TNNI3K (TNNI3 interacting kinase)

2011-02-01 Affiliation

Identity

HGNC

TNNI3K

LOCATION

1p31.1

LOCUSID

51086

ALIAS

CARK,CCDD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51086
MIM: 613932
HGNC: 19661
Ensembl: ENSG00000116783

Variants:

dbSNP: 51086
ClinVar: 51086
TCGA: ENSG00000116783
COSMIC: TNNI3K

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000116783	ENST00000326637	Q59H18
ENSG00000116783	ENST00000525480	H0YDG1
ENSG00000116783	ENST00000526236	H0YCE9
ENSG00000116783	ENST00000534020	H0YE48

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12721663	2003	Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I.	15
18552163	2008	Overexpression of TNNI3K, a cardiac-specific MAP kinase, promotes P19CL6-derived cardiac myogenesis and prevents myocardial infarction-induced injury.	11
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
20808825	2010	Novel association strategy with copy number variation for identifying new risk Loci of human diseases.	11
24925317	2014	TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.	9
21314842	2011	Adenovirus-mediated overexpression of cardiac troponin I-interacting kinase promotes cardiomyocyte hypertrophy.	8
20569525	2010	Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier.	7
23085512	2013	Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction.	7
18205602	2007	AOP-1 interacts with cardiac-specific protein kinase TNNI3K and down-regulates its kinase activity.	6

Citation

Dessen P

TNNI3K (TNNI3 interacting kinase)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52080/tnni3k