|
Gene id |
51086 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TNNI3K Gene UCSC Ensembl |
|
Aliases |
CARK, CCDD |
|
Gene name |
TNNI3 interacting kinase |
|
Alternate names |
serine/threonine-protein kinase TNNI3K, cardiac ankyrin repeat kinase, cardiac troponin I-interacting kinase, |
|
Gene location |
1p31.1 (79087992: 79085022) Exons: 6 NC_000002.12
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
613932 |
Protein Summary
|
|
| Associated diseases |
References |
| Cardiac conduction disease with dilated cardiomyopathy | KEGG:H02125 |
| Cardiac conduction disease with dilated cardiomyopathy | KEGG:H02125 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|