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CAPN10 Gene

protein-coding   GIFtS: 55
GCID: GC02P241526

Calpain 10

  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)
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Aliases
Calpain 101 2     Calpain-Like Protease CAPN102
Calcium-Activated Neutral Proteinase 102 3     EC 3.4.22.-3
NIDDM12 5     KIAA18453
CANP102     CANP 103
calpain-102     

External Ids:    HGNC: 14771   Entrez Gene: 111322   Ensembl: ENSG000001423307   OMIM: 6052865   UniProtKB: Q9HC963   

Export aliases for CAPN10 gene to outside databases

Previous GC identifers: GC02M239919 GC02M240764 GC02P241545 GC02P241846 GC02P241246 GC02P241174 GC02P233282


(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 CAPN10 Gene:
Calpains represent a 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
catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain
activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the
calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it
lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in
organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus
(NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described
for this gene. (provided by RefSeq, Sep 2010)

GeneCards Summary for CAPN10 Gene:
CAPN10 (calpain 10) is a protein-coding gene. Diseases associated with CAPN10 include diabetes mellitus, noninsulin-dependent 1, and polycystic ovary syndrome. GO annotations related to this gene include cytoskeletal protein binding and SNARE binding. An important paralog of this gene is CAPN6.

UniProtKB/Swiss-Prot: CAN10_HUMAN, Q9HC96
Function: Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved
in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake

summary for CAPN10 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 CAPN10 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CAPN10 gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN10 promoter sequence
   Search Chromatin IP Primers for CAPN10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN10


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

CAPN10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN10 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P241526:  view genomic region     (about GC identifiers)

Start:
241,526,133 bp from pter      End:
241,557,122 bp from pter
Size:
30,990 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAN10_HUMAN, Q9HC96 (See protein sequence)
Recommended Name: Calpain-10  
Size: 672 amino acids; 74952 Da
Sequence caution: Sequence=BAB47474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8MVS7 Q4ZFV1 Q8NCD4 Q96IG4 Q96JI2 Q9HC89 Q9HC90 Q9HC91 Q9HC92 Q9HC93
Q9HC94 Q9HC95
Alternative splicing: 8 isoforms:  Q9HC96-1   Q9HC96-2   Q9HC96-3   Q9HC96-4   Q9HC96-5   Q9HC96-6   Q9HC96-7   Q9HC96-8   
(May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CAPN10: NX_Q9HC96

Explore proteomics data for CAPN10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CAPN10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_075571.1  NP_075573.2  

    ENSEMBL proteins: 
     ENSP00000375844   ENSP00000384422   ENSP00000270364   ENSP00000289381   ENSP00000349556  
     ENSP00000400144   ENSP00000270362   ENSP00000270361   ENSP00000375843   ENSP00000407090  
     ENSP00000404064   ENSP00000375842  

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    Cloud-Clone Corp. CLIAs for CAPN10


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR001300 Peptidase_C2_calpain_cat
     IPR000169 Pept_cys_AS
     IPR022684 Calpain_cysteine_protease
     IPR022683 Calpain_III
     IPR022682 Calpain_domain_III

    Graphical View of Domain Structure for InterPro Entry Q9HC96

    ProtoNet protein and cluster: Q9HC96

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

    UniProtKB/Swiss-Prot: CAN10_HUMAN, Q9HC96
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 calpain catalytic domain


    CAPN10 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: CAN10_HUMAN, Q9HC96
    Function: Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved
    in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake
    Catalytic activity: Broad endopeptidase specificity

         Enzyme Number (IUBMB): EC 3.4.22.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding ISS--
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IMP15044459
    GO:0008092cytoskeletal protein binding ISS--
         
    CAPN10 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Capn10):
     adipose tissue  cardiovascular system  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  renal/urinary system 

    CAPN10 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Capn10tm1Ksp for CAPN10

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAPN10
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAPN10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAPN10

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    hsa-miR-142-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidCAPN10 3' UTR sequence
    Inhib. RNA
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    plasma membrane3
    mitochondrion2
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005623cell IDA17572128
    GO:0005739mitochondrion IDA16790502
    GO:0005829cytosol ISS--
    GO:0005886plasma membrane ISS--

    CAPN10 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CAPN10 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 CAPN10
        Caspase Cascade
    ERK Signaling
    Calpain Protease Regulates Cellular Mechanics
    FAK1 Signaling
    nNOS Signaling in Skeletal Muscle

    1 Tocris Bioscience Pathway for CAPN10
        Apoptosis Pathway

    1 BioSystems Pathway for CAPN10
        Integrin-mediated cell adhesion


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CAPN10
    Interactions:

        GeneGlobe Interaction Network for CAPN10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for CAPN10 (ENSP000003758444) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMA3ENSP000002164554STRING: ENSP00000216455
    EFNB1ENSP000002049614STRING: ENSP00000204961
    ENSG00000206379ENSP000003728734STRING: ENSP00000372873
    FANCCENSP000002890814STRING: ENSP00000289081
    PSMA7ENSP000003599104STRING: ENSP00000359910
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IMP15044459
    GO:0006921cellular component disassembly involved in execution phase of apoptosis IC--
    GO:0031532actin cytoskeleton reorganization ISS12974673
    GO:0032024positive regulation of insulin secretion IMP15471947
    GO:0032388positive regulation of intracellular transport ISS12974673

    CAPN10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    9 ApexBio Compounds for CAPN10     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 CAPN10 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 CAPN10    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    8 Novoseek inferred chemical compound relationships for CAPN10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 51.1 38 17572128 (5), 11756349 (3), 15114470 (2), 18698425 (1) (see all 17)
    cysteine 48.3 12 17151322 (1), 17227582 (1), 18367022 (1), 11017071 (1) (see all 9)
    potassium 6.43 3 16320083 (1), 15823385 (1), 17331067 (1)
    glycogen 4.75 3 17572128 (2)
    calcium 4.39 1 1397332 (1)
    cholesterol 0 3 18698425 (1)
    lipid 0 2 12324979 (1), 18683748 (1)
    arginine 0 1 19688040 (1)



    CAPN10 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CAPN10 gene (8 alternative transcripts): 
    NM_023083.3  NM_023085.3  NM_021251.3  NM_023084.1  NM_023086.1  NM_023087.1  NM_023088.1  NM_023089.1  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391984(uc010zoh.2 uc002vzk.2 uc002vzm.2 uc002vzl.2 uc002vzn.2 uc002vzo.2 uc010fzg.2)
    ENST00000463653 ENST00000404753 ENST00000270364(uc002vzq.2) ENST00000352879
    ENST00000357048 ENST00000416591(uc002vzp.2) ENST00000354082 ENST00000270361
    ENST00000391983 ENST00000494738 ENST00000432084 ENST00000465943 ENST00000483602
    ENST00000493058 ENST00000426297 ENST00000391982
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    Selected AceView cDNA sequences (see all 153):

    BM742098 BM927087 C00612 BM784104 BU527319 CD722325 BM477401 AF089095 
    BM772079 NM_023089 AI339652 BQ187478 BM786145 BG333889 BQ947982 AA489024 
    CB127286 AA515711 BU186381 BM748220 AI739542 BQ057475 AI380257 AA514377 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAPN10 (see all 17)    About this scheme

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

    ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CAPN10

    (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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    CAPN10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCGCTGATG
    CAPN10 Expression
    About this image

    CAPN10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPN10 Protein Expression

    UniProtKB/Swiss-Prot: CAN10_HUMAN, Q9HC96
    Tissue specificity: Detected in primary skeletal muscle cells (at protein level). Ubiquitous

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    In Situ
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    (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 CAPN10 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn101 , 5 calpain 101, 5 82.41(n)1
    81.95(a)1
      1 (46.60 cM)5
    238301  NM_011796.21  NP_035926.21 
     929343765 
    chicken
    (Gallus gallus)
    Aves CAPN101 calpain 10 65.55(n)
    66.16(a)
      424945  XM_004943387.1  XP_004943444.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAPN106
    calpain 10
    54(a)
    1 ↔ 1
    GL343245.1(1827616-1848972)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia capn101 calpain 10 56.05(n)
    52.77(a)
      100379827  XM_004914390.1  XP_004914447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii capn101 calpain 10 57.69(n)
    52.9(a)
      570311  XM_693781.5  XP_698873.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CalpC6
    Calpain C
    22(a)
    1 ↔ 1
    X(16219796-16222556)


    ENSEMBL Gene Tree for CAPN10 (if available)
    TreeFam Gene Tree for CAPN10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CAPN10 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN132  CAPN12  CAPN52  CAPN92  
    CAPNS22  CAPN22  CAPN32  CAPN122  CAPN112  
    1 SIMAP similar gene for CAPN10 using alignment to 4 protein entries:     CAN10_HUMAN (see all proteins):
    CAPN8

    CAPN10 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CAPN10 (see all 463)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360494
    A colorectal cancer sample4--see VAR_0360492 E G mis40--------
    rs1158678881,2
    F--240889423(+) CCCCTA/GTTACC 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1999948351,2
    --240889433(+) CCAAA-/CTCCTCCT 2 -- us2k10--------
    rs76043681,2
    C,F--240889463(+) aacacT/Cgcctc 2 -- us2k12Minor allele frequency- C:0.02NA EA 240
    rs1881875011,2
    --240889471(+) CTCATC/TGAGGC 2 -- us2k10--------
    rs1914551631,2
    --240889488(+) TTCAAG/TACCAT 2 -- us2k10--------
    rs731080401,2
    C,F--240889515(+) CCACAT/CGCAAA 2 -- us2k15Minor allele frequency- C:0.12WA CSA 125
    rs1828323491,2
    --240889549(+) GGCAGC/GTTGAC 2 -- us2k10--------
    rs1495992001,2
    C--240889683(+) GATCT-/GATCAG 2 -- us2k10--------
    rs1426412071,2
    --240889693(+) GCCTGC/GGAGAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CAPN10 (241526133 - 241557122 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CAPN10 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4477n71CNV Loss21882294
    nsv876144CNV Loss21882294
    nsv876116CNV Loss21882294
    dgv4472n71CNV Loss21882294
    nsv834586CNV Loss17160897
    nsv470529CNV Loss18288195
    dgv4473n71CNV Loss21882294
    nsv876157CNV Loss21882294
    nsv876160CNV Loss21882294
    nsv876148CNV Loss21882294

    Human Gene Mutation Database (HGMD): CAPN10
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CAPN10
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN10

    (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.)
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    OMIM gene information: 605286   
    OMIM disorders: 601283  
    UniProtKB/Swiss-Prot: CAN10_HUMAN, Q9HC96
  • Diabetes mellitus, non-insulin-dependent, 1 (NIDDM1) [MIM:601283]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • Selected diseases for CAPN10 (see all 36):    
    About MalaCards
    diabetes mellitus, noninsulin-dependent 1    polycystic ovary syndrome    hyperandrogenism    glucose intolerance
    gestational diabetes    diabetes mellitus    obesity, association with    muscular dystrophy
    21-hydroxylase deficiency    limb-girdle muscular dystrophy    insulin resistance    hypercholesterolemia
    schizoaffective disorder    cystic fibrosis    hypertriglyceridemia    alzheimer's disease
    cataract    atherosclerosis    obesity    infertility

    2 diseases from the University of Copenhagen DISEASES database for CAPN10:
    Diabetes mellitus     Polycystic ovary syndrome

    CAPN10 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CAPN10 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 67 15 12905623 (3), 16721485 (1), 11018080 (1), 18167206 (1) (see all 11)
    polycystic ovary syndrome 65.7 12 18701098 (2), 17106059 (1), 18698425 (1), 19337008 (1) (see all 10)
    lgmd2a 60 1 9777948 (1)
    insulin resistance 57 24 18698425 (3), 17305703 (2), 11756349 (1), 11018080 (1) (see all 14)
    impaired glucose tolerance 53.9 2 12914569 (1)
    insulin sensitivity 52.2 9 15114470 (2), 17305703 (1), 15793266 (1), 15641690 (1) (see all 6)
    hyperandrogenism 48.9 1 14602801 (1)
    polycystic ovaries 46.3 2 12161543 (1), 14602801 (1)
    muscular dystrophy limb-girdle 45.2 1 15336956 (1)
    genetic susceptibility 37.9 2 17106059 (1), 18683748 (1)

    Genetic Association Database (GAD): CAPN10
    Human Genome Epidemiology (HuGE) Navigator: CAPN10 (101 documents)

    Export disorders for CAPN10 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 CAPN10 gene, integrated from 10 sources (see all 189):
    (articles sorted by number of sources associating them with CAPN10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. (PubMed id 11017071)1, 2, 3, 4, 9 Horikawa Y....Bell G.I. (Nat. Genet. 2000)
    2. A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes. (PubMed id 16721485)1, 2, 4, 9 Kang E.S.... Lee H.C. (J. Hum. Genet. 2006)
    3. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. (PubMed id 11018080)1, 3, 4, 9 Baier L.J....Bogardus C. (J. Clin. Invest. 2000)
    4. Calpain-10 expression is elevated in pancreatic islets from patients with type 2 diabetes. (PubMed id 19688040)1, 4, 9 Ling C....Lupi R. (PLoS ONE 2009)
    5. Targeted suppression of calpain-10 expression impairs insulin-stimulated glucose uptake in cultured primary human skeletal muscle cells. (PubMed id 17572128)1, 2, 9 Brown A.E....Walker M. (Mol. Genet. Metab. 2007)
    6. Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies. (PubMed id 14730479)1, 4, 9 Song Y....Liu S. (Am. J. Hum. Genet. 2004)
    7. Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women. (PubMed id 17855447)1, 4, 9 Song Y....Liu S. (Hum. Mol. Genet. 2007)
    8. The CAPN10 gene is associated with insulin resistance phenotypes in the Spanish population. (PubMed id 18698425)1, 4, 9 SA!ez M.E....Serrano-RA-os M. (PLoS ONE 2008)
    9. Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. (PubMed id 11481585)1, 4, 9 Evans J.C....Hattersley A.T. (Am. J. Hum. Genet. 2001)
    10. Association of calpain-10 polymorphisms with type 2 diabetes in the Tunisian population. (PubMed id 18487065)1, 4, 9 Kifagi C....Ayadi H. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 11132 HGNC: 1477 AceView: GPR35andCAPN10 Ensembl:ENSG00000142330 euGenes: HUgn11132
    ECgene: CAPN10 H-InvDB: CAPN10

    (According to HUGE)
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    HUGE: KIAA1845

    (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 CAPN10 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 CAPN10 gene:
    Search GeneIP for patents involving CAPN10

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



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