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

CAPNS2 Gene

protein-coding   GIFtS: 47
GCID: GC16P055655

Calpain, Small Subunit 2

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, Small Subunit 21 2
Calcium-Dependent Protease Small Subunit 22 3
CSS22 3
Calpain Small Subunit 22

External Ids:    HGNC: 163711   Entrez Gene: 842902   Ensembl: ENSG000002568127   UniProtKB: Q96L463   

Export aliases for CAPNS2 gene to outside databases

Previous GC identifers: GC16P046015 GC16P055338 GC16P055379 GC16P054158


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

GeneCards Summary for CAPNS2 Gene: 
CAPNS2 (calpain, small subunit 2) is a protein-coding gene. Diseases associated with CAPNS2 include gastric cancer, and muscular dystrophy. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CAPN6.

UniProtKB/Swiss-Prot: CPNS2_HUMAN, Q96L46
Function: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates
involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific
chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity

summary for CAPNS2 Gene:
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals.
This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most
well-characterized. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa
regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure. Calpains are regulated
by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization
(limiting access to substrate). These endopeptidases have numerous functions including, but not limited to,
remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility,
proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling
progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic
pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been
associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimer's
disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAPNS2 gene promoter:
         CUTL1   Meis-1b   POU2F1   HSF2   POU2F1a   Sox9   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CAPNS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPNS2


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

Entrez Gene cytogenetic band: 16q12.2   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q12.2

CAPNS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPNS2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P055655:  view genomic region     (about GC identifiers)

Start:
55,600,584 bp from pter      End:
55,601,599 bp from pter
Size:
1,016 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: CPNS2_HUMAN, Q96L46 (See protein sequence)
Recommended Name: Calpain small subunit 2  
Size: 248 amino acids; 27660 Da
Subunit: Heterodimer of a large (catalytic) and a small (regulatory) subunit
Subcellular location: Cytoplasm (By similarity). Cell membrane (By similarity). Note=Translocates to the plasma
membrane upon calcium binding (By similarity)
Secondary accessions: Q9BPV4

Explore the universe of human proteins at neXtProt for CAPNS2: NX_Q96L46

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96L46

  • CAPNS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_115706.1  
    ENSEMBL proteins: 
     ENSP00000400882  

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    Cloud-Clone Corp. Proteins for CAPNS2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--

    CAPNS2 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
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    2 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry Q96L46

    ProtoNet protein and cluster: Q96L46

    UniProtKB/Swiss-Prot: CPNS2_HUMAN, Q96L46
    Similarity: Contains 4 EF-hand domains


    CAPNS2 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: CPNS2_HUMAN, Q96L46
    Function: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates
    involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific
    chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    CAPNS2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAPNS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CAPNS2

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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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CAPNS2

    1 Interacting protein for CAPNS2 (Q96L463) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN2P176553I2D: score=1 
    About this table

    (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 CAPNS2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CAPNS2 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 CAPNS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about CAPNS2 / CPNS2

    (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 CAPNS2 gene: 
    NM_032330.1  

    Unigene Cluster for CAPNS2:

    Calpain, small subunit 2
    Hs.660027  [show with all ESTs]
    Unigene Representative Sequence: BM914030
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000457326(uc002eid.1)

    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPNS2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPNS2
    Sirion Biotech Customized lentivirus for stable overexpression of CAPNS2 
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    Primer
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    Additional mRNA sequence: 

    AY052551.1 BC005397.1 BC006000.1 

    1 DOTS entry:

    DT.408239 

    24/135 AceView cDNA sequences (see all 135):

    BU195114 CA748632 BG679603 BF438871 BC006000 N70822 BC002472 AL601202 
    BC005397 NM_032330 BC005981 AW472912 BM914235 NM_017839 AA450333 BQ720497 
    BX118074 BQ017492 BE272481 AI866729 AI493045 AW872882 BX641069 AU132727 

    GeneLoc Exon Structure


    (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

    CAPNS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGCCTTT
    CAPNS2 Expression
    About this image


    Genevestigator expression for CAPNS2

    SOURCE GeneReport for Unigene cluster: Hs.660027
        SABiosciences Custom PCR Arrays for CAPNS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPNS2

    (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 CAPNS2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capns21 , 5 calpain, small subunit 21, 5 86.1(n)1
    92.31(a)1
      8 (44.99 cM)5
    695431  NM_027112.11  NP_081388.11 
     929014075 
    chicken
    (Gallus gallus)
    Aves CAPNS11 calpain, small subunit 1 73.42(n)
    74.38(a)
      770982  XM_001232968.2  XP_001232969.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAPNS16
    Uncharacterized protein
    69(a)
    1 → many
    GL343635.1(79657-93770)
    zebrafish
    (Danio rerio)
    Actinopterygii capns1b6
    capns1a6
    calpain, small subunit 1 a
    60(a)
    58(a)
    many ↔ many
    many ↔ many
    15(28465241-28471917)
    5(38254980-38265857)
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0120671 AGAP012067-PA 50.56(n)
    38.89(a)
      1280602  XM_320457.3  XP_320457.3 


    ENSEMBL Gene Tree for CAPNS2 (if available)
    TreeFam Gene Tree for CAPNS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAPNS2 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN132  CAPN12  CAPN52  CAPN92  
    CAPN32  CAPN22  CAPN122  CAPN112  CAPN102  
    10 SIMAP similar genes for CAPNS2 using alignment to 1 protein entry:     CPNS2_HUMAN:
    CAPNS1    CAPN3    CAPN11    CAPN1    CAPN2    CAPN9
    CAPN8    PDCD6    SRI    GCA

    CAPNS2 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
    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CAPNS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv521337CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CAPNS2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for CAPNS2:    About MalaCards
    gastric cancer    muscular dystrophy    alzheimer's disease


    CAPNS2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CAPNS2
    Human Genome Epidemiology (HuGE) Navigator: CAPNS2 (3 documents)

    Export disorders for CAPNS2 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 CAPNS2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CAPNS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human small subunit of calpains. (PubMed id 11853546)1, 2, 3, 9 Schad E.... Friedrich P. (2002)
    2. 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)
    3. 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)
    4. Expression of calpain small subunit 2 in mammalian tissues. (PubMed id 15590481)1, 9 Ma H....Shearer T.R. (2004)
    5. A meta-analysis of thyroid-related traits reveals nove l loci and gender-specific differences in the regulation of thyroid function. (PubMed id 23408906)1 Porcu E....Naitza S. (2013)
    6. Calpain expression in the brain cortex after traumatic brain injury. (PubMed id 23390828)1 Bralic M. and Stemberga V. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84290 HGNC: 16371 AceView: FLJ20481 Ensembl:ENSG00000256812 euGenes: HUgn84290
    ECgene: CAPNS2 H-InvDB: CAPNS2

    (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 CAPNS2 Pharmacogenomics, SNPs, Pathways
    Calpains homepagehttp://ag.arizona.edu/calpains/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CAPNS2 gene:
    Search GeneIP for patents involving CAPNS2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     EMD Millipore small molecules (inhibitor) for CAPNS2
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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