CASP12 (caspase 12 (gene/pseudogene))

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100506742
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase 12 (gene/pseudogene)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASP12
Synonyms (NCBI Gene) Gene synonyms aliases
CASP-12, CASP12P1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.3
Summary Summary of gene provided in NCBI Entrez 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 g
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608633 19004 HGNC
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease 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