Aliases for CASP12 Gene
Aliases for CASP12 Gene
External Ids for CASP12 Gene
- HGNC: 19004
- Entrez Gene: 100506742
- Ensembl: ENSG00000204403
- OMIM: 608633
- UniProtKB: Q6UXS9
Previous HGNC Symbols for CASP12 Gene
- CASP12P1
Previous GeneCards Identifiers for CASP12 Gene
- GC11M104261
- GC11M104757
Summaries 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. Among its related pathways are Toll-like Receptor Signaling Pathway and Protein processing in endoplasmic reticulum. GO annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type endopeptidase activity involved in execution phase of apoptosis. An important paralog of this gene is CASP4.
UniProtKB/Swiss-Prot for CASP12 Gene
-
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.
-
Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.
No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP12 Gene
Genomics for CASP12 Gene
Regulatory Elements for CASP12 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH11G104163 | 1.2 | Ensembl ENCODE | 15 | +734.7 | 734653 | 2.0 | ELF3 SIN3A FEZF1 ZNF2 RAD21 ETS1 GLIS2 SCRT2 EGR2 ZEB2 | CASP12 PDGFD DDI1 |
| GH11G104897 | 0.8 | Ensembl ENCODE | 17.2 | +0.3 | 267 | 1.3 | MTA2 POLR2A JUN RELB TBX21 | CASP12 LOC643733 ENSG00000254569 |
| GH11G104965 | 1.2 | FANTOM5 ENCODE | 11.4 | -69.1 | -69068 | 4.9 | ELF3 TBP ARID4B BRCA1 ZNF48 RAD21 YY1 GATA2 FOS ETV6 | CASP4 LOC643733 CASP5 CASP12 CARD17 CARD16 |
| GH11G104694 | 1.2 | FANTOM5 Ensembl ENCODE | 11.1 | +203.9 | 203938 | 1.2 | JUND JUN CEBPB EP300 TCF7L2 | CARD17 CASP12 LOC643733 CASP4 CARD16 CASP5 ENSG00000270449 PIR54951 |
| GH11G104947 | 0.6 | ENCODE | 11 | -48.4 | -48439 | 0.2 | CTCF TFE3 TEAD1 TRIM22 SMC3 RAD21 | LOC643733 CASP12 CASP4 |
Regulatory Element Products
Genomic Location for CASP12 Gene
- Chromosome:
- 11
- Start:
- 104,885,718 bp from pter
- End:
- 104,898,670 bp from pter
- Size:
- 12,953 bases
- Orientation:
- Minus strand
Genomic View for CASP12 Gene
- Cytogenetic band:
-
- 11q22.3 by Ensembl
- 11q22.3 by Entrez Gene
- 11q22.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CASP12 Gene
Proteins for CASP12 Gene
-
Protein details for CASP12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6UXS9-CASPC_HUMAN
- Recommended name:
- Inactive caspase-12
- Protein Accession:
- Q6UXS9
- D6RBN7
Protein attributes for CASP12 Gene
- Size:
- 341 amino acids
- Molecular mass:
- 38865 Da
- Quaternary structure:
- No Data Available
Protein Expression for CASP12 Gene
Selected DME Specific Peptides for CASP12 Gene
- Q6UXS9:
-
- SMTRYFYLFPG
- HVEKDFIAF
- SSTPHNVSWR
- DKPKVII
- LHDDTIF
- SDSTFLV
Post-translational modifications for CASP12 Gene
Other Protein References for CASP12 Gene
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CASP12
- R&D Systems Antibodies for CASP12 (Caspase-12)
-
Custom Antibody ServicesOriGene Antibodies for CASP12
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-
Abcam antibodies for CASP12
- Invitrogen Antibodies for CASP12
- antibodies-online Antibodies for CASP12: See all 27
- GeneTex CASP12 antibody for CASP12
-
Santa Cruz Biotechnology (SCBT) Antibodies for CASP12
Protein Products
- R&D Systems Peptides for CASP12 (Caspase-12)
-
OriGene Purified Proteins for CASP12
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- Novus Biologicals proteins for CASP12
- Search GeneTex for Proteins for CASP12
-
Abcam proteins for CASP12
Assay Products
Domains & Families for CASP12 Gene
Gene Families for CASP12 Gene
Protein Domains for CASP12 Gene
Suggested Antigen Peptide Sequences for CASP12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6UXS9- Family:
-
- Belongs to the peptidase C14A family.
Function for CASP12 Gene
Molecular function for CASP12 Gene
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008234 | cysteine-type peptidase activity | IEA | -- |
| GO:0097153 | NOT cysteine-type endopeptidase activity involved in apoptotic process | IKR | 12054529 |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CASP12 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CASP12 gene
- Search ViGene Biosciences for CASP12
miRNA Products
- Search ViGene Biosciences for CASP12
Inhibitory RNA Products
-
ViGene Biosciences ready-to-package AAV shRNAs for CASP12 gene
Clone Products
-
OriGene ORF clones in human for CASP12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CASP12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CASP12
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for CASP12 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CASP12 gene
-
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Flow Cytometry Products
No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CASP12 Gene
Localization for CASP12 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA | 10638761 |
| GO:0072557 | NOT IPAF inflammasome complex | IBA | -- |
| GO:0072559 | NOT NLRP3 inflammasome complex | IBA | -- |
| GO:0097169 | NOT AIM2 inflammasome complex | IBA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CASP12 Gene
Pathways & Interactions for CASP12 Gene
Pathways by source for CASP12 Gene
2 GeneTex pathways for CASP12 Gene
3 BioSystems pathways for CASP12 Gene
7 KEGG pathways for CASP12 Gene
2 Tocris pathways for CASP12 Gene
1 Qiagen pathway for CASP12 Gene
Interacting Proteins for CASP12 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0030968 | endoplasmic reticulum unfolded protein response | IEA | -- |
| GO:0042981 | regulation of apoptotic process | IEA | -- |
| GO:0050727 | NOT regulation of inflammatory response | IBA | -- |
Drugs & Compounds for CASP12 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| MG 101 |
|
110044-82-1 |
|
|
(3) Tocris Compounds for CASP12 Gene
Transcripts for CASP12 Gene
mRNA/cDNA for CASP12 Gene
- (1) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CASP12 Gene
- Caspase 12 (gene/pseudogene):
- Representative Sequences:
miRNA Products
- Search ViGene Biosciences for CASP12
Inhibitory RNA Products
-
ViGene Biosciences ready-to-package AAV shRNAs for CASP12 gene
Clone Products
-
OriGene ORF clones in human for CASP12
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- VectorBuilder custom plasmid, inducible vectors for CASP12
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for CASP12 Gene
mRNA differential expression in normal tissues according to GTEx for CASP12 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CASP12 Gene
NURSA nuclear receptor signaling pathways regulating expression of CASP12 Gene:
CASP12SOURCE GeneReport for Unigene cluster for CASP12 Gene:
Hs.476989mRNA Expression by UniProt/SwissProt for CASP12 Gene:
Q6UXS9-CASPC_HUMANEvidence on tissue expression from TISSUES for CASP12 Gene
- Lung(4.2)
- Nervous system(2.2)
- Heart(2)
Primer Products
-
OriGene qPCR primer pairs for CASP12
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP12 Gene
Orthologs for CASP12 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CASP12 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Casp12 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CASP12 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-233g6.8 35 |
|
ManyToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Nc 35 |
|
ManyToMany | |
| Dredd 35 |
|
ManyToMany |
- Species where no ortholog for CASP12 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CASP12 Gene
Paralogs for CASP12 Gene
(6) SIMAP similar genes for CASP12 Gene using alignment to 7 proteins:
Variants for CASP12 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CASP12 Gene
- 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.
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs497116 | other | 104,892,390(-) | GGATG(C/T)GAGAT | nc-transcript-variant, reference, stop-gained | |
| rs1000133900 | -- | 104,893,817(+) | TTCCC(C/T)TAGGG | intron-variant | |
| rs1000414834 | -- | 104,896,191(+) | AAGAA(A/T)AAGTG | intron-variant | |
| rs1000742290 | -- | 104,895,088(+) | GCTCA(A/G)TTAGC | intron-variant | |
| rs1000749196 | -- | 104,889,774(+) | TGATC(A/G)TTAAA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv413e212 | CNV | loss | 25503493 |
| esv2656719 | CNV | deletion | 23128226 |
| esv2750978 | CNV | gain | 17911159 |
| esv2759862 | CNV | loss | 17122850 |
| esv27913 | CNV | loss | 19812545 |
| esv3429799 | CNV | insertion | 20981092 |
| esv3627598 | CNV | loss | 21293372 |
| esv3627599 | CNV | loss | 21293372 |
| nsv1038877 | CNV | gain | 25217958 |
| nsv1040536 | CNV | loss | 25217958 |
| nsv1040784 | CNV | loss | 25217958 |
| nsv1046098 | CNV | loss | 25217958 |
| nsv1052674 | CNV | loss | 25217958 |
| nsv1054456 | CNV | loss | 25217958 |
| nsv556217 | CNV | loss | 21841781 |
| nsv826072 | CNV | loss | 20364138 |
| nsv832255 | CNV | loss | 17160897 |
| nsv8869 | CNV | gain+loss | 18304495 |
Relevant External Links for CASP12 Gene
Disorders for CASP12 Gene
Relevant External Links for CASP12
No disorders were found for CASP12 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASP12 Gene
Publications for CASP12 Gene
- Population distribution of the functional caspase-12 allele. (PMID: 16917906) Kachapati K. … Dean M. (Hum. Mutat. 2006) 2 3 4 46 64
- Spread of an inactive form of caspase-12 in humans is due to recent positive selection. (PMID: 16532395) Xue Y. … Tyler-Smith C. (Am. J. Hum. Genet. 2006) 2 3 4 64
- Human caspase 12 has acquired deleterious mutations. (PMID: 12054529) Fischer H. … Tschachler E. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 64
- Examination of association with candidate genes for diabetic nephropathy in a Mexican American population. (PMID: 20299368) Kim S. … Adler S.G. (Clin J Am Soc Nephrol 2010) 3 46 64
- Genetic variation of innate immune genes in HIV-infected african patients with or without oropharyngeal candidiasis. (PMID: 20577092) Plantinga T.S. … Netea M.G. (J. Acquir. Immune Defic. Syndr. 2010) 3 46 64
Products for CASP12 Gene
- R&D Systems Antibodies for CASP12 (Caspase-12)
- R&D Systems Peptides for CASP12 (Caspase-12)
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- Custom Antibody ServicesOriGene Antibodies for CASP12
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- Novus Biologicals Antibodies for CASP12
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- Abcam antibodies for CASP12
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- Santa Cruz Biotechnology (SCBT) Antibodies for CASP12
- Search Santa Cruz Biotechnology (SCBT) for CASP12 siRNA/shRNA
- Cyagen custom Knockout/knockin (KOKI) mouse models for CASP12
- VectorBuilder custom plasmid, inducible vectors for CASP12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CASP12
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CASP12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
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- (100) COMPARTMENTS
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- (154) TISSUES
- (155) Gene ORGANizer




