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

CASP12 Gene

protein-coding   GIFtS: 52
GCID: GC11M104757

Caspase 12 (Gene/Pseudogene)

(Previous names: caspase 12 pseudogene 1, caspase 12)
(Previous symbol: CASP12P1)
  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 5

Aliases
Caspase 12 (Gene/Pseudogene)1 2     Caspase 121
CASP12P11 2 5     Inactive Caspase-122
Caspase 12 Pseudogene 11 2     EC 3.4.228
CASP-122 3     

External Ids:    HGNC: 190041   Entrez Gene: 1005067422   Ensembl: ENSG000002044037   OMIM: 6086335   UniProtKB: Q6UXS93   
ORGUL members:    fRNAdb10:FR054980      
NCBI13:AF464191    
NONCODE14:n409671 n409670 n409663 n409668 n409665 see all 8      
RNAdb15:LIT2097    

Export aliases for CASP12 gene to outside databases

Previous GC identifer: GC11M104261


(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 CASP12 Gene:
Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This
gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In
rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in
humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of
human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through
codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an
increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for
this gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for CASP12 Gene: 
CASP12 (caspase 12 (gene/pseudogene)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with CASP12 include anoxia, and myocardial infarction, and among its related super-pathways are Parkinson's disease and Cellular Apoptosis Pathway. GO annotations related to this gene include cysteine-type endopeptidase activity. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASPC_HUMAN, Q6UXS9
Function: Has no protease activity. May reduce cytokine release in response to bacterial lipopolysaccharide during
infections. Reduces activation of NF-kappa-B in response to TNF

summary for CASP12 Gene:
Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of
apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and
effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,
upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector
caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the
executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase
Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors
such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For
example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form
part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by
inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of
many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory
disease.



fRNAdb sequence ontology for CASP12:
mature_transcript - A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.

(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  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CASP12 gene promoter:
         Pbx1a   p53   ATF-2   AP-4   Tal-1beta   HNF-3beta   Evi-1   FOXO4   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CASP12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP12


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

Entrez Gene cytogenetic band: 11q22.3   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22.3

CASP12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP12 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M104757:  view genomic region     (about GC identifiers)

Start:
104,756,445 bp from pter      End:
104,769,397 bp from pter
Size:
12,953 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CASP12

(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: CASPC_HUMAN, Q6UXS9 (See protein sequence)
Recommended Name: Inactive caspase-12  
Size: 341 amino acids; 38865 Da
Secondary accessions: D6RBN7
Alternative splicing: 3 isoforms:  Q6UXS9-1   Q6UXS9-2   Q6UXS9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CASP12: NX_Q6UXS9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UXS9

  • 4/6 DME Specific Peptides for CASP12 (Q6UXS9) (see all 6)
     SDSTFLV  LHDDTIF  DKPKVII  HVEKDFIAF 

    CASP12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001177945.1  
    ENSEMBL proteins: 
     ENSP00000427128   ENSP00000421408   ENSP00000424038   ENSP00000426427   ENSP00000425652  
     ENSP00000423970   ENSP00000427437   ENSP00000423899   ENSP00000424963   ENSP00000421815  
     ENSP00000426566  

    Human Recombinant Protein Products for CASP12: 
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    Novus Biologicals CASP12 Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASP12 

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

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

    CASP12 for ontologies           About GeneDecksing



    CASP12 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CASP12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CASP: Caspases

    5/9 InterPro protein domains (see all 9):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR017350 Caspase_IL-1_beta
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14_p45_core

    Graphical View of Domain Structure for InterPro Entry Q6UXS9

    ProtoNet protein and cluster: Q6UXS9

    2 Blocks protein domains:
    IPB001315 CARD interaction domain
    IPB002398 Interleukin-1B converting enzyme signature


    UniProtKB/Swiss-Prot: CASPC_HUMAN, Q6UXS9
    Similarity: Belongs to the peptidase C14A family
    Similarity: Contains 1 CARD domain


    CASP12 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: CASPC_HUMAN, Q6UXS9
    Function: Has no protease activity. May reduce cytokine release in response to bacterial lipopolysaccharide during
    infections. Reduces activation of NF-kappa-B in response to TNF

         Enzyme Number (IUBMB): EC 3.4.222

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0008234cysteine-type peptidase activity ----
         
    CASP12 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Casp12):
     behavior/neurological  cellular  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  normal  tumorigenesis 

    CASP12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CASP12: Casp12tm1Dwni Casp12tm1Yuan

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CASP12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CASP12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP12 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP12


    (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 CASP12 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    3Apoptosis Pathway
    Apoptosis Pathway0.45
    414-3-3 Induced Apoptosis
    Apoptosis0.37
    5Sorafenib Pharmacodynamics
    VEGF Pathway0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CASP12
        Mitochondrial Apoptosis

    2 Tocris Bioscience Pathways for CASP12
        Apoptosis Pathway
    VEGF Pathway

    2 BioSystems Pathways for CASP12
        Alzheimers Disease
    Integrated Pancreatic Cancer Pathway


    5/6         Kegg Pathways  (Kegg details for CASP12) (see all 6):
        Protein processing in endoplasmic reticulum
    Apoptosis
    Alzheimer's disease
    Amyotrophic lateral sclerosis (ALS)
    Prion diseases


    CASP12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASP12

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006915apoptotic process ----
    GO:0006926virus-infected cell apoptotic process IEA--
    GO:0030968endoplasmic reticulum unfolded protein response IEA--
    GO:0042981regulation of apoptotic process IEA--

    CASP12 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CASP12 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
    Z-DQMD-FMKCaspase-3 inhibitor--
    CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
    Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
    Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

    Search CenterWatch for drugs/clinical trials and news about CASP12 / CASPC

    (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 CASP12 gene: 
    NM_001191016.1  

    Unigene Cluster for CASP12:

    Caspase 12 (gene/pseudogene)
    Hs.476989  [show with all ESTs]
    Unigene Representative Sequence: NM_001191016
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000422698(uc001pht.2) ENST00000458137(uc001phw.2) ENST00000375726
    ENST00000447913(uc001phx.2) ENST00000446862(uc021qpk.1) ENST00000441710(uc009yxf.2)
    ENST00000433738(uc021qpm.1) ENST00000448103(uc001phv.2) ENST00000417998(uc001phu.2)
    ENST00000494737(uc021qpl.1) ENST00000508062
    miRNA
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    Additional mRNA sequence: 

    AF464191.1 AF464192.1 AF464193.1 AF464194.1 AF464195.1 AF486844.1 AF486845.1 AF486846.1 
    AF486847.1 AY358222.1 NR_034061.1 NR_034063.1 NR_034064.1 NR_034065.1 NR_034066.1 NR_034067.1 
    NR_034068.1 NR_034070.1 NR_034071.1 

    4 DOTS entries:

    DT.100020552  DT.97835158  DT.120726955  DT.40240203 

    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

    CASP12 expression in normal human tissues (normalized intensities)      CASP12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CASP12 Expression
    About this image


    CASP12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             cd31+ cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Endothelium (Cardiovascular System)
             cd31+ cells   
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End

    Genevestigator expression for CASP12

    SOURCE GeneReport for Unigene cluster: Hs.476989

    UniProtKB/Swiss-Prot: CASPC_HUMAN, Q6UXS9
    Tissue specificity: Detected in heart, kidney, liver, lung, pancreas, small intestine, spleen, stomach, thymus and
    testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP12

    (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 CASP12 gene from 6/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casp121 , 5 caspase 121, 5 69.29(n)1
    57.7(a)1
      9 (2.46 cM)5
    123641  NM_009808.41  NP_033938.31 
     53454305 
    chicken
    (Gallus gallus)
    Aves CASP16
    Uncharacterized protein
    40(a)
    1 → many
    19(705896-708766)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    39(a)
    1 → many
    GL344618.1(3490-9499)
    zebrafish
    (Danio rerio)
    Actinopterygii caspa6
    caspbl6
    (see all 5)
    caspase b, like
    (see all 5)
    26(a)
    25(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    16(44763011-44774004)
    1(58792132-58801668)
    fruit fly
    (Drosophila melanogaster)
    Insecta Nc6
    Nedd2-like caspase
    12(a)
    1 → many
    3L(9961579-9964102)
    worm
    (Caenorhabditis elegans)
    Secernentea csp-36
    csp-26
    (see all 4)
    Protein CSP-2
    (see all 4)
    9(a)
    6(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    I(11888503-11889340)
    IV(6307739-6315719)


    ENSEMBL Gene Tree for CASP12 (if available)
    TreeFam Gene Tree for CASP12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CASP12 gene
    CASP162  CASP62  CASP82  CASP92  CASP72  CASP32  CASP22  CASP142  
    CASP12  CASP52  CASP102  CASP42  
    6 SIMAP similar genes for CASP12 using alignment to 7 protein entries:     CASPC_HUMAN (see all proteins):
    DKFZp586A181    CASP5    LOC643733    mih1/Tx    CASP1    CASP4

    CASP12 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

    UniProtKB/Swiss-Prot: CASPC_HUMAN, Q6UXS9
    Polymorphism: The most frequent variant has a stop codon instead of Arg-125, giving rise to truncated forms of
    isoform 1 (named delta, epsilon, eta, gamma) and isoform 3 (iota, teta). The variant Arg-125 (Csp12-L) is rare,
    except in some populations from sub-Saharan Africa. Csp12-L may increase the susceptibility to severe sepsis, and
    may also increase the mortality rate in sepsis patients


    10/396 SNPs in CASP12 are shown (see all 396)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs4971161,2
    C,F,A,Hother1104626912(-) GGATGT/CGAGAT 2 /R /* stg122Minor allele frequency- C:0.05NS EA NA WA CSA EU 2289
    rs127875081,2
    C--100686827(+) aaagaG/Aagaga 1 -- ds50013Minor allele frequency- A:0.00NA 6
    rs127854141,2
    C--100686831(+) aaagaA/Gagaaa 1 -- ds50011Minor allele frequency- G:0.00NA 2
    rs792959731,2
    C--100697186(+) GAAAA-/GGTGGG 10 -- int10--------
    rs127854201,2
    C--104619764(+) agaaaA/Gaaaaa 1 -- ds50010--------
    rs2021816771,2
    C--104619766(+) AAAGAA/GAAAGA 1 -- ds50010--------
    rs112265421,2
    C--104619772(+) AAAGAA/GAGAGA 1 -- ds50010--------
    rs112265431,2
    C--104619774(+) AGAAAA/GAGAAA 1 -- ds50010--------
    rs1443976271,2
    --104619869(+) AGATAA/GGAATC 1 -- ds50010--------
    rs794624931,2
    C,F--104619967(+) TGTCTC/TTGGGG 1 -- ds50012Minor allele frequency- T:0.20CSA WA 120

    HapMap Linkage Disequilibrium report for CASP12 (104756445 - 104769397 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CASP12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2656719CNV Deletion23128226
    esv27913CNV Loss19812545
    nsv832255CNV Loss17160897
    nsv826072CNV Loss20364138
    esv2750978CNV Gain17911159
    nsv898355CNV Gain21882294
    nsv8869CNV Gain+Loss18304495
    dgv433e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): CASP12
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CASP12
    DNA2.0 Custom Variant and Variant Library Synthesis for CASP12

    (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
    OMIM gene information: 608633OMIM information:   
    8 diseases for CASP12:    About MalaCards
    anoxia    myocardial infarction    candidiasis    alzheimer's disease
    malaria    retinitis    pancreatic cancer    pancreatitis


    CASP12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CASP12
    Human Genome Epidemiology (HuGE) Navigator: CASP12 (4 documents)

    Export disorders for CASP12 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 CASP12 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with CASP12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Population distribution of the functional caspase-12 allele. (PubMed id 16917906)1, 2, 3, 4 Kachapati K.... Dean M. (2006)
    2. Spread of an inactive form of caspase-12 in humans is due to recent positive selection. (PubMed id 16532395)1, 2, 3 Xue Y....Tyler-Smith C. (2006)
    3. Human caspase 12 has acquired deleterious mutations. (PubMed id 12054529)1, 2, 3 Fischer H.... Tschachler E. (2002)
    4. Genetic variation of innate immune genes in HIV-infec ted african patients with or without oropharyngeal candidiasis. (PubMed id 20577092)1, 4 Plantinga T.S....Netea M.G. (2010)
    5. Examination of Association with Candidate Genes for D iabetic Nephropathy in a Mexican American Population. (PubMed id 20299368)1, 4 Kim S....Adler S.G. (2010)
    6. Persistence of full-length caspase-12 and its relatio n to malaria in West and Central African populations. (PubMed id 20423816)1, 4 McCall M.B....Netea M.G. (2010)
    7. Differential modulation of endotoxin responsiveness by human caspase- 12 polymorphisms. (PubMed id 15129283)1, 2 Saleh M....Nicholson D.W. (2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    9. Characterization of seven murine caspase family members. (PubMed id 9038361)1, 3 Van de Craen M....Fiers W. (1997)
    10. The impact of caspase-12 on susceptibility to candidem ia. (PubMed id 21706251)1 Rosentul D.C....Netea M.G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 100506742 HGNC: 19004 Ensembl:ENSG00000204403 euGenes: HUgn100506742 ECgene: CASP12 Kegg: 100506742
    H-InvDB: CASP12

    (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 CASP12 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 CASP12 gene:
    Search GeneIP for patents involving CASP12

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



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