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Aliases for TNNI3K Gene

Aliases for TNNI3K Gene

  • TNNI3 Interacting Kinase 2 3 5
  • Cardiac Troponin I-Interacting Kinase 3 4
  • Cardiac Ankyrin Repeat Kinase 3 4
  • CARK 3 4
  • Serine/Threonine-Protein Kinase TNNI3K 3
  • TNNI3-Interacting Kinase 4
  • EC 2.7.11.1 4
  • CCDD 3

External Ids for TNNI3K Gene

Previous GeneCards Identifiers for TNNI3K Gene

  • GC01P074071
  • GC01P074413
  • GC01P074664
  • GC01P074666
  • GC01P074669
  • GC01P074673

Summaries for TNNI3K Gene

Entrez Gene Summary for TNNI3K Gene

  • This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]

GeneCards Summary for TNNI3K Gene

TNNI3K (TNNI3 Interacting Kinase) is a Protein Coding gene. Diseases associated with TNNI3K include Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy and Dilated Cardiomyopathy. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is FPGT-TNNI3K.

UniProtKB/Swiss-Prot for TNNI3K Gene

  • May play a role in cardiac physiology.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNI3K Gene

Genomics for TNNI3K Gene

Regulatory Elements for TNNI3K Gene

Enhancers for TNNI3K 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
GH01F074390 0.3 FANTOM5 7.6 +155.7 155696 0.3 TNNI3K ENSG00000237324 LOC105378805
GH01F073979 0.2 ENCODE 5.6 -255.5 -255460 0.5 LRRIQ3 TNNI3K GC01P074005 PIR50843
GH01F074521 0.5 ENCODE 4.9 +286.9 286909 0.7 SMARCA4 POLR2A TEAD4 TNNI3K LRRC53 LOC105378805
GH01F074246 0.5 ENCODE 0.4 +10.0 9985 0.2 CTBP1 BCL11A TEAD4 TCF7L2 TNNI3K ENSG00000237324
GH01F074245 0.2 ENCODE 0.4 +10.5 10462 0.2 TNNI3K ENSG00000237324
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TNNI3K on UCSC Golden Path with GeneCards custom track

Genomic Location for TNNI3K Gene

Chromosome:
1
Start:
74,235,387 bp from pter
End:
74,544,432 bp from pter
Size:
309,046 bases
Orientation:
Plus strand

Genomic View for TNNI3K Gene

Genes around TNNI3K on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNI3K Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNI3K Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNI3K Gene

Proteins for TNNI3K Gene

  • Protein details for TNNI3K Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q59H18-TNI3K_HUMAN
    Recommended name:
    Serine/threonine-protein kinase TNNI3K
    Protein Accession:
    Q59H18
    Secondary Accessions:
    • Q17RN0
    • Q49AR1
    • Q6MZS9
    • Q9Y2V6

    Protein attributes for TNNI3K Gene

    Size:
    835 amino acids
    Molecular mass:
    92851 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with TNNI3, ACTC, ACTA1, MYBPC3, AIP, BABP3 and HADHB.
    SequenceCaution:
    • Sequence=BAD92178.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAE45949.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNNI3K Gene

    Alternative splice isoforms for TNNI3K Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNNI3K Gene

Post-translational modifications for TNNI3K Gene

Other Protein References for TNNI3K Gene

Antibody Products

  • Abcam antibodies for TNNI3K
  • Santa Cruz Biotechnology (SCBT) Antibodies for TNNI3K

No data available for DME Specific Peptides for TNNI3K Gene

Domains & Families for TNNI3K Gene

Gene Families for TNNI3K Gene

Suggested Antigen Peptide Sequences for TNNI3K Gene

Graphical View of Domain Structure for InterPro Entry

Q59H18

UniProtKB/Swiss-Prot:

TNI3K_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
  • Contains 10 ANK repeats.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
Similarity:
  • Contains 10 ANK repeats.
genes like me logo Genes that share domains with TNNI3K: view

Function for TNNI3K Gene

Molecular function for TNNI3K Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
May play a role in cardiac physiology.

Enzyme Numbers (IUBMB) for TNNI3K Gene

Gene Ontology (GO) - Molecular Function for TNNI3K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA,IDA 12721663
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004871 signal transducer activity IBA --
GO:0005515 protein binding IPI 12721663
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TNNI3K: view
genes like me logo Genes that share phenotypes with TNNI3K: view

Human Phenotype Ontology for TNNI3K Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TNNI3K

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TNNI3K Gene

Localization for TNNI3K Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNNI3K Gene

Nucleus. Cytoplasm. Note=Expressed at lower levels in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNNI3K Gene COMPARTMENTS Subcellular localization image for TNNI3K gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TNNI3K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12721663
GO:0005737 cytoplasm IEA,IDA 12721663
genes like me logo Genes that share ontologies with TNNI3K: view

Pathways & Interactions for TNNI3K Gene

SuperPathways for TNNI3K Gene

No Data Available

Interacting Proteins for TNNI3K Gene

Gene Ontology (GO) - Biological Process for TNNI3K Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 24925317
GO:0006468 protein phosphorylation IEA,IDA 12721663
GO:0016310 phosphorylation IEA --
GO:0035556 intracellular signal transduction IBA --
GO:0055117 regulation of cardiac muscle contraction IMP 24925317
genes like me logo Genes that share ontologies with TNNI3K: view

No data available for Pathways by source and SIGNOR curated interactions for TNNI3K Gene

Drugs & Compounds for TNNI3K Gene

(1) Drugs for TNNI3K Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0
genes like me logo Genes that share compounds with TNNI3K: view

Transcripts for TNNI3K Gene

Unigene Clusters for TNNI3K Gene

TNNI3 interacting kinase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNNI3K Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c
SP1: - -
SP2: - - - - - - - -
SP3: - - -
SP4: - -
SP5: -
SP6: - - - - - - - -
SP7: - -

Relevant External Links for TNNI3K Gene

GeneLoc Exon Structure for
TNNI3K
ECgene alternative splicing isoforms for
TNNI3K

Expression for TNNI3K Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNNI3K Gene

mRNA differential expression in normal tissues according to GTEx for TNNI3K Gene

This gene is overexpressed in Heart - Left Ventricle (x9.0), Brain - Cerebellar Hemisphere (x7.0), Brain - Cerebellum (x7.0), and Heart - Atrial Appendage (x4.8).

Protein differential expression in normal tissues from HIPED for TNNI3K Gene

This gene is overexpressed in Bone (34.4) and Heart (32.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TNNI3K Gene



Protein tissue co-expression partners for TNNI3K Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TNNI3K Gene:

TNNI3K

SOURCE GeneReport for Unigene cluster for TNNI3K Gene:

Hs.480085

mRNA Expression by UniProt/SwissProt for TNNI3K Gene:

Q59H18-TNI3K_HUMAN
Tissue specificity: Highly expressed in both adult and fetal heart.
genes like me logo Genes that share expression patterns with TNNI3K: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TNNI3K Gene

Orthologs for TNNI3K Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TNNI3K Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNI3K 34 35
  • 99.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
ManyToMany
-- 35
  • 14 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia TNNI3K 34 35
  • 92.61 (n)
dog
(Canis familiaris)
Mammalia TNNI3K 34 35
  • 91.61 (n)
oppossum
(Monodelphis domestica)
Mammalia TNNI3K 35
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tnni3k 34 16 35
  • 85.13 (n)
rat
(Rattus norvegicus)
Mammalia Tnni3k 34
  • 84.71 (n)
chicken
(Gallus gallus)
Aves TNNI3K 34 35
  • 81.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tnni3k 34
  • 78.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30019 34
zebrafish
(Danio rerio)
Actinopterygii tnni3k 34 35
  • 74.13 (n)
worm
(Caenorhabditis elegans)
Secernentea C24A1.3 34 35
  • 54.08 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VIK 34
  • 47.47 (n)
Species where no ortholog for TNNI3K was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TNNI3K Gene

ENSEMBL:
Gene Tree for TNNI3K (if available)
TreeFam:
Gene Tree for TNNI3K (if available)

Paralogs for TNNI3K Gene

Variants for TNNI3K Gene

Sequence variations from dbSNP and Humsavar for TNNI3K Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs201613442 A head & Neck squamous cell carcinoma sample 74,540,276(+) GAGAT(A/G)AAAAG upstream-variant-2KB, reference, missense
rs606231469 Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) [MIM:616117], Pathogenic 74,369,495(+) TGTGG(A/G)TGCTT reference, missense
VAR_035639 A colorectal cancer sample
VAR_041226 A colorectal adenocarcinoma sample
rs1011542 -- 74,393,203(+) CAGAT(A/C)ATTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TNNI3K Gene

Variant ID Type Subtype PubMed ID
dgv110n106 CNV deletion 24896259
esv1000471 CNV deletion 20482838
esv1327381 CNV deletion 17803354
esv1932816 CNV deletion 18987734
esv2350476 CNV deletion 18987734
esv2549117 CNV deletion 19546169
esv2660597 CNV deletion 23128226
esv2749941 CNV deletion 23290073
esv2749952 CNV deletion 23290073
esv2749963 CNV deletion 23290073
esv2994845 CNV deletion 24192839
esv3310253 CNV mobile element insertion 20981092
esv3379315 CNV insertion 20981092
esv3564159 CNV deletion 23714750
esv3564181 CNV deletion 23714750
esv3586456 CNV loss 21293372
esv3586457 CNV loss 21293372
esv3586458 CNV loss 21293372
esv3893723 CNV gain 25118596
esv4202 CNV loss 18987735
esv6294 CNV gain 19470904
nsv1002115 CNV gain 25217958
nsv1003356 CNV loss 25217958
nsv1010042 CNV gain 25217958
nsv1078517 CNV deletion 25765185
nsv1142061 CNV tandem duplication 24896259
nsv1153966 CNV deletion 26484159
nsv461984 CNV loss 19166990
nsv522147 CNV loss 19592680
nsv523474 CNV loss 19592680
nsv525557 CNV loss 19592680
nsv546575 CNV loss 21841781
nsv546576 CNV loss 21841781
nsv546577 CNV loss 21841781
nsv820047 CNV loss 19587683
nsv830248 CNV loss 17160897
nsv954539 CNV deletion 24416366

Variation tolerance for TNNI3K Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNNI3K Gene

Human Gene Mutation Database (HGMD)
TNNI3K
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNI3K

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNI3K Gene

Disorders for TNNI3K Gene

MalaCards: The human disease database

(4) MalaCards diseases for TNNI3K Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiac conduction disease with or without dilated cardiomyopathy
  • familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease
dilated cardiomyopathy
  • congestive cardiomyopathy
cardiomyopathy
  • cardiomyopathies
familial atrial fibrillation
  • atrial fibrillation, familial, 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNI3K_HUMAN
  • Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) [MIM:616117]: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. {ECO:0000269 PubMed:24925317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNNI3K

Genetic Association Database (GAD)
TNNI3K
Human Genome Epidemiology (HuGE) Navigator
TNNI3K
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNNI3K
genes like me logo Genes that share disorders with TNNI3K: view

No data available for Genatlas for TNNI3K Gene

Publications for TNNI3K Gene

  1. Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I. (PMID: 12721663) Zhao Y. … Ding J.-F. (J. Mol. Med. 2003) 2 3 4 64
  2. TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. (PMID: 24925317) Theis J.L. … Olson T.M. (Hum. Mol. Genet. 2014) 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes E.K. … Loos R.J. (Nat. Genet. 2010) 3 46 64
  5. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PMID: 20808825) Chen X. … Kong X. (PLoS ONE 2010) 3 46 64

Products for TNNI3K Gene

Sources for TNNI3K Gene

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