Details for Gene TTN

GENE NAME TTN
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000155657
UNIPROT ACCESSION NUMBER A0A0A0MTS7
GO MOLECULAR FUNCTION ['enzyme binding', 'calmodulin binding', 'structural constituent of muscle', 'protein serine/threonine/tyrosine kinase activity', 'actinin binding', 'muscle alpha-actinin binding', 'protein kinase binding', 'telethonin binding', 'actin filament binding', 'identical protein binding', 'calcium ion binding', 'structural molecule activity conferring elasticity', 'protein serine kinase activity', 'ATP binding', 'protein tyrosine kinase activity', 'protein self-association', 'protein binding', 'protease binding', 'protein serine/threonine kinase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05410; hsa05414; R-HSA-109582; R-HSA-114608; R-HSA-390522; R-HSA-397014; R-HSA-76002; R-HSA-76005
17 combinations linked to TTN OLI1799; OLI232; OLI236; OLI1677; OLI1327; OLI672; OLI933; OLI231; OLI233; OLI1685; OLI1797; OLI1326; OLI1689; OLI1333; OLI237; OLI1798; OLI1678
20 variants linked to TTN TTN:c.32565_32566insAAG, p.Glu10855_Tyr10856insLys; TTN:c.62224G>A, p.Gly20742Arg; TTN:c.9359G>A, p.Arg3120Gln; TTN:c.93319C>T, p.Arg31107Cys; TTN:c.28269C>G, p.Asn9423Lys; TTN:c.6910G>A, p.Val2304Met; TTN:c.40485G>T, p.Lys13495Asn; TTN:p.Lys22368Asn; TTN:c.19481T>G, p.Leu6494Arg; TTN:c.87253C>T, ; TTN:c.20335A>T, ; TTN:c.97070A>C, ; TTN:c.75185A>C, ; TTN:c.91524G>C, p.Glu30508Asp; TTN:c.64442T>C, p.Leu21481Pro; TTN:c.73585G>C, p.Val24529Leu; TTN:c.10361-3546T>C, ; TTN:c.65042del, ; TTN:c.64688del, ; TTN:c.97427T>G,
8 diseases linked to TTN Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Limb-girdle muscular dystrophy; Non-Syndromic genetic keratoconus; Primary immunodeficiency; Rubinstein-Taybi syndrome; Left ventricular noncompaction; NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
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