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FLASH GENE
Symbol SMAD7 contributors: mct - updated : 24-06-2015
HGNC name SMAD family member 7
HGNC id 6773
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
SystemTypeDisorderPubmed
cancer  
induction of SMAD7 expression can be used as a therapeutic approach for some cancers that have defects in CASP8 expression
neuromuscularmyopathy 
may be an important therapeutic target for muscle disorders
ANIMAL & CELL MODELS
  • 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