CASP10 (Caspase 10)
Apoptosis Initiator and Immune Regulator
Gene Information Card
| Symbol | CASP10 |
|---|---|
| Full Name | Caspase 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 843 ncbi.nlm.nih.gov/gene/843 |
| Ensembl ID | ENSG00000003400 |
| UniProt ID | Q92851 |
| OMIM ID | 601762 |
| HGNC ID | 1500 |
| Aliases | MCH4, FLICE2, ALPS2 |
Description
CASP10 (caspase 10) is a member of the cysteine-aspartic acid protease (caspase) family. It functions as an initiator caspase in the extrinsic apoptosis pathway, activated by death receptors such as Fas. Upon activation, it cleaves downstream effector caspases (e.g., caspase-3, -7) to execute programmed cell death. CASP10 also plays roles in immune regulation and T-cell homeostasis. Mutations in CASP10 are associated with autoimmune lymphoproliferative syndrome type II (ALPS II) and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome type II (ALPS2) | Loss-of-function mutations impair Fas-mediated apoptosis, leading to defective lymphocyte apoptosis and lymphoproliferation. | OMIM #603909; ClinVar |
| Gastric cancer | Reduced CASP10 expression or inactivating mutations may contribute to evasion of apoptosis. | COSMIC; NCBI PubMed |
| Non-Hodgkin lymphoma | Somatic mutations in CASP10 are found in some cases, potentially disrupting apoptosis. | COSMIC; NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Whole blood | 5.1 | Low |
| Small intestine | 4.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 8.7 | High expression |
| HeLa (cervical carcinoma) | 6.2 | Moderate expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
| MCF7 (breast carcinoma) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1022G>A (p.Arg341Gln) | Missense | Rare | Dominant-negative effect; associated with ALPS2 |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; reduced apoptosis |
| c.1339C>T (p.Arg447*) | Nonsense | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish caspase-10 proteolytic activity, impairing apoptosis.
Gain of Function (GOF)
Not well documented; no confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Mutations such as p.Arg341Gln interfere with wild-type caspase-10 function, leading to ALPS2.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity involved in apoptotic process | • cysteine-type endopeptidase activity |
| • protein binding | • apoptotic process |
| • extrinsic apoptotic signaling pathway via death domain receptors | • activation of cysteine-type endopeptidase activity involved in apoptotic process |
Pathways
• Fas signaling pathway (CD95)
• Extrinsic apoptosis pathway
• TNF signaling pathway
Protein Summary
Caspase-10 is a 521-amino acid protein (55 kDa) containing an N-terminal death effector domain (DED) and a C-terminal caspase domain. It is synthesized as a zymogen and activated by proteolytic cleavage. The active enzyme forms a heterotetramer of two large and two small subunits. It is primarily cytosolic and recruited to death-inducing signaling complex (DISC) upon death receptor activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP10 Knockout HEK293 Cell Line | EDJ-KQ1476 | Human | 843 | Details Get a Quote |
| CASP10 Knockout A-549 Cell Line | EDJ-KQ21054 | Human | 843 | Details Get a Quote |
| CASP10 Knockout HCT 116 Cell Line | EDJ-KQ21055 | Human | 843 | Details Get a Quote |
| CASP10 Knockout HeLa Cell Line | EDJ-KQ21056 | Human | 843 | Details Get a Quote |
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