Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TNNI2 Gene

Aliases for TNNI2 Gene

  • Troponin I Type 2 (Skeletal, Fast) 2 3
  • Troponin I, Fast-Twitch Isoform 3 4
  • Troponin I, Skeletal, Fast 2 3
  • Troponin I Fast Twitch 2 2 3
  • AMCD2B 3 6
  • DA2B 3 6
  • FSSV 3 6
  • Arthrogryposis Multiplex Congenita, Distal, Type 2B 2
  • Troponin I, Fast-Twitch Skeletal Muscle Isoform 3
  • Fast-Twitch Skeletal Muscle Isoform 2
  • Troponin I, Fast Skeletal Muscle 3
  • Troponin I 2
  • FsTnI 3

External Ids for TNNI2 Gene

Previous Symbols for TNNI2 Gene

  • AMCD2B

Summaries for TNNI2 Gene

Entrez Gene Summary for TNNI2 Gene

  • This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for TNNI2 Gene

TNNI2 (Troponin I Type 2 (Skeletal, Fast)) is a Protein Coding gene. Diseases associated with TNNI2 include atrophy of testis and distal arthrogryposis. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include actin binding and troponin T binding. An important paralog of this gene is TNNI1.

UniProtKB/Swiss-Prot for TNNI2 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 TNNI2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNI2 Gene

Genomics for TNNI2 Gene

Genomic Location for TNNI2 Gene

Start:
1,838,989 bp from pter
End:
1,841,680 bp from pter
Size:
2,692 bases
Orientation:
Plus strand

Genomic View for TNNI2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNNI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNI2 Gene

Regulatory Elements for TNNI2 Gene

Proteins for TNNI2 Gene

  • Protein details for TNNI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48788-TNNI2_HUMAN
    Recommended name:
    Troponin I, fast skeletal muscle
    Protein Accession:
    P48788
    Secondary Accessions:
    • A6NIV8
    • A6NJU5

    Protein attributes for TNNI2 Gene

    Size:
    182 amino acids
    Molecular mass:
    21339 Da
    Quaternary structure:
    • Binds to actin and tropomyosin

    Three dimensional structures from OCA and Proteopedia for TNNI2 Gene

    Alternative splice isoforms for TNNI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNNI2 Gene

Proteomics data for TNNI2 Gene at MOPED

Post-translational modifications for TNNI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNI2 Gene

No data available for DME Specific Peptides for TNNI2 Gene

Domains for TNNI2 Gene

Protein Domains for TNNI2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TNNI2_HUMAN
Family:
  • Belongs to the troponin I family.:
    • P48788
genes like me logo Genes that share domains with TNNI2: view

No data available for Gene Families for TNNI2 Gene

Function for TNNI2 Gene

Molecular function for TNNI2 Gene

GENATLAS Biochemistry: troponin I2,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,fast twitch skeletal muscle,organized in pair with TNNT3,tightly linked to TNNT2 and ELF3
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 TNNI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 contributes_to actin binding IDA 17194691
GO:0005515 protein binding IPI 18331830
GO:0031014 troponin T binding IPI 17194691
genes like me logo Genes that share ontologies with TNNI2: view

Phenotypes for TNNI2 Gene

GenomeRNAi human phenotypes for TNNI2:
genes like me logo Genes that share phenotypes with TNNI2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TNNI2 Gene

Localization for TNNI2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNNI2 Gene COMPARTMENTS Subcellular localization image for TNNI2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TNNI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18331830
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA 17194691
genes like me logo Genes that share ontologies with TNNI2: view

Pathways for TNNI2 Gene

genes like me logo Genes that share pathways with TNNI2: view

Pathways by source for TNNI2 Gene

2 Reactome pathways for TNNI2 Gene

Gene Ontology (GO) - Biological Process for TNNI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IDA 17194691
GO:0006937 regulation of muscle contraction IEA --
GO:0030049 muscle filament sliding TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 18331830
genes like me logo Genes that share ontologies with TNNI2: view

Compounds for TNNI2 Gene

(1) HMDB Compounds for TNNI2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with TNNI2: view

Transcripts for TNNI2 Gene

mRNA/cDNA for TNNI2 Gene

Unigene Clusters for TNNI2 Gene

Troponin I type 2 (skeletal, fast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TNNI2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for TNNI2 Gene

GeneLoc Exon Structure for
TNNI2
ECgene alternative splicing isoforms for
TNNI2

Expression for TNNI2 Gene

mRNA expression in normal human tissues for TNNI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNI2 Gene

This gene is overexpressed in Muscle - Skeletal (49.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TNNI2 Gene

SOURCE GeneReport for Unigene cluster for TNNI2 Gene Hs.523403

genes like me logo Genes that share expressions with TNNI2: view

Orthologs for TNNI2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNI2 36
  • 97.99 (n)
  • 97.8 (a)
TNNI2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNI2 36
  • 91.39 (n)
  • 95.05 (a)
TNNI2 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNNI2 36
  • 90.11 (n)
  • 96.15 (a)
TNNI2 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnni2 36
  • 91.21 (n)
  • 96.7 (a)
Tnni2 16
Tnni2 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNNI2 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnni2 36
  • 91.58 (n)
  • 97.8 (a)
chicken
(Gallus gallus)
Aves TNNI2 36
  • 78.52 (n)
  • 82.22 (a)
TNNI2 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNNI2 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5547 36
tnni2 36
  • 71.79 (n)
  • 71.98 (a)
zebrafish
(Danio rerio)
Actinopterygii tnni2a.1 36
  • 67.64 (n)
  • 63.16 (a)
tnni2a.1 37
  • 61 (a)
OneToMany
tnni2a.2 37
  • 56 (a)
OneToMany
tnni2a.3 37
  • 57 (a)
OneToMany
tnni2a.4 37
  • 59 (a)
OneToMany
tnni2b.1 37
  • 60 (a)
OneToMany
tnni2b.2 37
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11013 37
  • 39 (a)
OneToMany
Species with no ortholog for TNNI2:
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 TNNI2 Gene

ENSEMBL:
Gene Tree for TNNI2 (if available)
TreeFam:
Gene Tree for TNNI2 (if available)

Paralogs for TNNI2 Gene

Paralogs for TNNI2 Gene

Selected SIMAP similar genes for TNNI2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TNNI2: view

Variants for TNNI2 Gene

Sequence variations from dbSNP and Humsavar for TNNI2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs907610 other 1,840,530(+) CAGAG(A/C/G/T)GTGAT synonymous-codon, reference
rs1877444 untested 1,839,995(+) ACCCA(A/C)CCACC intron-variant, upstream-variant-2KB
rs2271441 untested 1,840,682(+) ACCCC(A/G)CCTCC intron-variant
rs2271442 -- 1,840,938(+) GCAGG(C/T)GGGTA intron-variant
rs2271443 -- 1,840,958(+) CCAGC(A/G)GGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TNNI2 Gene

Variant ID Type Subtype PubMed ID
nsv896727 CNV Gain 21882294
nsv896728 CNV Gain 21882294
nsv896731 CNV Loss 21882294
nsv467645 CNV Gain 19166990
nsv469926 CNV Loss 18288195
nsv896737 CNV Loss 21882294
dgv983n71 CNV Loss 21882294
esv29980 CNV Loss 17803354
nsv896739 CNV Loss 21882294
dgv984n71 CNV Loss 21882294
dgv985n71 CNV Loss 21882294
nsv896744 CNV Loss 21882294
nsv896746 CNV Loss 21882294
nsv522320 CNV Loss 19592680
nsv467647 CNV Loss 19166990
dgv986n71 CNV Loss 21882294

Relevant External Links for TNNI2 Gene

HapMap Linkage Disequilibrium report
TNNI2
Human Gene Mutation Database (HGMD)
TNNI2
Locus Specific Mutation Databases (LSDB)
TNNI2

Disorders for TNNI2 Gene

(1) OMIM Diseases for TNNI2 Gene (191043)

UniProtKB/Swiss-Prot

TNNI2_HUMAN
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269 PubMed:12592607}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNNI2

Genetic Association Database (GAD)
TNNI2
Human Genome Epidemiology (HuGE) Navigator
TNNI2
genes like me logo Genes that share disorders with TNNI2: view

Publications for TNNI2 Gene

  1. Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). (PMID: 10721725) Mullen A.J. … Barton P.J.R. (Gene 2000) 3 4 23
  2. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (PMID: 12592607) Sung S.S. … Bamshad M. (Am. J. Hum. Genet. 2003) 2 3 4
  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 49
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. (PMID: 16802141) Jiang M. … Li J. (Hum. Genet. 2006) 3 23

Products for TNNI2 Gene

Sources for TNNI2 Gene

Back to Top

Content