CASP10 Chromosome 2
Caspase 10
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What This Gene Does
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 proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
"Caspases|Death effector domain containing|Death inducing signaling complex"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000003400
Associated Conditions (9)
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 1
CASP10-related disorder
Gastric cancer
Lymphoma
non-Hodgkin
familial
Hypomyelination and Congenital Cataract
Non-Hodgkin lymphoma
Key Variants
RS146233833
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS148939095
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS149912574
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS200935960
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS2126048239
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS369897442
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS535121774
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS552561721
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS747900630
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A, CASP10-related disorder
Health Risk
RS751728796
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS755555484
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
RS758187673
Conflicting classifications of pathogenicity
Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146233833 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS148939095 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS149912574 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS200935960 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS2126048239 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS369897442 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS535121774 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS552561721 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS747900630 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A, CASP10-related disorder |
| RS751728796 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS755555484 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS758187673 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS760580885 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 1 |
| RS779013005 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS781551128 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 1 |
| RS80358239 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune lymphoproliferative syndrome type 2A, Hypomyelination and Congenital Cataract, Autoimmune lymphoproliferative syndrome type 2A |
| RS121909775 | Health Risk | Pathogenic | Non-Hodgkin lymphoma, Gastric cancer, Non-Hodgkin lymphoma |
| RS2126062115 | Health Risk | Pathogenic | Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A |
| RS28936699 | Health Risk | Pathogenic | Non-Hodgkin lymphoma, Non-Hodgkin lymphoma |
| RS398122800 | Health Risk | Pathogenic | Non-Hodgkin lymphoma, Non-Hodgkin lymphoma |