
    22(a)
    possible ortholog
    X(16219796-16222556)
    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 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPN5 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN132  CAPN12  CAPN92  CAPN32  
    CAPNS22  CAPN22  CAPN122  CAPN112  CAPN102  
    7 SIMAP similar genes for CAPN5 using alignment to 4 protein entries:     CAN5_HUMAN (see all proteins):
    CAPN6    CAPN2    CAPN9    CAPN11    CAPN8    CAPN14
    CAPN3

    CAPN5 for paralogs           About GeneDecksing



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

    10/1412 SNPs in CAPN5 are shown (see all 1412)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692774
    Vitreoretinopathy, neovascular inflammatory (VRNI)4--see VAR_0692772 R L mis40--------
    VAR_0692784
    Vitreoretinopathy, neovascular inflammatory (VRNI)4--see VAR_0692782 L P mis40--------
    rs38327351,2
    C--73102237(-) CAGAC-/GTGACA
    GACACAGAC
    TTGCT
    1 -- int10--------
    rs1463364481,2
    --73102266(+) TGTCAC/TGTCTC 1 -- int10--------
    rs108993481,2
    C,F,A,H--76641542(+) GGAATA/GAGGTT 1 -- us2k111Minor allele frequency- G:0.36NA WA CSA EA 373
    rs1907146781,2
    --76641572(+) GATGGC/GGTGCA 1 -- us2k10--------
    rs1399036401,2
    C--76641660(+) TGAGGC/GGGCTG 1 -- us2k10--------
    rs19440311,2
    C,F,A--76641806(-) TGAAAA/GGACTC 1 -- us2k12Minor allele frequency- G:0.01MN WA 302
    rs1819192831,2
    --76641814(+) TCAGGC/GGGAAT 1 -- us2k10--------
    rs19440301,2
    C,F--76641852(-) GTGCTC/TATTTA 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for CAPN5 (76777979 - 76837201 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CAPN5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744802CNV Deletion23290073
    esv1254554CNV Deletion17803354
    nsv509434CNV Insertion20534489
    nsv897935CNV Loss21882294
    dgv1225n71CNV Loss21882294
    nsv825998CNV Gain20364138
    nsv825999CNV Gain20364138


    Human Gene Mutation Database (HGMD): CAPN5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CAPN5
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602537    OMIM disorders: --

    UniProtKB/Swiss-Prot: CAN5_HUMAN, O15484
  • Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]: An autoimmune condition of the eye that
    sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to
    complete blindness. Patients present during the second or third decade of life with posterior uveitis and
    reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema,
    and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage
    when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary
    retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative
    vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage
    disease is marked by phthisis. Note=The disease is caused by mutations affecting the gene represented in this
    entry

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

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

    CAPN5 for disorders           About GeneDecksing


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

    2 Novoseek inferred 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)

    Genetic Association Database (GAD): CAPN5
    Human Genome Epidemiology (HuGE) Navigator: CAPN5 (8 documents)

    Export disorders for CAPN5 gene to outside databases

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

    PubMed articles for CAPN5 gene, integrated from 9 sources (see all 27):
    (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. Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels. (PubMed id 17227582)1, 4, 9 Saez M.E....Serrano-Rios M. (2007)
    3. Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome. (PubMed id 16396936)1, 4, 9 Gonzalez A....Ramirez-Lorca R. (2006)
    4. 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, 4, 9 Saez M.E....Serrano-Rios M. (2008)
    5. 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)
    6. 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)
    7. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. (PubMed id 23055945)1, 2 Mahajan V.B.... Stone E.M. (2012)
    8. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (2009)

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

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

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

    (According to HUGE)
    About This Section
      --

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

    (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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    About This Section

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

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