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FLASH GENE

Symbol

TNNT2

contributors: mct/npt/pgu - updated : 23-08-2011

HGNC name	troponin T2, cardiac
HGNC id	11949

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1D , CMH2 , RCM3

related resource

FHCMutationDatabase

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in end-stage heart failure constitutional     --over   of TNNT2 and NPPB are associated with increased risk of cardioembolic and other nonlacunar ischemic strokes

Susceptibility

to prominent left ventricular hypertrophy to idiopathic dilated cardiomyopathy

Variant & Polymorphism insertion/deletion	five-base pair insertion/deletion polymorphism in intron 3, associated to prominent left ventricular hypertrophy
	mutated in idiopathic dilated cardiomyopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

iIn mice, targeted disruption of Tnnt2 causes severe defects of myofibrillogenesis, which leads to early embryonic demise