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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoimmune lymphoproliferative syndrome type 2A Pathogenic rs2126062115 RCV002249327
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs121909775 RCV002508110
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Hodgkin lymphoma Pathogenic rs28936699, rs121909775, rs398122800 RCV000008206
RCV000008207
RCV000008209
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune lymphoproliferative syndrome type 1 Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1, AUTOSOMAL DOMINANT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16579975, 25061812
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia LHGDN 12388546
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18716417
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 18716417
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 25061812
★☆☆☆☆
Found in Text Mining only
Arthralgia Arthralgia Pubtator 27378136 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 18823309
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 18823309 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 12353035
★☆☆☆☆
Found in Text Mining only