Property Summary

NCBI Gene PubMed Count 34
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 3.4e-03
Atopic dermatitis -1.100 1.8e-02
fibroadenoma 2.700 2.3e-03
diabetes mellitus -1.400 1.5e-02
interstitial cystitis -1.700 3.2e-03
non-inflammatory breast cancer -1.200 2.6e-02
pterygium -1.500 2.8e-03

 GO Function (1)

 MGI Phenotype (1)

Protein-protein Interaction (12)

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
15289369 Atrial re-expression of ssTnI during paroxysmal atrial fibrillation in patients does not seem to be part of the process of AF-associated cardiomyocyte dedifferentiation but seems to result from transient cardiomyocyte stress at the onset of AF.

AA Sequence

MGDEEKRNRAITARRQHLKSVMLQIAATELEKEESRREAEKQNYLAEHCPPLHIPGSMSEVQELCKQLHA      1 - 70
KIDAAEEEKYDMEVRVQKTSKELEDMNQKLFDLRGKFKRPPLRRVRMSADAMLKALLGSKHKVCMDLRAN     71 - 140
LKQVKKEDTEKERDLRDVGDWRKNIEEKSGMEGRKKMFESES                                141 - 182
//

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.
17393089 2007 Expression of the human fast-twitch skeletal muscle troponin I cDNA in a human ovarian carcinoma suppresses tumor growth.
17194691 2007 Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
16924011 2006 A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.
16802141 2006 A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15289369 2004 Troponin I isoform expression in human and experimental atrial fibrillation.
12809519 2003 Troponin I binds polycystin-L and inhibits its calcium-induced channel activation.
12592607 2003 Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12097349 2002 Interactive exploration of microarray gene expression patterns in a reduced dimensional space.
11470454 2001 Characteristics of the human ocular surface epithelium.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10721725 2000 Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2).
10077564 1999 Troponin I is present in human cartilage and inhibits angiogenesis.
9724539 1998 A recombinant monocysteine mutant (Ser to Cys-155) of fast skeletal troponin T: identification by cross-linking of a domain involved in a physiologically relevant interaction with troponins C and I.
9560191 1998 Crystal structure of troponin C in complex with troponin I fragment at 2.3-A resolution.
9448267 1998 Identification and mutagenesis of a highly conserved domain in troponin T responsible for troponin I binding: potential role for coiled coil interaction.
9016781 1997 Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast.
8987992 1996 Interaction of deletion mutants of troponins I and T: COOH-terminal truncation of troponin T abolishes troponin I binding and reduces Ca2+ sensitivity of the reconstituted regulatory system.
8681137 1996 Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization.
8148383 1994 Sequencing of a cDNA encoding the human fast-twitch skeletal muscle isoform of troponin I.
6847627 1983 Studies of the interaction of troponin I with proteins of the I-filament and calmodulin.
2365354 1990 cDNA sequence, tissue-specific expression, and chromosomal mapping of the human slow-twitch skeletal muscle isoform of troponin I.