TNNI3K (TNNI3 interacting kinase)

2011-02-01  

Identity

HGNC
TNNI3K
LOCATION
1p31.1
LOCUSID
51086
ALIAS
CARK,CCDD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116783ENST00000326637Q59H18
ENSG00000116783ENST00000525480H0YDG1
ENSG00000116783ENST00000526236H0YCE9
ENSG00000116783ENST00000534020H0YE48

Expression (GTEx)

0
5
10
15
20
25
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 IDYearTitleCitations
336643092021A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.8
344404562021A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.5
336643092021A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.8
344404562021A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.5
322727982020New Insights into 4-Anilinoquinazolines as Inhibitors of Cardiac Troponin I-Interacting Kinase (TNNi3K).4
325297212020Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.8
322727982020New Insights into 4-Anilinoquinazolines as Inhibitors of Cardiac Troponin I-Interacting Kinase (TNNi3K).4
325297212020Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.8
303345792019Over-expression of TNNI3K is associated with early-stage carcinogenesis of cholangiocarcinoma.6
315896062019Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency.23
303345792019Over-expression of TNNI3K is associated with early-stage carcinogenesis of cholangiocarcinoma.6
315896062019Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency.23
287448162018ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies.14
293556812018Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.16
287448162018ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies.14

Citation

Dessen P

TNNI3K (TNNI3 interacting kinase)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52080/tnni3k-(tnni3-interacting-kinase)