Gene Gene information from NCBI Gene database.
Entrez ID 843
Gene name Caspase 10
Gene symbol CASP10
Synonyms (NCBI Gene)
ALPS2FLICE-2FLICE2MCH4
Chromosome 2
Chromosome location 2q33.1
Summary 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.
6
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.
436
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601762 1500 ENSG00000003400
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
524
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune lymphoproliferative syndrome type 2A Pathogenic rs2126062115 RCV002249327
Gastric cancer Pathogenic rs121909775 RCV002508110
Non-Hodgkin lymphoma Pathogenic rs28936699, rs121909775, rs398122800 RCV000008206
RCV000008207
RCV000008209
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Benign rs559244194, rs6753900 RCV005911167
RCV005896044
Autoimmune lymphoproliferative syndrome type 1 Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs121909776, rs367989998, rs528903184, rs41351949, rs374515060, rs41506545, rs111572089, rs886055420, rs886055426, rs747900630, rs760580885, rs781551128, rs201601111 RCV000986973
RCV000377588
RCV000333597
RCV000384446
RCV000272486
RCV000374646
RCV000276360
RCV000289141
RCV000392735
RCV000986974
RCV000986975
RCV000986971
RCV000986972
CASP10-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs759782468, rs374339540, rs762404236, rs770218906, rs2469385193, rs1189489209, rs952354110, rs200638628, rs114625983, rs772096617, rs769976012, rs748679960, rs41473647, rs747900630, rs774005416
View all (5 more)
RCV003405740
RCV003903728
RCV003403967
RCV003418901
RCV003391463
RCV003408396
RCV003402720
RCV003972407
RCV003940342
RCV004723494
RCV003896356
RCV003937339
RCV003942807
RCV003403483
RCV003980308
RCV003411810
RCV004745608
RCV003960380
RCV003942902
RCV003426007
Cervical cancer Benign rs6753900 RCV005896046
Associations from Text MiningDisease 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