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Aliases for CASP12 Gene

Aliases for CASP12 Gene

  • Caspase 12 (Gene/Pseudogene) 2 3 5
  • Caspase 12 Pseudogene 1 2 3
  • CASP-12 3 4
  • Caspase 12 2
  • EC 3.4.22 63
  • CASP12P1 3

External Ids for CASP12 Gene

Previous HGNC Symbols for CASP12 Gene

  • CASP12P1

Previous GeneCards Identifiers for CASP12 Gene

  • GC11M104261
  • GC11M104757

Summaries for CASP12 Gene

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. Among its related pathways are Integrated Pancreatic Cancer Pathway and Corticotropin-releasing hormone. 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 CASP1.

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.

Tocris Summary for CASP12 Gene

  • 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 Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP12 Gene

Genomics for CASP12 Gene

Regulatory Elements for CASP12 Gene

Promoters for CASP12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CASP12 on UCSC Golden Path with GeneCards custom track

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

Genes around CASP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • D6RBN7

    Protein attributes for CASP12 Gene

    Size:
    341 amino acids
    Molecular mass:
    38865 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CASP12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP12 Gene

Proteomics data for CASP12 Gene at MOPED

Selected DME Specific Peptides for CASP12 Gene

Post-translational modifications for CASP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for CASP12 Gene

Gene Families for CASP12 Gene

Suggested Antigen Peptide Sequences for CASP12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXS9

UniProtKB/Swiss-Prot:

CASPC_HUMAN :
  • Contains 1 CARD domain.
  • Belongs to the peptidase C14A family.
Domain:
  • Contains 1 CARD domain.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP12: view

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.

Enzyme Numbers (IUBMB) for CASP12 Gene

No data available for Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CASP12 Gene

Localization for CASP12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASP12 Gene COMPARTMENTS Subcellular localization image for CASP12 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
mitochondrion 2
nucleus 2
cytoskeleton 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CASP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097169 NOT AIM2 inflammasome complex IBA --
genes like me logo Genes that share ontologies with CASP12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CASP12 Gene

Pathways & Interactions for CASP12 Gene

genes like me logo Genes that share pathways with CASP12: view

Pathways by source for CASP12 Gene

2 Tocris pathways for CASP12 Gene
1 Qiagen pathway for CASP12 Gene

Interacting Proteins for CASP12 Gene

SIGNOR curated interactions for CASP12 Gene

Activates:

Gene Ontology (GO) - Biological Process for CASP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030968 endoplasmic reticulum unfolded protein response IEA --
GO:0050727 NOT regulation of inflammatory response IBA --
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA --
GO:0097264 self proteolysis IEA --
genes like me logo Genes that share ontologies with CASP12: view

Drugs & Compounds for CASP12 Gene

(1) Drugs for CASP12 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(4) Additional Compounds for CASP12 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
MG 132
133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
PD 150606
179528-45-1
genes like me logo Genes that share compounds with CASP12: view

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:

Alternative Splicing Database (ASD) splice patterns (SP) for CASP12 Gene

No ASD Table

Relevant External Links for CASP12 Gene

GeneLoc Exon Structure for
CASP12
ECgene alternative splicing isoforms for
CASP12

Expression for CASP12 Gene

mRNA expression in normal human tissues for CASP12 Gene

mRNA differential expression in normal tissues according to GTEx for CASP12 Gene

This gene is overexpressed in Ovary (x4.4).

Protein differential expression in normal tissues from HIPED for CASP12 Gene

This gene is overexpressed in Lung (29.1), Breast (24.4), and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CASP12 Gene



SOURCE GeneReport for Unigene cluster for CASP12 Gene Hs.476989

mRNA Expression by UniProt/SwissProt for CASP12 Gene

Q6UXS9-CASPC_HUMAN
Tissue specificity: Detected in heart, kidney, liver, lung, pancreas, small intestine, spleen, stomach, thymus and testis.
genes like me logo Genes that share expression patterns with CASP12: view

Protein tissue co-expression partners for CASP12 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CASP12 Gene

Orthologs for CASP12 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP12 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CASP12 36
  • 40 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 36 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Casp12 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CASP12 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 40 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-233g6.8 36
  • 25 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Dredd 36
  • 10 (a)
ManyToMany
Nc 36
  • 13 (a)
ManyToMany
Species with no ortholog for CASP12:
  • 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)

Evolution for CASP12 Gene

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

Paralogs for CASP12 Gene

Paralogs for CASP12 Gene

(6) SIMAP similar genes for CASP12 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CASP12: view

Variants for CASP12 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CASP12 Gene

Q6UXS9-CASPC_HUMAN
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.

Sequence variations from dbSNP and Humsavar for CASP12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs484438 -- 104,887,308(+) TATCT(A/G)CAAAT intron-variant
rs476274 -- 104,895,273(+) aaaaa(G/T)gaaag intron-variant
rs497116 -- 104,892,390(-) GGATG(C/T)GAGAT nc-transcript-variant, reference, stop-gained
rs507894 -- 104,889,962(+) GTCAA(C/G)AGTTA intron-variant
rs508916 -- 104,885,583(+) cccca(A/G)aactt downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CASP12 Gene

Variant ID Type Subtype PubMed ID
esv2750978 CNV Gain 17911159
nsv826072 CNV Loss 20364138
nsv832255 CNV Loss 17160897
dgv433e1 CNV Complex 17122850
nsv8869 CNV Gain+Loss 18304495
esv2656719 CNV Deletion 23128226
nsv898355 CNV Gain 21882294
esv27913 CNV Loss 19812545

Variation tolerance for CASP12 Gene

Gene Damage Index Score: 3.31; 53.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP12 Gene

HapMap Linkage Disequilibrium report
CASP12
Human Gene Mutation Database (HGMD)
CASP12

Disorders for CASP12 Gene

Relevant External Links for CASP12

Genetic Association Database (GAD)
CASP12
Human Genome Epidemiology (HuGE) Navigator
CASP12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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

  1. Population distribution of the functional caspase-12 allele. (PMID: 16917906) Kachapati K. … Dean M. (Hum. Mutat. 2006) 2 3 4 48 67
  2. 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
  3. Human caspase 12 has acquired deleterious mutations. (PMID: 12054529) Fischer H. … Tschachler E. (Biochem. Biophys. Res. Commun. 2002) 2 3
  4. Characterization of seven murine caspase family members. (PMID: 9038361) Van de Craen M. … Fiers W. (FEBS Lett. 1997) 2 3
  5. The resveratrol attenuates ethanol-induced hepatocyte apoptosis via inhibiting ER-related caspase-12 activation and PDE activity in vitro. (PMID: 24224909) Liu L.Q. … Ke Z.J. (Alcohol. Clin. Exp. Res. 2014) 3

Products for CASP12 Gene

Sources for CASP12 Gene

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