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Symbol SMAD4 contributors: mct/pgu - updated : 27-10-2017
HGNC name SMAD family member 4
HGNC id 6770
corresponding disease(s) JPS , JPHT , MYHRS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in cervical cancer
constitutional germinal mutation      
in juvenile polyposis with malformative vessels and with a more aggressive digestive phenotype
tumoral   deletion    
in juvenile polyposis in biliary and pancreatic cancer, and in juvenile polyposis (mutational hotspot) with gastric polyposis
tumoral       loss of function
in pancreas cancer cells lines and in colorectal cancer (in progression)
constitutional       loss of function
is a genetically late event that occurs upon transition from premalignant stages to invasive and metastatic growth
tumoral     --low  
is a common feature of early-onset colorectal tumours as it is in colorectal cancers diagnosed in other age groups
constitutional       loss of function
inactivation in the lens/corneal ectoderm caused disruption in the development of the anterior segment
constitutional     --over  
sensitizes hematopoietic stem/progenitor cells to TGFB, resulting in growth arrest and apoptosis
tumoral     --low  
of RHOT1 and SMAD4 were significantly associated with lymph node metastasis and shorter survival in pancreatic cancer
Variant & Polymorphism
Candidate gene
Therapy target
  • inhibition of Smad4 SUMOylation impaired spatial learning and memory in rats by downregulating Tpm2, a gene associated with skeletal myopathies