Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
843
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASP10
Synonyms (NCBI Gene) Gene synonyms aliases
ALPS2, FLICE-2, FLICE2, MCH4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IBA
GO:0004197 Function Cysteine-type endopeptidase activity IDA 16916640, 16920334
GO:0004197 Function Cysteine-type endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity IMP 11717445, 21980415
GO:0004197 Function Cysteine-type endopeptidase activity TAS 8755496, 10412980
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601762 1500 ENSG00000003400
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
Tissue specificity TISSUE SPECIFICITY: Detectable in most tissues. Lowest expression is seen in brain, kidney, prostate, testis and colon.
Sequence
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
gastric cancer Gastric cancer rs121909775 N/A
non-hodgkin lymphoma Non-Hodgkin lymphoma rs398122800, rs28936699, rs121909775 N/A
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
Autoimmune Lymphoproliferative Disorder Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 1, autoimmune lymphoproliferative syndrome type 2A N/A N/A ClinVar, GenCC
Hypomyelination and Congenital Cataract hypomyelination and congenital cataract N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22843554, 34222478
Airway Obstruction Associate 18823309
Arthralgia Associate 27378136
Asthma Associate 18823309
Autoimmune Lymphoproliferative Syndrome Associate 12010812, 17999750, 27378136, 31309545, 32599613, 33995372, 34438083, 35628184
Autoimmune Lymphoproliferative Syndrome Type IIA Associate 10412980
Breast Neoplasms Associate 15767684, 19423537, 20978178, 31629678, 33735170
Carcinogenesis Associate 16443735, 23303631
Carcinoma Non Small Cell Lung Associate 22843554
Choriocarcinoma Associate 16443735