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FLASH GENE
Symbol NKX2-5 contributors: mct/npt/pgu - updated : 01-06-2017
HGNC name NK2 transcription factor related, locus 5 (Drosophila)
HGNC id 2488
ASSOCIATED DISORDERS
corresponding disease(s) CSX , DUP5QD , ASD7 , CHNG5
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation deletion    
novel mechanism of disease in complex congenital heart defect(ventricular or atrioventricular septal defect))
constitutional     --over  
overexpression and its consequent effects on CX40 and CX43 provide a plausible molecular mechanism for cardiac conduction defects in DM1 (myotonic dystrophy 1)
constitutional germinal mutation      
interacting with GATA4 in causing heart septation defects (ASD)
Susceptibility
  • to thyroid dysgenensis (TD)
  • to systemic lupus erythematosus (SLE)
  • to accessory atrioventricular connections
  • Variant & Polymorphism
  • three heterozygous missense changes (R25C, A119S, and R161P) in four patients with TD
  • SNPs related to an increased risk for SLE
  • Candidate gene for congenital heart defects in deletion and partial trisomy of distal 5q
    Marker
    Therapy target
    ANIMAL & CELL MODELS