TNNI3 troponin I3, cardiac type

Gene ID: 7137, updated on 23-Mar-2024
Gene type: protein coding
Also known as: CMH7; RCM1; cTnI; CMD2A; TNNC1; CMD1FF

Summary

Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Cardiomyopathy, familial restrictive, 1 MedGen: C1861861OMIM: 115210GeneReviews: Not available	See labs
Dilated cardiomyopathy 1FF MedGen: C2750091OMIM: 613286GeneReviews: Not available	See labs
Dilated cardiomyopathy 2A MedGen: C2678474OMIM: 611880GeneReviews: Dilated Cardiomyopathy Overview	See labs
Hypertrophic cardiomyopathy 7 MedGen: C1860752OMIM: 613690GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2023-05-25) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-05-25) ClinGen Genome Curation Page

Genomic context

Location:: 19q13.42

Sequence:: Chromosome: 19; NC_000019.10 (55151767..55157732, complement)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TNNI3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TNNI3 homepage - Leiden Muscular Dystrophy pages
Variation Viewer
Related Variants

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