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CASP12 Gene

protein-coding   GIFtS: 49
GCID: GC11M104757

Caspase 12 (Gene/Pseudogene)

(Previous names: caspase 12 pseudogene 1, caspase 12)
(Previous symbol: CASP12P1)
Pneumococci & Pneumococcal Diseases Congress
  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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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with CASP12 include sepsis, and anoxia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   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 Chromatin IP Primers for CASP12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, and/or Cloud-Clone Corp.)
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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

Explore proteomics data for CASP12 at MOPED

Selected DME Specific Peptides for CASP12 (Q6UXS9) (see all 6)
 SDSTFLV  LHDDTIF  DKPKVII  HVEKDFIAF 


See CASP12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001177945.1  
ENSEMBL proteins: 
 ENSP00000427128   ENSP00000421408   ENSP00000424038   ENSP00000426427   ENSP00000425652  
 ENSP00000423970   ENSP00000427437   ENSP00000423899   ENSP00000424963   ENSP00000421815  
 ENSP00000426566  

CASP12 Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for CASP12
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Novus Biologicals CASP12 Proteins
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Browse Sino Biological Cell Lysates
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Cloud-Clone Corp. Proteins for CASP12

CASP12 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of CASP12
R&D Systems Antibodies for CASP12 (Caspase-12)
OriGene Antibodies for CASP12
OriGene Custom Antibody Services for CASP12
Novus Biologicals CASP12 Antibodies
Abcam antibodies for CASP12
Cloud-Clone Corp. Antibodies for CASP12
ThermoFisher Antibodies for CASP12
LSBio Antibodies in human, mouse, rat for CASP12

CASP12 Assay Products:

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Cloud-Clone Corp. ELISAs for CASP12
Cloud-Clone Corp. CLIAs for CASP12


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

Selected InterPro protein domains (see all 8):
 IPR001309 Pept_C14_ICE_p20
 IPR011029 DEATH-like_dom
 IPR017350 Caspase_IL-1_beta
 IPR002138 Pept_C14_p10
 IPR015917 Pept_C14A_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,
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: 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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004197cysteine-type endopeptidase activity IBA--
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: Let us create your new Knockout/Knockin mouse model for CASP12
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

miRNA
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Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat CASP12

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GenScript: all cDNA clones in your preferred vector: CASP12 (NM_001191016)
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Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CASP12

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP12


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005737cytoplasm IBA--
GO:0072557NOT IPAF inflammasome complex IBA--
GO:0072559NOT NLRP3 inflammasome complex IBA--
GO:0097169NOT AIM2 inflammasome complex IBA--

CASP12 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 CASP12 About   (see all 11)                                                                                              See pathways by source

SuperPathContained pathways About
1Alzheimer's disease
Alzheimers Disease0.44
Alzheimer's disease0.44
2Apoptotic Pathways in Synovial Fibroblasts
Mitochondrial Apoptosis0.85
3Amyotrophic lateral sclerosis (ALS)
Amyotrophic lateral sclerosis (ALS)0.63
4Apoptosis Pathway
Apoptosis Pathway0.45
5Apoptosis (KEGG)
Apoptosis0.37

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

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

2 Tocris Bioscience Pathways for CASP12
    Apoptosis Pathway
VEGF Pathway

3 BioSystems Pathways for CASP12
    Integrated Pancreatic Cancer Pathway
Corticotropin-releasing hormone
Alzheimers Disease


Selected 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

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CASP12
Interactions:

    GeneGlobe Interaction Network for CASP12

Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis ----
GO:0006915apoptotic process ----
GO:0006926virus-infected cell apoptotic process ----
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, 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
Selected ApexBio Compounds for CASP12 (see all 12)     About this table
CompoundAction CAS #
Apoptosis InhibitorCell-permeable caspase-3 inhibitor[54135-60-3]
Caspase-3/7 Inhibitor ICell-permeable and irreversible inhibitor of caspase-3 and -7[220509-74-0]
CisplatinChemotherapy agent, induces apoptosis[15663-27-1]
PAC-1Procaspase-activating compound, activates procaspase-3 and converts it to caspase-3[315183-21-2]
Q-VD-OphCell-permeable, irreversible pan-caspase inhibitor[1135695-98-5]
VX-765 Novel Caspase-1 inhibitor[273404-37-8]
Z-DEVD-FMKCell-permeable, and irreversible caspase-3 inhibitor[210344-95-9]
Z-DQMD-FMKCell-permeable caspase-3 inhibitor--
Z-FA-FMKEffector caspases 2, 3, 5, and 7--
Z-VAD-FMKCell-permeable, irreversible pan-caspase inhibitor[187389-52-2]

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]



(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,
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 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
Products:
     
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Search for qRT-PCR Assays for microRNAs that regulate CASP12
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat CASP12
Clone
Products:
     
OriGene clones in human, mouse for CASP12 (see all 5)
OriGene ORF clones in mouse, rat for CASP12
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: CASP12 (NM_001191016)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP12
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CASP12
Primer
Products:
    
Browse OriGene qPCR
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASP12
  QuantiTect SYBR Green Assays in human, mouse, rat CASP12
  Search QuantiFast Probe-based Assays in human, mouse, rat CASP12

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™, 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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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
 selected tissues (see all 5) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Muscle Progenitor Cells Mandibular Arch Muscles
 
 Epithelial Cells
         Duct Cells Pancreatic Ducts
 
 Pancreas (Endocrine System)
         Duct Cells Pancreatic Ducts
 
 Bone (Muscoskeletal System)
         Zeugopod Epiphyseal End
 
 Blood (Hematopoietic System)
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
CASP12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CASP12 Protein Expression

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)
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This gene was present in the common ancestor of animals.

Orthologs for CASP12 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Casp125 caspase 12   --   9 (2.46 cM) 5345430 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
40(a)
1 → many
19(705896-708766) ENSGALG00000001049
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
40(a)
1 → many
GL344618.1(3490-9499)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-233g6.86
si:ch211-233g6.8
25(a)
many ↔ many
1(59387147-59406072) ENSDARG00000075270
fruit fly
(Drosophila melanogaster)
Insecta Nc6
Dredd6
Death related ced-3/Nedd2-like protein
13(a)
10(a)
many ↔ many
many ↔ many
3L(9961579-9964102)
X(527553-529760)


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)
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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), 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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Polymorphic Variants from UniProtKB/Swiss-Prot
CASPC_HUMAN, Q6UXS9: 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


Selected SNPs for CASP12 (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
Site Specific Mutation Identification with 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.)
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OMIM gene information: 608633OMIM information:   
16 diseases for CASP12:    About MalaCards
sepsis    anoxia    myocardial infarction    candidiasis
prion disease    alzheimer's disease    diabetic nephropathy    malaria
pancreatic cancer    amyotrophic lateral sclerosis    lateral sclerosis    pancreatitis
retinitis    hepatitis b    hepatitis    endotheliitis


CASP12 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
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)
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PubMed articles for CASP12 gene, integrated from 10 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. (Hum. Mutat. 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. (Am. J. Hum. Genet. 2006)
  3. Human caspase 12 has acquired deleterious mutations. (PubMed id 12054529)1, 2, 3 Fischer H.... Tschachler E. (Biochem. Biophys. Res. Commun. 2002)
  4. Genetic variation of innate immune genes in HIV-infected african patients with or without oropharyngeal candidiasis. (PubMed id 20577092)1, 4 Plantinga T.S....Netea M.G. (J. Acquir. Immune Defic. Syndr. 2010)
  5. Examination of association with candidate genes for diabetic nephropathy in a Mexican American population. (PubMed id 20299368)1, 4 Kim S....Adler S.G. (Clin J Am Soc Nephrol 2010)
  6. Persistence of full-length caspase-12 and its relation to malaria in West and Central African populations. (PubMed id 20423816)1, 4 McCall M.B....Netea M.G. (Eur. Cytokine Netw. 2010)
  7. Differential modulation of endotoxin responsiveness by human caspase- 12 polymorphisms. (PubMed id 15129283)1, 2 Saleh M....Nicholson D.W. (Nature 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. (Genome Res. 2003)
  9. Characterization of seven murine caspase family members. (PubMed id 9038361)1, 3 Van de Craen M....Fiers W. (FEBS Lett. 1997)
  10. The impact of caspase-12 on susceptibility to candidemia. (PubMed id 21706251)1 Rosentul D.C....Netea M.G. (amp 2012)

(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: 100506742 HGNC: 19004 Ensembl:ENSG00000204403 euGenes: HUgn100506742 ECgene: CASP12 Kegg: 100506742
H-InvDB: CASP12

(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 CASP12 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 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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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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