Symbol
| SPINT2
| contributors: mct - updated : 15-12-2016
|
HGNC name
| serine peptidase inhibitor, Kunitz type, 2
|
HGNC id
| 11247
|
corresponding disease(s)
|
CSODS
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --over
|  
|
in pancreatic cancer | tumoral
|  
|  
| --low
|  
|
frequently hypermethylated and underexpressed in HCC | tumoral
|  
|  
| --low
|  
|
in ovarian and cervical cancers | tumoral
|  
|  
|  
|  
|
silenced by promoter hypermethylation in pediatric medulloblastoma | tumoral
|  
|  
| --low
|  
|
hypermethylated in RCC | tumoral
|  
|  
| --low
|  
|
in myelodysplastic syndromes and modulates cell-cell adhesion | constitutional
|  
|  
| --over
|  
|
of SPINT1 and SPINT2 in the liver in cholangiopathies with ductular reactions which are possibly involved in liver fibrosis and hepatic differentiation | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | reproductive | ovary | |
could be considered a therapeutic target for treatment approches in ovarian and cervical cancers | cancer | reproductive | breast | |
SPINT2 expression in breast cancer correlates with tumor aggressiveness | cancer | reproductive | breast | |
low level of SPINT2 in the breast cancer tissues is associated with an overall poor outlook | cancer | reproductive | uterus | |
could be considered as therapeutic targets and used as favorable prognosis markers for endometrial cancer |
| | | |
| reduced Prss8 activity restores placental differentiation, embryonic survival, and neural tube closure in Spint2–deficient mice |