Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	51086
Gene name	TNNI3 interacting kinase
Gene symbol	TNNI3K
Synonyms (NCBI Gene)	CARKCCDD
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

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

24 Show/Hide all (24)

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

MIM	HGNC	e!Ensembl
613932	19661	ENSG00000116783

Interactions View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (21)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIAL DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ 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	32529721	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	12721663, 19763165, 23085512, 24925317, 25791106, 29355681, 30010057, 33084860, 35781726, 37628941, 38424693	★★★★★ ★★☆☆☆ 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	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★★★★ ★★☆☆☆ 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	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23563607, 31504550	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FPGT-TNNI3K	5	["Dilated cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Bronchial disease","Cardiac conduction disease","Meniere disease"]	[]	5	["Disgenet (Arrhythmogenic right ventricular cardiomyopathy)","GWAS catalog (Bronchial disease)","Disgenet (Cardiac conduction disease)","Disgenet (Dilated cardiomyopathy)","Disgenet (Meniere disease)"]
C2orf49	2	["Dilated cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy"]	[]	2	["Disgenet (Arrhythmogenic right ventricular cardiomyopathy)","Disgenet (Dilated cardiomyopathy)"]
TNNC1	2	["Dilated cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy"]	[]	4	["Disgenet (Arrhythmogenic right ventricular cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","ClinGen (Dilated cardiomyopathy)","GWAS catalog (Dilated cardiomyopathy)"]
TJP1	2	["Dilated cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy"]	[]	2	["Disgenet (Arrhythmogenic right ventricular cardiomyopathy)","Disgenet (Dilated cardiomyopathy)"]
OBSCN	2	["Dilated cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy"]	[]	4	["Disgenet (Arrhythmogenic right ventricular cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","ClinGen (Dilated cardiomyopathy)","GWAS catalog (Dilated cardiomyopathy)"]

TNNI3K (TNNI3 interacting kinase)

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