Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51086
Gene name Gene Name - the full gene name approved by the HGNC.
TNNI3 interacting kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNNI3K
Synonyms (NCBI Gene) Gene synonyms aliases
CARK, CCDD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
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) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613932 19661 ENSG00000116783
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Glioblastoma Glioblastoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 37199186
Atrial Fibrillation Associate 24925317, 37199186
Cardiac Conduction System Disease Associate 24925317
Cardiomyopathy Dilated Associate 24925317, 36672924, 37199186
Feeding and Eating Disorders Associate 23929626
Heart Diseases Associate 24925317, 32529721, 34440456, 37199186
Immunologic Deficiency Syndromes Associate 24925317
Obesity Associate 21779088, 22513296, 23929626
Tachycardia Supraventricular Associate 37199186