CASP12 (caspase 12 (gene/pseudogene))

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 100506742
Gene name Caspase 12 (gene/pseudogene)
Gene symbol CASP12
Synonyms (NCBI Gene)
CASP-12CASP12P1
Chromosome 11
Chromosome location 11q22.3
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 g
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs497116 A>G Likely-benign, risk-factor Non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT863744 hsa-miR-192 CLIP-seq
MIRT863745 hsa-miR-215 CLIP-seq
MIRT863746 hsa-miR-3613-3p CLIP-seq
MIRT863747 hsa-miR-4263 CLIP-seq
MIRT863748 hsa-miR-576-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IKR 12054529
GO:0005737 Component Cytoplasm IBA
GO:0005783 Component Endoplasmic reticulum IDA 10638761
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608633 19004 HGNC
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXS9
Protein name Inactive caspase-12 (CASP-12)
Protein function May function as a negative regulator of inflammatory responses and innate immunity. May reduce cytokine release in response to bacterial lipopolysaccharide during infection. Reduces activation of NF-kappa-B in response to TNF (PubMed:15129283).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 6 → 91 Caspase recruitment domain Domain
PF00656 Peptidase_C14 101 → 337 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in lung. {ECO:0000269|PubMed:12054529}.
Sequence
Sequence length 341
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Protein processing in endoplasmic reticulum
Apoptosis
NOD-like receptor signaling pathway
Alzheimer disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Hepatitis B 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CASP12-related disorder Likely benign; Benign rs497116, rs181763844, rs1413779231, rs146027803, rs140309344, rs115100183, rs548925477, rs115063404, rs749654200 RCV003982821
RCV003907327
RCV003974337
RCV003897406
RCV003973940
RCV003973994
RCV003941920
RCV003936803
RCV003971689
Lung cancer Likely benign rs497116 RCV005887211
Sepsis, susceptibility to risk factor rs497116 RCV000002255
Thymoma Benign rs115100183 RCV005935544
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 24515649
Autoimmune Lymphoproliferative Syndrome Associate 24515649
Breast Neoplasms Associate 32682809, 35739271
Carcinoma Hepatocellular Associate 32682809
Diabetes Mellitus Associate 34140543
Infections Associate 24515649
Inflammation Associate 24515649, 28380444, 33924755
Kidney Neoplasms Associate 19603096
Lymphatic Metastasis Associate 31804677
Melanoma Cutaneous Malignant Associate 31557882