GenTIGS

Troponin I3, cardiac type (TNNI3) Associated conditions: 1. Cardiomyopathy, familial restrictive, 1 2. Restrictive cardiomyopathy

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000363.5	NP_000354.4	NC_000019.10	(55151766..55157731, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1389 reference articles

Variant Information Troponin I3, cardiac type (TNNI3) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Troponin I3, cardiac type (TNNI3)

ClinVar variants:Revealing mutagenic patterns

GO Term of Troponin I3, cardiac type (TNNI3)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISS	involved_in	vasculogenesis	Process	-
2	Homo sapiens	ISS	involved_in	regulation of systemic arterial blood pressure by ischemic conditions	Process	-
3	Homo sapiens	IBA	involved_in	skeletal muscle contraction	Process	-
4	Homo sapiens	IDA	enables	actin binding	Function	10806205
5	Homo sapiens	IEA	enables	actin binding	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	10806205 12525172 12721663 12809519 12840750 16516408 18986304 21569246 23369981 25910212 28514442 29997244 32296183 32814053 33961781
7	Homo sapiens	IEA	located_in	cytoplasm	Component	-
8	Homo sapiens	TAS	located_in	cytosol	Component	-
9	Homo sapiens	IBA	part_of	troponin complex	Component	-
10	Homo sapiens	IDA	part_of	troponin complex	Component	7957210 10806205 10850966 12093807
11	Homo sapiens	IEA	part_of	troponin complex	Component	-
12	Homo sapiens	ISS	involved_in	intracellular calcium ion homeostasis	Process	-
13	Homo sapiens	IEA	involved_in	regulation of smooth muscle contraction	Process	-
14	Homo sapiens	ISS	involved_in	heart development	Process	-
15	Homo sapiens	IMP	involved_in	regulation of cardiac muscle contraction by calcium ion signaling	Process	25771144
16	Homo sapiens	IPI	enables	calcium channel inhibitor activity	Function	12809519
17	Homo sapiens	IPI	enables	protein kinase binding	Function	12721663
18	Homo sapiens	IPI	enables	protein domain specific binding	Function	11984006
19	Homo sapiens	IEA	located_in	myofibril	Component	-
20	Homo sapiens	IEA	located_in	sarcomere	Component	-
21	Homo sapiens	NAS	located_in	sarcomere	Component	12840750
22	Homo sapiens	TAS	located_in	sarcomere	Component	16754800
23	Homo sapiens	NAS	involved_in	muscle filament sliding	Process	12840750
24	Homo sapiens	IPI	enables	troponin C binding	Function	7957210 11735257 15542288
25	Homo sapiens	IPI	enables	troponin T binding	Function	15542288
26	Homo sapiens	IDA	involved_in	negative regulation of ATP-dependent activity	Process	7957210 11735257
27	Homo sapiens	IMP	involved_in	negative regulation of ATP-dependent activity	Process	10806205
28	Homo sapiens	NAS	involved_in	negative regulation of ATP-dependent activity	Process	12840750
29	Homo sapiens	IEA	located_in	contractile muscle fiber	Component	-
30	Homo sapiens	IPI	enables	calcium-dependent protein binding	Function	7957210
31	Homo sapiens	IPI	enables	actin filament binding	Function	25771144
32	Homo sapiens	IMP	involved_in	ventricular cardiac muscle tissue morphogenesis	Process	11815426 16754800
33	Homo sapiens	IMP	involved_in	heart contraction	Process	12531876
34	Homo sapiens	IBA	involved_in	cardiac muscle contraction	Process	-
35	Homo sapiens	IEA	involved_in	cardiac muscle contraction	Process	-
36	Homo sapiens	IMP	involved_in	cardiac muscle contraction	Process	11735257
37	Homo sapiens	NAS	involved_in	cardiac muscle contraction	Process	12840750
38	Homo sapiens	IMP	located_in	cardiac myofibril	Component	25771144
39	Homo sapiens	IMP	part_of	cardiac Troponin complex	Component	25771144