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CAPN12 Gene

protein-coding   GIFtS: 50
GCID: GC19M039220

Calpain 12

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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)
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Aliases
Calpain 121 2     EC 3.4.22.-3
Calcium-Activated Neutral Proteinase 122 3     EC 3.4.228
CANP 122 3     EC 3.4.22.528
calpain-122     EC 3.4.22.548

External Ids:    HGNC: 132491   Entrez Gene: 1479682   Ensembl: ENSG000001824727   OMIM: 6088395   UniProtKB: Q6ZSI93   

Export aliases for CAPN12 gene to outside databases

Previous GC identifers: GC00U906237 GC19M043896 GC19M043912 GC19M043913 GC19M035667


(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 CAPN12 Gene:
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The
mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes
consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory
subunit. This gene encodes a member of the calpain large subunit family. (provided by RefSeq, Jun 2012)

GeneCards Summary for CAPN12 Gene:
CAPN12 (calpain 12) is a protein-coding gene. GO annotations related to this gene include calcium-dependent cysteine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is CAPN6.

UniProtKB/Swiss-Prot: CAN12_HUMAN, Q6ZSI9
Function: Calcium-regulated non-lysosomal thiol-protease (By similarity)

summary for CAPN12 Gene:
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals.
This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most
well-characterized. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa
regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure. Calpains are regulated
by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization
(limiting access to substrate). These endopeptidases have numerous functions including, but not limited to,
remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility,
proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling
progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic
pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been
associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimer's
disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CAPN12 gene promoter:
         Sp1   SREBP-1c   Roaz   SREBP-1b   Max   Egr-2   S8   SREBP-1a   ZIC2/Zic2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAPN12 promoter sequence
   Search Chromatin IP Primers for CAPN12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAPN12


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

CAPN12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN12 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M039220:  view genomic region     (about GC identifiers)

Start:
39,220,827 bp from pter      End:
39,260,544 bp from pter
Size:
39,718 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CAN12_HUMAN, Q6ZSI9 (See protein sequence)
Recommended Name: Calpain-12  
Size: 719 amino acids; 81037 Da

Explore the universe of human proteins at neXtProt for CAPN12: NX_Q6ZSI9

Explore proteomics data for CAPN12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CAPN12 (Q6ZSI9) (see all 7)
     RLRNPWG  LVKGHAY  TFWTNPQ  LLEKAYAK 


    See CAPN12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_653292.2  
    ENSEMBL proteins: 
     ENSP00000469217   ENSP00000470760   ENSP00000473156   ENSP00000331636   ENSP00000471007  
     ENSP00000470233   ENSP00000471510  

    CAPN12 Human Recombinant Protein Products:

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    OriGene Custom MassSpec
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    Novus Biologicals CAPN12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CAPN12

     
    Search eBioscience for Proteins for CAPN12 

     
    antibodies-online proteins for CAPN12 (3 products) 

     
    Search antibodies-online for peptides for CAPN12

    CAPN12 Antibody Products:

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    Search ThermoFisher Antibodies for CAPN12
    antibodies-online antibodies for CAPN12 (23 products) 

    CAPN12 Assay Products:

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    Cloud-Clone Corp. ELISAs for CAPN12
    Cloud-Clone Corp. CLIAs for CAPN12
    Search eBioscience for ELISAs for CAPN12 
    antibodies-online kits for CAPN12 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 8):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR001300 Peptidase_C2_calpain_cat
     IPR018247 EF_Hand_1_Ca_BS
     IPR000169 Pept_cys_AS

    Graphical View of Domain Structure for InterPro Entry Q6ZSI9

    ProtoNet protein and cluster: Q6ZSI9

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

    UniProtKB/Swiss-Prot: CAN12_HUMAN, Q6ZSI9
    Similarity: Belongs to the peptidase C2 family
    Similarity: Contains 1 calpain catalytic domain
    Similarity: Contains 1 EF-hand domain


    Find genes that share domains with CAPN12           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: CAN12_HUMAN, Q6ZSI9
    Function: Calcium-regulated non-lysosomal thiol-protease (By similarity)
    Catalytic activity: Broad endopeptidase specificity

         Enzyme Numbers (IUBMB): EC 3.4.22.542 EC 3.4.222 EC 3.4.22.522 EC 3.4.22.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004198calcium-dependent cysteine-type endopeptidase activity IBA--
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with CAPN12           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CAPN12

    miRNA
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    Block miRNA regulation of human, mouse, rat CAPN12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CAPN12 (see all 19):
    hsa-miR-330-5p hsa-miR-3653 hsa-miR-410 hsa-miR-637 hsa-miR-654-5p hsa-miR-3658 hsa-miR-326 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidCAPN12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CAPN12
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN12

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CAPN12

    Clone
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    OriGene clones in human, mouse for CAPN12 (see all 7)
    OriGene ORF clones in mouse, rat for CAPN12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAPN12 (NM_144691)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN12

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CAPN12 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN12


    (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
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--

    Find genes that share ontologies with CAPN12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CAPN12 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis Pathway
    Apoptosis Pathway0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Tocris Bioscience Pathway for CAPN12
        Apoptosis Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CAPN12
    Interactions:

        Search GeneGlobe Interaction Network for CAPN12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for CAPN12 (ENSP000003316364) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN2ENSP000002950064STRING: ENSP00000295006
    CAPN1ENSP000002792474STRING: ENSP00000279247
    CAPN3ENSP000003803494STRING: ENSP00000380349
    CAPN9ENSP000002719714STRING: ENSP00000271971
    CAPN11ENSP000003817584STRING: ENSP00000381758
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IBA--

    Find genes that share ontologies with CAPN12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for CAPN12 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 CAPN12    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CAPN12 gene: 
    NM_144691.3  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000594552 ENST00000597987 ENST00000601953 ENST00000593700 ENST00000597716
    ENST00000328867(uc010egd.1 uc002ojc.1 uc002ojd.1) ENST00000595177
    ENST00000597354 ENST00000601685 ENST00000594497 ENST00000598684 ENST00000597740

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CAPN12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CAPN12 (see all 19):
    hsa-miR-330-5p hsa-miR-3653 hsa-miR-410 hsa-miR-637 hsa-miR-654-5p hsa-miR-3658 hsa-miR-326 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidCAPN12 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CAPN12
    Predesigned siRNA for gene silencing in human, mouse, rat CAPN12
    Clone
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    OriGene clones in human, mouse for CAPN12 (see all 7)
    OriGene ORF clones in mouse, rat for CAPN12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CAPN12 (NM_144691)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN12
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CAPN12
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CAPN12
      QuantiTect SYBR Green Assays in human, mouse, rat CAPN12
      QuantiFast Probe-based Assays in human, mouse, rat CAPN12

    Selected AceView cDNA sequences (see all 90):

    NM_144691 AK125713 AA228347 AA834121 BF197540 AA931336 H50993 AK127398 
    BE872274 BM850920 AW628291 BF058339 CD637164 BC040022 AA702768 BG831319 
    AW292852 BF476355 AI015383 AW450718 AA938561 AK094707 CD637163 BQ928225 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAPN12 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for CAPN12

    (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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    CAPN12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATTATC
    CAPN12 Expression
    About this image

    CAPN12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAPN12 Protein Expression
        Custom PCR Arrays for CAPN12
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN12

    (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 CAPN12 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Capn121 , 5 calpain 121, 5 83.87(n)1
    85.54(a)1
      7 (16.94 cM)5
    605941  NM_001110807.11  NP_001104277.11 
     288816565 
    lizard
    (Anolis carolinensis)
    Reptilia CAPN126
    calpain 12
    45(a)
    1 ↔ 1
    AAWZ02036781(3246-19007)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004959801 calpain-2 catalytic subunit-like 53.63(n)
    47.35(a)
      100495980  XM_002939251.2  XP_002939297.2 
    zebrafish
    (Danio rerio)
    Actinopterygii capn126
    calpain 12
    35(a)
    many ↔ many
    18(35004491-35073668) ENSDARG00000010758
    fruit fly
    (Drosophila melanogaster)
    Insecta CalpA6
    CalpB6
    Calpain-B
    31(a)
    27(a)
    many ↔ many
    many ↔ many
    2R(15312578-15318068)
    3L(9881862-9886419)
    worm
    (Caenorhabditis elegans)
    Secernentea clp-66
    clp-46
    (see all 5)
    Protein CLP-6 (clp-6) mRNA, complete cds
    Protein CLP-4, isoform a (clp-4) mRNA, complete cd...
    (see all 5)
    31(a)
    27(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(1431180-1435018) WBGene00000546
    III(1807734-1818323) WBGene00000545


    ENSEMBL Gene Tree for CAPN12 (if available)
    TreeFam Gene Tree for CAPN12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CAPN12 gene
    CAPN62  CAPN82  CAPN142  CAPNS12  CAPN132  CAPN12  CAPN52  CAPN92  
    CAPN32  CAPNS22  CAPN22  CAPN112  CAPN102  
    8 SIMAP similar genes for CAPN12 using alignment to 7 protein entries:     CAN12_HUMAN (see all proteins):
    CAPN2    CAPN8    CAPN11    CAPN1    CAPNS1    CAPN9
    CAPN3    CAPN14

    Find genes that share paralogs with CAPN12           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CAPN12 (see all 593)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1412087261,2
    C--39221716(+) TCCCC-/CCAT  
      GCCCCA
    CCATG
    1 -- int10--------
    rs2012166901,2
    C--39221730(+) ACCATA/GCCGGG 1 -- int10--------
    rs2004918991,2
    --39221732(+) CATGCC/TGGGGT 1 -- int10--------
    rs1399978831,2
    C,F--39221781(+) GACACG/AAACCG 2 /F syn11Minor allele frequency- A:0.01NA 4490
    rs1390192091,2
    C,F--39221785(+) CGAACC/TGCTCG 2 Q R mis11Minor allele frequency- T:0.00NA 4504
    rs1995588211,2
    C--39221801(+) CACACA/GCAGAC 2 R C mis10--------
    rs1449190211,2
    C--39221815(+) TATCCC/TGGTAG 2 Q R mis10--------
    rs1433458991,2
    C,F--39221822(+) GTAGCG/AGCTGG 2 /R /C mis12Minor allele frequency- A:0.00NA EU 5663
    rs2005308261,2
    C,F--39221828(+) GCTGGT/GGAGGG 2 /T /P mis11Minor allele frequency- G:0.07EU 271
    rs1997424361,2
    --39221858(+) CAGGTA/GGAAGC 2 H Y mis10--------

    HapMap Linkage Disequilibrium report for CAPN12 (39220827 - 39260544 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CAPN12:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv641e199CNV Deletion23128226
    esv2661022CNV Deletion23128226
    esv2718536CNV Deletion23290073
    esv2718537CNV Deletion23290073
    nsv911668CNV Loss21882294
    nsv833828CNV Loss17160897
    nsv911669CNV Loss21882294
    nsv817834CNV Gain17921354
    nsv7307OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): CAPN12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CAPN12
    DNA2.0 Custom Variant and Variant Library Synthesis for CAPN12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608839    OMIM disorders: --


    Find genes that share disorders with CAPN12           About GenesLikeMe


    Export disorders for CAPN12 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 CAPN12 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CAPN12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Gene structure, chromosomal localization, and expression pattern of Capn12, a new member of the calpain large subunit gene family. (PubMed id 10964513)1 Dear T.N....Boehm T. (Genomics 2000)
    4. Effects of calpain and Rho-kinase inhibitors on the acrosome reaction and motility of fowl spermatozoa in vitro. (PubMed id 16388011)9 Ashizawa K....Tsuzuki Y. (Reproduction 2006)
    5. Profiling proteins related to amyloid deposited brain of Tg2576 mice. (PubMed id 15378736)9 Shin S.J....Mook-Jung I. (Proteomics 2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 147968 HGNC: 13249 AceView: CAPN12 Ensembl:ENSG00000182472 euGenes: HUgn147968
    ECgene: CAPN12 H-InvDB: CAPN12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CAPN12 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 CAPN12 gene:
    Search GeneIP for patents involving CAPN12

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



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