Property Summary

NCBI Gene PubMed Count 34
Grant Count 16
R01 Count 7
Funding $591,118.67
PubMed Score 20.47
PubTator Score 19.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -2.400 0.003
Atopic dermatitis -1.100 0.018
fibroadenoma 2.700 0.002
diabetes mellitus -1.400 0.015
interstitial cystitis -1.700 0.003
non-inflammatory breast cancer -1.200 0.026
pterygium -1.500 0.003

 MGI Term (1)

Gene RIF (11)

PMID Text
26374086 TNNI2 gene missense mutation is associated with distal arthrogryposis type 1.
23850728 report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism
22519952 Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18805052 Gene expression revealed up-regulation of pro-angiogenic (PGF), anti-apoptotics (BAG-1, BCL-2), heart development (TNNT2, TNNC1) and extracellular matrix remodelling (MMP-2, MMP-7) genes in SM.
18548613 Data found that fTnI normally associated with fast twitch skeletal muscle were present at significant levels in the thoracic aorta, and that fTnI transcripts were expressed in the smooth muscle layer of mouse blood vessels of all sizes.
18331830 These findings reveal a new function for TNNI2 as a co-activator of ERRalpha.
17393089 Implantation of stable human clone expressing fast-twitch skeletal muscle troponin I in female BALB/c nude mice inhibits primary tumor growth and suggests that grafts are self-inhibitory by halting angiogenesis.
16802141 study found a novel TNNI2 mutation in a Chinese family with distal arthrogryposis type 2B
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AA Sequence

MGDEEKRNRAITARRQHLKSVMLQIAATELEKEESRREAEKQNYLAEHCPPLHIPGSMSEVQELCKQLHA      1 - 70
KIDAAEEEKYDMEVRVQKTSKELEDMNQKLFDLRGKFKRPPLRRVRMSADAMLKALLGSKHKVCMDLRAN     71 - 140
LKQVKKEDTEKERDLRDVGDWRKNIEEKSGMEGRKKMFESES                                141 - 182
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Text Mined References (35)

PMID Year Title
26374086 2016 A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
23936387 2013 A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
23850728 2013 A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22519952 2012 Distal arthrogryposis: clinical and genetic findings.
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.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18805052 2008 Characterization of the paracrine effects of human skeletal myoblasts transplanted in infarcted myocardium.
18548613 2008 Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle.
18331830 2008 Fast skeletal muscle troponin I is a co-activator of estrogen receptor-related receptor alpha.
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