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Aliases for TNNI3 Gene

Aliases for TNNI3 Gene

  • Troponin I Type 3 (Cardiac) 2 3
  • Cardiomyopathy, Dilated 2A (Autosomal Recessive) 2 3
  • CMD1FF 3 6
  • CMD2A 3 6
  • TNNC1 3 4
  • CMH7 3 6
  • RCM1 3 6
  • Troponin I, Cardiac Muscle 3
  • Troponin I, Cardiac 2
  • Cardiac Troponin I 4
  • CTnI 3

External Ids for TNNI3 Gene

Previous HGNC Symbols for TNNI3 Gene

  • CMD2A

Previous GeneCards Identifiers for TNNI3 Gene

  • GC19M056535
  • GC19M056094
  • GC19M060340
  • GC19M060354
  • GC19M055663
  • GC19M051986

Summaries for TNNI3 Gene

Entrez Gene Summary for TNNI3 Gene

  • 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). [provided by RefSeq, Jul 2008]

GeneCards Summary for TNNI3 Gene

TNNI3 (Troponin I Type 3 (Cardiac)) is a Protein Coding gene. Diseases associated with TNNI3 include cardiomyopathy, familial hypertrophic, 7 and cardiomyopathy, familial restrictive, 1. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include actin binding and protein domain specific binding. An important paralog of this gene is TNNI1.

UniProtKB/Swiss-Prot for TNNI3 Gene

  • Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Wiki entry for TNNI3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNI3 Gene

Genomics for TNNI3 Gene

Regulatory Elements for TNNI3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TNNI3 Gene

Start:
55,151,767 bp from pter
End:
55,157,773 bp from pter
Size:
6,007 bases
Orientation:
Minus strand

Genomic View for TNNI3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNNI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNI3 Gene

Proteins for TNNI3 Gene

  • Protein details for TNNI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19429-TNNI3_HUMAN
    Recommended name:
    Troponin I, cardiac muscle
    Protein Accession:
    P19429
    Secondary Accessions:

    Protein attributes for TNNI3 Gene

    Size:
    210 amino acids
    Molecular mass:
    24008 Da
    Quaternary structure:
    • Binds to actin and tropomyosin. Interacts with TRIM63. Interacts with STK4/MST1.

    Three dimensional structures from OCA and Proteopedia for TNNI3 Gene

neXtProt entry for TNNI3 Gene

Proteomics data for TNNI3 Gene at MOPED

Post-translational modifications for TNNI3 Gene

  • Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction (By similarity). Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNI3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TNNI3 (TNNI3)

No data available for DME Specific Peptides for TNNI3 Gene

Domains for TNNI3 Gene

Protein Domains for TNNI3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P19429

UniProtKB/Swiss-Prot:

TNNI3_HUMAN :
  • P19429
Family:
  • Belongs to the troponin I family.
genes like me logo Genes that share domains with TNNI3: view

No data available for Gene Families for TNNI3 Gene

Function for TNNI3 Gene

Molecular function for TNNI3 Gene

GENATLAS Biochemistry: troponin I3,inhibitory subunit,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration cardiac muscle,organized in pair with TNNT1
UniProtKB/Swiss-Prot Function: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Ontology (GO) - Molecular Function for TNNI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 10806205
GO:0005515 protein binding IPI 10806205
GO:0019855 calcium channel inhibitor activity IPI 12809519
GO:0019901 protein kinase binding IPI 12721663
GO:0019904 protein domain specific binding IPI 11984006
genes like me logo Genes that share ontologies with TNNI3: view
genes like me logo Genes that share phenotypes with TNNI3: view

Animal Models for TNNI3 Gene

MGI Knock Outs for TNNI3:

Animal Model Products

miRNA for TNNI3 Gene

miRTarBase miRNAs that target TNNI3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TNNI3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TNNI3 Gene

Localization for TNNI3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNNI3 Gene COMPARTMENTS Subcellular localization image for TNNI3 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TNNI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA 10806205
GO:0030016 myofibril --
GO:0030017 sarcomere TAS 16754800
genes like me logo Genes that share ontologies with TNNI3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNI3 Gene

Pathways for TNNI3 Gene

genes like me logo Genes that share pathways with TNNI3: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for TNNI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis ISS --
GO:0001980 regulation of systemic arterial blood pressure by ischemic conditions ISS --
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0006937 regulation of muscle contraction --
GO:0006940 regulation of smooth muscle contraction IEA --
genes like me logo Genes that share ontologies with TNNI3: view

Compounds for TNNI3 Gene

(1) HMDB Compounds for TNNI3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for TNNI3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide
target

(4) Novoseek inferred chemical compound relationships for TNNI3 Gene

Compound -log(P) Hits PubMed IDs
creatinine 48.3 17
lactate 20.8 2
calcium 0.759 5
potassium 0 2
genes like me logo Genes that share compounds with TNNI3: view

Transcripts for TNNI3 Gene

Unigene Clusters for TNNI3 Gene

Troponin I type 3 (cardiac):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TNNI3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TNNI3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNNI3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - - - -
SP2: - -
SP3:
SP4: -

Relevant External Links for TNNI3 Gene

GeneLoc Exon Structure for
TNNI3
ECgene alternative splicing isoforms for
TNNI3

Expression for TNNI3 Gene

mRNA expression in normal human tissues for TNNI3 Gene

mRNA differential expression in normal tissues according to GTEx for TNNI3 Gene

This gene is overexpressed in Heart - Left Ventricle (38.8) and Heart - Atrial Appendage (13.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TNNI3 Gene

SOURCE GeneReport for Unigene cluster for TNNI3 Gene Hs.709179

genes like me logo Genes that share expressions with TNNI3: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TNNI3 Gene

Orthologs for TNNI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TNNI3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNI3 35
  • 99.63 (n)
  • 99.44 (a)
TNNI3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC511094 35
  • 88.57 (n)
  • 92.86 (a)
TNNI3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNNI3 35
  • 90.95 (n)
  • 95.24 (a)
TNNI3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnni3 35
  • 88.89 (n)
  • 92.86 (a)
Tnni3 16
Tnni3 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNNI3 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tnni3 35
  • 87.72 (n)
  • 93.3 (a)
lizard
(Anolis carolinensis)
Reptilia TNNI3 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnni3 35
  • 71.52 (n)
  • 75.38 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-206m15.8 36
  • 49 (a)
ManyToMany
tnni1al 36
  • 58 (a)
ManyToMany
tnni1c 36
  • 57 (a)
ManyToMany
zgc:101560 36
  • 50 (a)
ManyToMany
zgc:101560 36
  • 51 (a)
ManyToMany
zgc:112242 36
  • 56 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17669 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11013 36
  • 45 (a)
OneToMany
Species with no ortholog for TNNI3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNNI3 Gene

ENSEMBL:
Gene Tree for TNNI3 (if available)
TreeFam:
Gene Tree for TNNI3 (if available)

Paralogs for TNNI3 Gene

Paralogs for TNNI3 Gene

genes like me logo Genes that share paralogs with TNNI3: view

Variants for TNNI3 Gene

Sequence variations from dbSNP and Humsavar for TNNI3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1313313 -- 55,153,811(-) ttttG(A/C/T)GATGG intron-variant
rs1314346 -- 55,153,809(-) TGCTG(C/T)CCAGG intron-variant
rs2278281 -- 55,156,829(-) TATCC(A/C)AAGGA intron-variant
rs2288528 -- 55,156,132(-) TCTTC(A/T)GCTCG intron-variant
rs2288529 -- 55,154,321(-) GACTG(C/G)TAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TNNI3 Gene

Variant ID Type Subtype PubMed ID
nsv912451 CNV Loss 21882294
esv1785452 CNV Insertion 17803354
esv2485681 CNV Deletion 19546169

Relevant External Links for TNNI3 Gene

HapMap Linkage Disequilibrium report
TNNI3
Human Gene Mutation Database (HGMD)
TNNI3
Locus Specific Mutation Databases (LSDB)
TNNI3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNI3 Gene

Disorders for TNNI3 Gene

(4) OMIM Diseases for TNNI3 Gene (191044)

UniProtKB/Swiss-Prot

TNNI3_HUMAN
  • Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:11815426, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:9241277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269 PubMed:12531876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 2A (CMD2A) [MIM:611880]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:15070570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:19590045, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for TNNI3 Gene

Disease -log(P) Hits PubMed IDs
cardiomyopathy restrictive 70.2 5
cardiomyopathy 54 1
dilated cardiomyopathy 48 2
death sudden cardiac 47.7 1
heart failure 45.5 6

Relevant External Links for TNNI3

GeneTests
TNNI3
GeneReviews
TNNI3
Genetic Association Database (GAD)
TNNI3
Human Genome Epidemiology (HuGE) Navigator
TNNI3
genes like me logo Genes that share disorders with TNNI3: view

Publications for TNNI3 Gene

  1. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. (PMID: 9241277) Kimura A. … Sasazuki T. (Nat. Genet. 1997) 2 3 4 23
  2. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PMID: 16199542) Ingles J. … Semsarian C. (J. Med. Genet. 2005) 3 4 23 48
  3. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. (PMID: 19035361) Andersen P.S. … Bundgaard H. (Hum. Mutat. 2009) 3 23 48
  4. Shared genetic causes of cardiac hypertrophy in children and adults. (PMID: 18403758) Morita H. … Seidman C.E. (N. Engl. J. Med. 2008) 3 23 48
  5. Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients. (PMID: 17101185) GarcA-a-Castro M. … Coto E. (Int. J. Cardiol. 2007) 3 23 48

Products for TNNI3 Gene

Sources for TNNI3 Gene

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