Identity
HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
AMCD2B,DA2B,DA2B1,FSSV,fsTnI
FUSION GENES
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: 7136
MIM: 191043
HGNC: 11946
Ensembl: ENSG00000130598
Variants:
dbSNP: 7136
ClinVar: 7136
TCGA: ENSG00000130598
COSMIC: TNNI2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36631501 | 2023 | Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism. | 1 |
| 36631501 | 2023 | Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism. | 1 |
| 36069346 | 2022 | A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family. | 2 |
| 36069346 | 2022 | A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family. | 2 |
| 33683712 | 2021 | Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy. | 9 |
| 33683712 | 2021 | Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy. | 9 |
| 29663169 | 2018 | Troponin I2 as a Specific Biomarker for Prediction of Peritoneal Metastasis in Gastric Cancer. | 18 |
| 29663169 | 2018 | Troponin I2 as a Specific Biomarker for Prediction of Peritoneal Metastasis in Gastric Cancer. | 18 |
| 28436080 | 2017 | Genotype-specific pathogenic effects in human dilated cardiomyopathy. | 21 |
| 28436080 | 2017 | Genotype-specific pathogenic effects in human dilated cardiomyopathy. | 21 |
| 26374086 | 2016 | A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. | 6 |
| 26374086 | 2016 | A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. | 6 |
| 23850728 | 2013 | A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. | 2 |
| 23850728 | 2013 | A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. | 2 |
| 22519952 | 2012 | Distal arthrogryposis: clinical and genetic findings. | 19 |
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-(troponin-i2-fast-skeletal-type)
