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CASP10 (caspase 10)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
843
Gene nameGene Name - the full gene name approved by the HGNC.
Caspase 10
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CASP10
SynonymsGene synonyms aliases
ALPS2, FLICE-2, FLICE2, MCH4
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo pro
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17860403 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant, intron variant, non coding transcript variant
rs28936699 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, 3 prime UTR variant
rs80358239 A>C,T Conflicting-interpretations-of-pathogenicity, likely-benign 3 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs121909775 C>A,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs121909776 T>C Uncertain-significance, pathogenic Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT053415 hsa-miR-624-3p Microarray 23807165
MIRT719199 hsa-miR-140-3p HITS-CLIP 19536157
MIRT719198 hsa-miR-6511a-3p HITS-CLIP 19536157
MIRT719197 hsa-miR-6511b-3p HITS-CLIP 19536157
MIRT719196 hsa-miR-4284 HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004197 Function Cysteine-type endopeptidase activity IDA 16920334
GO:0005515 Function Protein binding IPI 12884866, 12887920, 17159907, 17479112, 19557502, 21988832, 23541952, 25241761, 25416956
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0006508 Process Proteolysis IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q92851
Protein name Caspase-10 (CASP-10) (EC 3.4.22.63) (Apoptotic protease Mch-4) (FAS-associated death domain protein interleukin-1B-converting enzyme 2) (FLICE2) (ICE-like apoptotic protease 4) [Cleaved into: Caspase-10 subunit p23/17; Caspase-10 subunit p12]
Protein function Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector casp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01335 DED
20 101
Death effector domain
Domain
PF01335 DED
115 191
Death effector domain
Domain
PF00656 Peptidase_C14
284 498
Domain
Sequence
Sequence length 521
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Apoptosis
RIG-I-like receptor signaling pathway
TNF signaling pathway
Tuberculosis
Hepatitis B
  TP53 Regulates Transcription of Caspase Activators and Caspases
FasL/ CD95L signaling
TRAIL signaling
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoimmune lymphoproliferative disorder Autoimmune Lymphoproliferative Syndrome rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086, rs121913237, rs121913535, rs398122958, rs606231296, rs886039524, rs121913527, rs1554851718, rs1295207359, rs1564699214, rs1564686301, rs1564696849, rs1564691414, rs747862347, rs1589482683, rs1589488463, rs1589488640, rs1589488494, rs1589465172, rs1589478691, rs1589485636, rs778993919, rs1842954041, rs1848315820, rs1207744817, rs1848558128, rs1848671126, rs1848675068, rs1848019699 10412980, 17999750
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259
Unknown
Disease name Disease term dbSNP ID References
Aphthous ulcer Recurrent aphthous ulcer
Autoimmune hemolytic anemia Autoimmune hemolytic anemia
Autoimmune leukoproliferative disorder RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
B-cell lymphoma B-Cell Lymphomas

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