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Aliases for TNNI3 Gene

Aliases for TNNI3 Gene

  • Troponin I3, Cardiac Type 2 3 5
  • Cardiomyopathy, Dilated 2A (Autosomal Recessive) 2 3
  • Troponin I Type 3 (Cardiac) 2 3
  • TNNC1 3 4
  • Troponin I, Cardiac Muscle 3
  • Cardiac Troponin I 4
  • Troponin I Type 3 2
  • CMD1FF 3
  • CMD2A 3
  • CMH7 3
  • RCM1 3
  • 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 I3, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNI3 include Cardiomyopathy, Dilated, 2A and Cardiomyopathy, Hypertrophic, 7. Among its related pathways are Activation of cAMP-Dependent PKA and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include protein kinase 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNI3 Gene

Genomics for TNNI3 Gene

Regulatory Elements for TNNI3 Gene

Enhancers for TNNI3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G055158 1.4 Ensembl ENCODE 20 -2.6 -2583 3.9 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A ZNF2 ZNF143 ZNF263 SP3 SP5 NAT14 TNNI3 FIZ1 U2AF2 LENG8-AS1 ZNF580 PPP1R12C DNAAF3 LOC101930593 ENSG00000267110
GH19G055156 0.9 ENCODE 19.4 +0.7 708 2.1 HDAC1 PKNOX1 DEAF1 SIN3A GLIS2 ELK1 EGR1 FOS EGR2 SP3 TNNI3 TNNT1
GH19G055215 1.5 ENCODE dbSUPER 11.1 -58.9 -58932 2.9 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 LENG8-AS1 U2AF2 ENSG00000235681 ENSG00000267523 ZNF580 NAT14 ZNF581 FIZ1 ENSG00000267096 ENSG00000267265
GH19G055382 1.4 ENCODE dbSUPER 10.8 -229.1 -229091 8.2 HDGF PKNOX1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 KLF13 RPL28 ZNF581 U2AF2 COX6B2 BRSK1 FAM71E2 SHISA7 ISOC2 ZNF628 ENSG00000239137
GH19G055091 1.3 Ensembl ENCODE 11.2 +64.5 64533 3.3 HDGF ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 EPS8L1 PPP1R12C LENG8-AS1 ENSG00000235681 ZNF580 RDH13 FIZ1 PRPF31 GP6 TNNI3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TNNI3 on UCSC Golden Path with GeneCards custom track

Promoters for TNNI3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111601 1232 201 HDAC1 SIN3A FEZF1 EGR1 EGR2 SP3 ELF4 TFDP1 SP1 NFIC
ENSR00000111601 1273 201 HDAC1 SIN3A FEZF1 EGR1 EGR2 SP3 ELF4 TFDP1 SP1 NFIC

Genomic Location for TNNI3 Gene

Chromosome:
19
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

Genes around TNNI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

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:
REFSEQ proteins:

No data available for DME Specific Peptides for TNNI3 Gene

Domains & Families for TNNI3 Gene

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

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,IEA 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

Human Phenotype Ontology for TNNI3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNI3 Gene

MGI Knock Outs for TNNI3:

Animal Model Products

miRNA for TNNI3 Gene

miRTarBase miRNAs that target TNNI3

Inhibitory RNA Products

Clone Products

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

Localization for TNNI3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNI3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TNNI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IEA,IDA 7957210
GO:0030016 myofibril IEA --
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 & Interactions for TNNI3 Gene

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

SIGNOR curated interactions for TNNI3 Gene

Is activated by:
Is inactivated by:
Other effect:

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,IEA --
GO:0003009 skeletal muscle contraction IBA --
GO:0006874 cellular calcium ion homeostasis IEA,ISS --
GO:0006937 regulation of muscle contraction IEA --
genes like me logo Genes that share ontologies with TNNI3: view

Drugs & Compounds for TNNI3 Gene

(3) Drugs for TNNI3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide Experimental Pharma Target 0
calcium Nutra 0

(2) Additional Compounds for TNNI3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TNNI3 Gene

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

This gene is overexpressed in Heart - Left Ventricle (x38.8) and Heart - Atrial Appendage (x13.2).

Protein differential expression in normal tissues from HIPED for TNNI3 Gene

This gene is overexpressed in Heart (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TNNI3 Gene



Protein tissue co-expression partners for TNNI3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TNNI3 Gene:

TNNI3

SOURCE GeneReport for Unigene cluster for TNNI3 Gene:

Hs.709179

Evidence on tissue expression from TISSUES for TNNI3 Gene

  • Heart(4.9)
  • Muscle(4.9)
  • Blood(3.1)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNI3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with TNNI3: view

Primer 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 34 35
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia TNNI3 35
  • 92 (a)
OneToOne
LOC511094 34
  • 88.57 (n)
dog
(Canis familiaris)
Mammalia TNNI3 34 35
  • 90.95 (n)
mouse
(Mus musculus)
Mammalia Tnni3 34 16 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Tnni3 34
  • 87.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TNNI3 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNNI3 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnni3 34
  • 71.52 (n)
zebrafish
(Danio rerio)
Actinopterygii tnni1al 35
  • 58 (a)
ManyToMany
tnni1c 35
  • 57 (a)
ManyToMany
zgc:112242 35
  • 56 (a)
ManyToMany
zgc:101560 35 35
  • 50 (a)
ManyToMany
si:dkey-206m15.8 35
  • 49 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17669 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11013 35
  • 45 (a)
OneToMany
Species where no ortholog for TNNI3 was found in the sources mined by GeneCards:
  • 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
rs104894724 Pathogenic, Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] 55,154,146(-) CCCTG(C/G/T)GGAGA reference, missense
rs104894725 Pathogenic, Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] 55,151,851(-) GCAAG(A/C/G)AAAAG reference, missense
rs104894727 Pathogenic, Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] 55,151,881(-) ACATC(A/G/T)ATGCA reference, missense
rs104894729 Pathogenic, Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] 55,151,892(-) CTGGC(A/C/G/T)CAAGA reference, missense
rs121917760 Pathogenic, Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] 55,154,148(-) CACCC(A/C/T)GCGGA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1820n106 CNV insertion 24896259
esv1785452 CNV insertion 17803354
esv2485681 CNV deletion 19546169
nsv1111177 CNV tandem duplication 24896259
nsv1147761 CNV insertion 26484159

Variation tolerance for TNNI3 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNNI3 Gene

Human Gene Mutation Database (HGMD)
TNNI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNI3

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

Disorders for TNNI3 Gene

MalaCards: The human disease database

(46) MalaCards diseases for TNNI3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 2a
  • dilated cardiomyopathy 2a
cardiomyopathy, hypertrophic, 7
  • hypertrophic cardiomyopathy 7
cardiomyopathy, familial restrictive, 1
  • cardiomyopathy, familial restrictive 1
cardiomyopathy, dilated, 1ff
  • dilated cardiomyopathy 1ff
restrictive cardiomyopathy
  • cardiomyopathy, constrictive
- elite association - COSMIC cancer census association via MalaCards
Search TNNI3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNNI3_HUMAN
  • 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.
  • 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, 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.

Relevant External Links for TNNI3

Genetic Association Database (GAD)
TNNI3
Human Genome Epidemiology (HuGE) Navigator
TNNI3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNNI3
genes like me logo Genes that share disorders with TNNI3: view

No data available for Genatlas for TNNI3 Gene

Publications for TNNI3 Gene

  1. 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 22 46 64
  2. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. (PMID: 9241277) Kimura A. … Sasazuki T. (Nat. Genet. 1997) 2 3 4 22 64
  3. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger R.E. … Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010) 3 22 46 64
  4. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. (PMID: 19590045) Carballo S. … Watkins H. (Circ. Res. 2009) 3 4 46 64
  5. 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 22 46 64

Products for TNNI3 Gene

Sources for TNNI3 Gene

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