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FLASH GENE
Symbol ZFPM2 contributors: mct/npt - updated : 02-05-2018
HGNC name zinc finger protein, multitype 2
HGNC id 16700
ASSOCIATED DISORDERS
corresponding disease(s) SRXY9 , CTHD1 , DIH3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in some sporadic cases of tetralogy of Fallot
constitutional   translocation   loss of function
truncated transcript associated with an atrial septal defect and gonadal dysgenesis in 1 patient
constitutional     --over  
in cardiomyopathy (Rouf 2008)
constitutional germinal mutation      
result in primary pulmonary and diaphragmatic defects (Ackerman 2005)
Susceptibility to glioma
Variant & Polymorphism insertion/deletion
  • insertion-deletion polymorphism rs71305152 was significantly associated with gliomas
  • Candidate gene to cardiac outflow tract defects
    Marker
    Therapy target
    ANIMAL & CELL MODELS