TNNI3 troponin I3, cardiac type [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNNI3provided by HGNC
Official Full Name: troponin I3, cardiac typeprovided by HGNC
Primary source: HGNC:HGNC:11947
See related: Ensembl:ENSG00000129991 MIM:191044; AllianceGenome:HGNC:11947
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Expression: Restricted expression toward heart (RPKM 1543.0) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55151767..55157732, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58245731..58251791, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55663135..55669100, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cardiac troponin I directly binds and inhibits mitochondrial ATP synthase with a noncanonical role in the post-ischemic heart.
Title: Cardiac troponin I directly binds and inhibits mitochondrial ATP synthase with a noncanonical role in the post-ischemic heart.
Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.
Title: Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.
Decreased intranuclear cardiac troponin I impairs cardiac autophagy through FOS/ATG5 in ageing hearts.
Title: Decreased intranuclear cardiac troponin I impairs cardiac autophagy through FOS/ATG5 in ageing hearts.
Impaired Relaxation in Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Pathogenic TNNI3 Mutation of Pediatric Restrictive Cardiomyopathy.
Title: Impaired Relaxation in Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Pathogenic TNNI3 Mutation of Pediatric Restrictive Cardiomyopathy.
Gene correction and overexpression of TNNI3 improve impaired relaxation in engineered heart tissue model of pediatric restrictive cardiomyopathy.
Title: Gene correction and overexpression of TNNI3 improve impaired relaxation in engineered heart tissue model of pediatric restrictive cardiomyopathy.
Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients With Acute Heart Failure.
Title: Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients With Acute Heart Failure.
Postoperative cardiac troponin I as an indicator of surgical outcomes: A systematic review.
Title: Postoperative cardiac troponin I as an indicator of surgical outcomes: A systematic review.
Prognostic value of high-sensitivity cardiac troponin I in patients with non-ischaemic heart failure: insights from China.
Title: Prognostic value of high-sensitivity cardiac troponin I in patients with non-ischaemic heart failure: insights from China.
[Efficacy analysis of high-sensitivity troponin I concentration and its changes in the diagnosis of acute myocardial infarction].
Title: [Efficacy analysis of high-sensitivity troponin I concentration and its changes in the diagnosis of acute myocardial infarction].
Prognostic value of high-sensitivity cardiac troponin I early after coronary artery bypass graft surgery.
Title: Prognostic value of high-sensitivity cardiac troponin I early after coronary artery bypass graft surgery.

Submit: New GeneRIF Correction See all GeneRIFs (306)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TNNI3 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Cardiomyopathy, familial restrictive, 1 MedGen: C1861861 OMIM: 115210 GeneReviews: Not available	not available
Dilated cardiomyopathy 1FF MedGen: C2750091 OMIM: 613286 GeneReviews: Not available	not available
Dilated cardiomyopathy 2A MedGen: C2678474 OMIM: 611880 GeneReviews: Dilated Cardiomyopathy Overview	not available
Hypertrophic cardiomyopathy 7 MedGen: C1860752 OMIM: 613690 GeneReviews: Not available	not available

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium channel inhibitor activity	IPI Inferred from Physical Interaction more info	PubMed
enables calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables troponin C binding	IPI Inferred from Physical Interaction more info	PubMed
enables troponin T binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ATP-dependent activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle contraction by calcium ion signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure by ischemic conditions	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of cardiac Troponin complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cardiac myofibril	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in sarcomere	TAS Traceable Author Statement more info	PubMed
part_of troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of troponin complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: troponin I, cardiac muscle

Names: cardiomyopathy, dilated 2A (autosomal recessive); troponin I type 3 (cardiac)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.