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; OLI1212; OLI1799; OLI416 |
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 |