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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CSX , DUP5QD , ASD7 , CHNG5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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