CASP6 (Caspase 6) Gene
Key mediator of apoptosis and neurodegeneration
Gene Information Card
| Symbol | CASP6 |
|---|---|
| Full Name | caspase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 839 ncbi.nlm.nih.gov/gene/839 |
| Ensembl ID | ENSG00000138794 |
| UniProt ID | P55212 |
| OMIM ID | 601532 |
| HGNC ID | 1507 |
| Aliases | MCH2, CASP-6, caspase 6, apoptosis-related cysteine peptidase |
Description
CASP6 encodes caspase 6, a member of the cysteine-aspartic acid protease (caspase) family. Caspase 6 is an executioner caspase that cleaves multiple cellular substrates during apoptosis. It also plays roles in neuronal development, axon degeneration, and is implicated in neurodegenerative disorders such as Alzheimer and Huntington diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Caspase 6 cleaves tau and amyloid precursor protein, contributing to neurofibrillary tangles and amyloid-beta pathology | PMID: 15044694; NCBI Gene |
| Huntington disease | Caspase 6 cleaves huntingtin protein, generating toxic fragments that aggregate | PMID: 16751776; OMIM |
| Colorectal cancer | Reduced CASP6 expression may impair apoptosis, promoting tumorigenesis | PMID: 15696293; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Testis | 6.1 | Low |
| Spleen | 5.4 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cell line |
| SH-SY5Y | 10.1 | Neuroblastoma cell line |
| HeLa | 8.7 | Cervical carcinoma cell line |
| Jurkat | 6.4 | T-cell leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535G>A (p.Gly179Arg) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.674C>T (p.Thr225Met) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Likely loss of function; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) are predicted to abolish protein expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153) | • execution phase of apoptosis (GO:0097194) |
| • proteolysis (GO:0006508) | • apoptotic process (GO:0006915) |
| • cysteine-type endopeptidase activity (GO:0004197) |
Pathways
• Apoptosis (KEGG hsa04210)
• Alzheimer disease (KEGG hsa05010)
• Huntington disease (KEGG hsa05016)
Protein Summary
Caspase 6 is a 293-amino acid protein (32.5 kDa) that exists as a zymogen. Upon apoptotic signaling, it is cleaved into large (p18) and small (p11) subunits that form an active heterotetramer. It cleaves substrates after aspartic acid residues, including lamin A, tau, and huntingtin. Its activity is regulated by inhibitor of apoptosis proteins (IAPs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP6 Knockout HEK293 Cell Line | EDJ-KQ11992 | Human | 839 | Details Get a Quote |
| CASP6 Knockout HeLa Cell Line | EDJ-KQ18375 | Human | 839 | Details Get a Quote |
| CASP6 Knockout A-549 Cell Line | EDJ-KQ41831 | Human | 839 | Details Get a Quote |
| CASP6 Knockout HCT 116 Cell Line | EDJ-KQ41832 | Human | 839 | Details Get a Quote |
| CASP6 Knockout HAP1 Cell Line | EDC08144 | Human | 839 | Details Get a Quote |
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