Details for Gene TNNT2

GENE NAME TNNT2
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000118194
UNIPROT ACCESSION NUMBER P45379
GO MOLECULAR FUNCTION ['troponin I binding', 'tropomyosin binding', 'protein-macromolecule adaptor activity', 'troponin C binding', 'protein binding', 'actin binding', 'protein-containing complex binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04260; hsa04261; hsa05410; hsa05414; R-HSA-390522; R-HSA-397014
4 combinations linked to TNNT2 OLI1800; OLI416; OLI1799; OLI1212
3 variants linked to TNNT2 TNNT2:c.247A>C, p.Asn83His; TNNT2:c.430C>T, p.Arg144Trp; TNNT2:c.742T>G,
2 diseases linked to TNNT2 Left ventricular noncompaction; Dilated cardiomyopathy

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