Gene table of TTN : titin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TTN	OMIM link	Number of associated genes	genes
PS115200	DILATED CARDIOMYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	36	MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
600334	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TTN
611705	MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY	ClinVar, OMIM	link to OMIM	1	TTN
603689	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TTN
PS253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	24	SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC
PS160150	MYOPATHY, CENTRONUCLEAR	ClinVar	link to OMIM	6	DNM2, CCDC78, BIN1, MTMR14, TTN, MYF6
PS192600	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	25	CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3
603829	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	ClinVar	link to OMIM	13	DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP

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Annotation of the gene TTN

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Q8WZ42

Associated PDB IDs

Cytogenetic Band

2q31.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Hypertrophic cardiomyopathy (HCM)	hsa05410	6.21
Dilated cardiomyopathy	hsa05414	6.08

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Platelet degranulation	R-HSA-114608	6.68
Muscle contraction	R-HSA-397014	6.96
Platelet activation, signaling and aggregation	R-HSA-76002	5.15
Response to elevated platelet cytosolic Ca2+	R-HSA-76005	6.59
Striated Muscle Contraction	R-HSA-390522	7.81
Hemostasis	R-HSA-109582	3.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
purine nucleoside binding	GO:0001883	2.22
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
telethonin binding	GO:0031433	8.13
cation binding	GO:0043169	1.4
kinase binding	GO:0019900	3.32
nucleotide binding	GO:0000166	1.96
actin binding	GO:0003779	3.74
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
identical protein binding	GO:0042802	2.63
calcium ion binding	GO:0005509	3.17
protease binding	GO:0002020	5.08
protein kinase activity	GO:0004672	3.27
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
protein tyrosine kinase activity	GO:0004713	4.54
alpha-actinin binding	GO:0051393	6.6
structural molecule activity	GO:0005198	3.1
ribonucleoside binding	GO:0032549	2.22
actin filament binding	GO:0051015	4.93
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
structural constituent of muscle	GO:0008307	6.02
actinin binding	GO:0042805	6.3
protein self-association	GO:0043621	5.93
small molecule binding	GO:0036094	1.89
structural molecule activity conferring elasticity	GO:0097493	7.66
cytoskeletal protein binding	GO:0008092	3.02
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
muscle alpha-actinin binding	GO:0051371	7.54
kinase activity	GO:0016301	2.93
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl nucleotide binding	GO:0030554	2.4
adenyl ribonucleotide binding	GO:0032559	2.41
calmodulin binding	GO:0005516	4.55
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19