Symbol
| SMAD7
| contributors: mct - updated : 24-06-2015
|
HGNC name
| SMAD family member 7
|
HGNC id
| 6773
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --over
|  
|
in pancreatic carcinomas | constitutional
|  
|  
| --other
|  
|
aberrantly expressed in inflammatory bowel disease | constitutional
|  
|  
| --low
|  
|
and MADH3 upregulated may be responsible of TGF-beta hyperresponsiveness in scleroderma | tumoral
|  
| deletion
|  
|  
|
in colorectal cancers | constitutional
|  
|  
| --low
|  
|
in chronic obstructive pulmonary disease (COPD)by cigarette smocke | tumoral
|  
|  
| --over
|  
|
with ZEB1 downregulation, contribute to resistance to TGF-beta1-mediated growth suppression in ATLL(adult T-cell leukemia/lymphoma) ) | |
Susceptibility
|
to familial colorectal tumor |
Variant & Polymorphism
SNP
| increasing the risk of familial colorectal tumor |
|
|
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | | | |
induction of SMAD7 expression can be used as a therapeutic approach for some cancers that have defects in CASP8 expression | neuromuscular | myopathy | | |
may be an important therapeutic target for muscle disorders |
| | | |
| Smad7 mutant mice died in utero due to multiple defects in cardiovascular development, including ventricular septal defect and non-compaction, as well as outflow tract malformation | |
partial loss of Smad7 function in mice leads to compromised bone formation and enhanced bone resorption |
|
Smad7(-/-) mice showed reduced muscle mass, hypotrophy and hypoplasia of muscle fibres, as well as an increase in oxidative fibre types |