TNNI2 (troponin I2, fast skeletal type)

2007-07-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
AMCD2B,DA2B,DA2B1,FSSV,fsTnI
FUSION GENES

Other Information

Locus ID:

NCBI: 7136
MIM: 191043
HGNC: 11946
Ensembl: ENSG00000130598

Variants:

dbSNP: 7136
ClinVar: 7136
TCGA: ENSG00000130598
COSMIC: TNNI2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130598ENST00000252898P48788
ENSG00000130598ENST00000381905P48788
ENSG00000130598ENST00000381906P48788
ENSG00000130598ENST00000381911P48788
ENSG00000130598ENST00000617947A0A087WXS0

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188050522008Characterization of the paracrine effects of human skeletal myoblasts transplanted in infarcted myocardium.43
225199522012Distal arthrogryposis: clinical and genetic findings.13
168021412006A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
284360802017Genotype-specific pathogenic effects in human dilated cardiomyopathy.9
183318302008Fast skeletal muscle troponin I is a co-activator of estrogen receptor-related receptor alpha.7
185486132008Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle.7
152893692004Troponin I isoform expression in human and experimental atrial fibrillation.5
263740862016A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.4

Citation

Dessen P

TNNI2 (troponin I2, fast skeletal type)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47647/tnni2