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Aliases for TNNI2 Gene

Aliases for TNNI2 Gene

  • Troponin I2, Fast Skeletal Type 2 3 5
  • Troponin I, Fast-Twitch Skeletal Muscle Isoform 2 3
  • 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
  • Arthrogryposis Multiplex Congenita, Distal, Type 2B 2
  • Troponin I, Fast Skeletal Muscle 3
  • AMCD2B 3
  • FsTnI 3
  • DA2B 3
  • FSSV 3

External Ids for TNNI2 Gene

Previous HGNC Symbols for TNNI2 Gene

  • AMCD2B

Previous GeneCards Identifiers for TNNI2 Gene

  • GC11M000778
  • GC11M001963
  • GC11P001819
  • GC11P001825
  • GC11P001821
  • GC11P001824
  • GC11P001860
  • GC11P001651

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 I2, Fast Skeletal Type) is a Protein Coding gene. Diseases associated with TNNI2 include Arthrogryposis, Distal, Type 2B and Arthrogryposis Multiplex Congenita, Distal, Type 1. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNI2 Gene

Genomics for TNNI2 Gene

Regulatory Elements for TNNI2 Gene

Enhancers for TNNI2 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
GH11G001837 2 FANTOM5 Ensembl ENCODE dbSUPER 17.3 +2.9 2860 9.5 HDGF PKNOX1 MLX ARNT ARID4B DMAP1 YBX1 YY1 ZNF207 ZNF143 TNNI2 IFITM10 LSP1 LINC01219 C11orf21
GH11G001770 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -67.0 -67041 3.8 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A ZBTB7B GATA2 FOS KLF13 IFITM10 TNNI2 ENSG00000255142 SYT8 KRTAP5-6 LOC100505570 FAM99B LSP1 ENSG00000235027 TOLLIP
GH11G001780 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -56.7 -56695 3.4 HDAC1 PKNOX1 RAD21 TCF12 FOS EGR2 USF2 CEBPB MEF2D RAD51 LSP1 TNNI2 ENSG00000250397 SYT8 TOLLIP LOC105376517 RPL36AP39
GH11G001870 1.2 Ensembl ENCODE dbSUPER 11.7 +32.6 32553 2.3 RING1 YBX1 ZKSCAN1 ZFHX2 ZNF366 POLR2A TARDBP NBN FOXP2 EGR2 TNNT3 TNNI2 SYT8 LSP1 GC11P001865 MIR7847
GH11G001849 1.6 FANTOM5 ENCODE dbSUPER 8.6 +13.8 13816 6.3 HDGF SIN3A GLI4 GLIS2 ELK1 ZNF143 ZNF207 ZNF263 ZNF202 JUNB LSP1 TNNI2 TNNT3 H19 C11orf21 TSPAN32 IGF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TNNI2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNNI2 Gene

1,838,989 bp from pter
1,841,680 bp from pter
2,692 bases
Plus strand

Genomic View for TNNI2 Gene

Genes around TNNI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNI2 Gene

Proteins for TNNI2 Gene

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

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

    Protein attributes for TNNI2 Gene

    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


neXtProt entry for TNNI2 Gene

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 & Families for TNNI2 Gene

Gene Families for TNNI2 Gene

Protein Domains for TNNI2 Gene


Suggested Antigen Peptide Sequences for TNNI2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

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 IEA,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
genes like me logo Genes that share phenotypes with TNNI2: view

Human Phenotype Ontology for TNNI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNI2 Gene

MGI Knock Outs for TNNI2:

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

Localization for TNNI2 Gene

Subcellular locations from

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 TNNI2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
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,IEA 17194691
genes like me logo Genes that share ontologies with TNNI2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNI2 Gene

Pathways & Interactions for TNNI2 Gene

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

Pathways by source for TNNI2 Gene

1 BioSystems pathway 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
GO:0060048 cardiac muscle contraction IBA --
genes like me logo Genes that share ontologies with TNNI2: view

No data available for SIGNOR curated interactions for TNNI2 Gene

Drugs & Compounds for TNNI2 Gene

(2) Drugs for TNNI2 Gene - From: DGIdb and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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: -

Relevant External Links for TNNI2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TNNI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x49.0).

Protein differential expression in normal tissues from HIPED for TNNI2 Gene

This gene is overexpressed in Tonsil (34.0) and Esophagus (24.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TNNI2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TNNI2 Gene:


SOURCE GeneReport for Unigene cluster for TNNI2 Gene:


Evidence on tissue expression from TISSUES for TNNI2 Gene

  • Muscle(5)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNI2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TNNI2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TNNI2 Gene

Orthologs for TNNI2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNI2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TNNI2 34 35
  • 97.99 (n)
(Ornithorhynchus anatinus)
Mammalia TNNI2 35
  • 94 (a)
(Rattus norvegicus)
Mammalia Tnni2 34
  • 91.58 (n)
(Bos Taurus)
Mammalia TNNI2 34 35
  • 91.39 (n)
(Mus musculus)
Mammalia Tnni2 34 16 35
  • 91.21 (n)
(Canis familiaris)
Mammalia TNNI2 34 35
  • 90.11 (n)
(Gallus gallus)
Aves TNNI2 34 35
  • 78.52 (n)
(Anolis carolinensis)
Reptilia TNNI2 35
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tnni2 34
  • 71.79 (n)
Str.5547 34
(Danio rerio)
Actinopterygii tnni2a.1 34 35
  • 67.64 (n)
tnni2b.1 35
  • 60 (a)
tnni2a.4 35
  • 59 (a)
tnni2a.3 35
  • 57 (a)
tnni2a.2 35
  • 56 (a)
tnni2b.2 35
  • 56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11013 35
  • 39 (a)
Species where no ortholog for TNNI2 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)
  • 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

Gene Tree for TNNI2 (if available)
Gene Tree for TNNI2 (if available)

Paralogs for TNNI2 Gene

Paralogs for TNNI2 Gene

(2) 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
rs104894311 Pathogenic, Arthrogryposis, distal, 2B (DA2B) [MIM:601680] 1,841,523(+) GGGCC(A/G)GAAGA upstream-variant-2KB, reference, missense
rs104894312 Pathogenic 1,841,468(+) ACCTG(C/T)GAGAC upstream-variant-2KB, reference, stop-gained
rs199474800 Pathogenic 1,841,501(+) TCGAG(-/GAG)AAGTC upstream-variant-2KB, cds-indel
rs1057519093 Likely pathogenic 1,841,132(+) GCCCT(-/GCTGGGCTCGAA)GCACA upstream-variant-2KB, cds-indel
rs797046046 Likely pathogenic 1,841,527(+) CGGAA(G/T)AAGAT upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv29980 CNV loss 17803354
nsv1047474 CNV gain 25217958
nsv1112602 CNV deletion 24896259
nsv467645 CNV gain 19166990
nsv467647 CNV loss 19166990
nsv469926 CNV loss 18288195
nsv522320 CNV loss 19592680
nsv553047 CNV gain 21841781
nsv553050 CNV loss 21841781
nsv553052 CNV gain 21841781
nsv553053 CNV loss 21841781
nsv553054 CNV loss 21841781
nsv553055 CNV loss 21841781
nsv951281 CNV deletion 24416366

Variation tolerance for TNNI2 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNNI2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNI2 Gene

Disorders for TNNI2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TNNI2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 2b
  • arthrogryposis multiplex congenita, distal, type 2b
arthrogryposis multiplex congenita, distal, type 1
  • distal arthrogryposis type 1
tnni2-related arthrogryposis multiplex congenita, distal, type 2b
distal arthrogryposis
  • arthrogryposis, distal, type 2b
atrophy of testis
- elite association - COSMIC cancer census association via MalaCards
Search TNNI2 in MalaCards View complete list of genes associated with diseases


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TNNI2: view

No data available for Genatlas for TNNI2 Gene

Publications for TNNI2 Gene

  1. 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 64
  2. 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 22 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. 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 22 64
  5. 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 64

Products for TNNI2 Gene

Sources for TNNI2 Gene

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