TNNI2 troponin I2, fast skeletal type
Gene ID: 7136, updated on 19-Sep-2024Gene type: protein coding
Also known as: DA2B; FSSV; DA2B1; fsTnI; AMCD2B
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- Go to complete Gene record for TNNI2
- Go to Variation Viewer for TNNI2 variants
Summary
This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
Distal arthrogryposis type 2B1 | not available |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (1838981..1841678)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TNNI2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TNNI2 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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