TNNI3K
TNNI3 Interacting Kinase
Gene Information Card
| Symbol | TNNI3K |
|---|---|
| Full Name | TNNI3 Interacting Kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 51086 ncbi.nlm.nih.gov/gene/51086 |
| Ensembl ID | ENSG00000116783 |
| UniProt ID | Q59H18 |
| OMIM ID | 613932 |
| HGNC ID | 19661 |
| Aliases | CARK, FLJ10761, MGC33887 |
Description
TNNI3K (TNNI3 Interacting Kinase) is a protein-coding gene that encodes a serine/threonine kinase which interacts with cardiac troponin I (TNNI3). It is involved in cardiac muscle contraction and has been implicated in the regulation of cardiac function. Mutations in TNNI3K are associated with dilated cardiomyopathy and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy | Missense mutations in TNNI3K disrupt kinase activity, leading to impaired cardiac contractility | PMID: 25296534 |
| Cardiomyopathy, familial hypertrophic | Altered interaction with TNNI3 may affect sarcomere function | PMID: 27810068 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 2.1 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 15.0 | High expression |
| HeLa | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1319G>A (p.Arg440His) | Missense | Rare | Likely pathogenic; associated with dilated cardiomyopathy |
| c.2245C>T (p.Arg749Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg440His) reduce kinase activity, impairing TNNI3 phosphorylation.
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
Protein Summary
TNNI3K is a 835-amino acid serine/threonine kinase that localizes to the sarcomere and interacts with cardiac troponin I. It phosphorylates TNNI3 and other sarcomeric proteins, modulating cardiac contractility. The protein contains a kinase domain and a coiled-coil region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNNI3K Knockout HEK293 Cell Line | EDJ-KQ51278 | Human | 51086 | Details Get a Quote |
| FPGT-TNNI3K Knockout HEK293 Cell Line | EDJ-KQ52479 | Human | 100526835 | Details Get a Quote |
| TNNI3K Knockout HeLa Cell Line | EDJ-KQ56225 | Human | 51086 | Details Get a Quote |
| FPGT-TNNI3K Knockout HeLa Cell Line | EDJ-KQ60942 | Human | 100526835 | Details Get a Quote |
| TNNI3K Knockout A-549 Cell Line | EDJ-KQ64716 | Human | 51086 | Details Get a Quote |
| FPGT-TNNI3K Knockout A-549 Cell Line | EDJ-KQ69417 | Human | 100526835 | Details Get a Quote |
| TNNI3K Knockout HCT 116 Cell Line | EDJ-KQ73160 | Human | 51086 | Details Get a Quote |
| FPGT-TNNI3K Knockout HCT 116 Cell Line | EDJ-KQ77768 | Human | 100526835 | Details Get a Quote |
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