TNNT2 troponin T2, cardiac type
Gene ID: 7139, updated on 3-Apr-2024Gene type: protein coding
Also known as: CMH2; RCM3; TnTC; cTnT; CMD1D; CMPD2; LVNC6
- See all available tests in GTR for this gene
- Go to complete Gene record for TNNT2
- Go to Variation Viewer for TNNT2 variants
Summary
This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. GeneReviews: Not available | |
| Cardiomyopathy, familial restrictive, 3 | See labs |
| Dilated cardiomyopathy 1D | See labs |
| Hypertrophic cardiomyopathy 2 | See labs |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-15) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-11-15) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1q32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (201359014..201377680, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TNNT2 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
- TNNT2 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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