TNNI3K (TNNI3 interacting kinase)

Gene

• Entrez ID: 51086
• Gene name: TNNI3 interacting kinase
• Gene symbol: TNNI3K
• Synonyms (NCBI Gene): CARK, CCDD
• Chromosome: 1
• Chromosome location: 1p31.1
• Summary: This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefS

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1444103	hsa-miR-186	CLIP-seq
MIRT1444104	hsa-miR-197	CLIP-seq
MIRT1444105	hsa-miR-5096	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002027	Process	Regulation of heart rate	IGI	23236294
GO:0002027	Process	Regulation of heart rate	IMP	24925317
GO:0004672	Function	Protein kinase activity	IDA	12721663
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	38424693
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	12721663, 18205602, 23369981, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12721663
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12721663, 18205602
GO:0005737	Component	Cytoplasm	IEA
GO:0006468	Process	Protein phosphorylation	IDA	12721663
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0036289	Process	Peptidyl-serine autophosphorylation	IMP	38424693
GO:0046872	Function	Metal ion binding	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	24925317
GO:0086069	Process	Bundle of His cell to Purkinje myocyte communication	IMP	23236294
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903779	Process	Regulation of cardiac conduction	IEA
GO:1903779	Process	Regulation of cardiac conduction	IGI	23236294

Other IDs

• MIM: 613932
• HGNC: 19661
• e!Ensembl: ENSG00000116783

Interactions View interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic	rs1294489336	RCV001807868	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial conduction disease	Likely pathogenic; Pathogenic	rs606231469, rs1662479663, rs202238194	RCV000148950 RCV000721145 RCV000768402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs202238194	RCV005405294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNNI3K-related disorder	Pathogenic	rs567089878	RCV004725344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT CARDIOMYOPATHY 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION SYSTEM DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ATRIAL TACHYARRHYTHMIA, INFRA-HISIAN CARDIAC CONDUCTION DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations