Version 5.4
| Homo sapiens Gene: CASP12 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-69532.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | CASP12 | ||||||||||||||||||
| Gene Name | caspase 12 (gene/pseudogene) | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000204403 | ||||||||||||||||||
| Encoded Proteins |
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
caspase 12 (gene/pseudogene)
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| InnateDB Annotation | |||||||||||||||||||
| Summary |
Rat CASP12 binds to Human RIPK2 and displaces Human TRAF6 from a complex in human cells, inhibiting its ubiquitin ligase activity, and blunting NF-kappaB activation.
CASP12 deficiency enhances production of antimicrobial peptides, cytokines, and chemokines dependent on bacterial type III secretion and the Nod pathway.
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| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | polymorphic_pseudogene | ||||||||||||||||||
| Genomic Location | Chromosome 11:104885718-104898670 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q22.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
| No orthologs found for this gene | |||||||||||||||||||
| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME | |||||||||||||||||||
| KEGG |
Apoptosis pathway
Alzheimer's disease pathway
Amyotrophic lateral sclerosis (ALS) pathway
Prion diseases pathway
Protein processing in endoplasmic reticulum pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q6UXS9 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 100506742 | ||||||||||||||||||
| UniGene | Hs.476989 | ||||||||||||||||||
| RefSeq | NM_001191016 | ||||||||||||||||||
| HUGO | HGNC:19004 | ||||||||||||||||||
| OMIM | 608633 | ||||||||||||||||||
| CCDS | |||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF464191 AF464192 AF464193 AF464194 AF464195 AF486844 AF486845 AF486846 AF486847 AY358222 | ||||||||||||||||||
| GenPept | AAQ88589 | ||||||||||||||||||
| RNA Seq Atlas | 100506742 | ||||||||||||||||||