Version: 8.0.0
Date: Tue Jan 28 2025
TNNI2
Homo sapiensHGNC:11946
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TNNI2

Species
Homo sapiens
Symbol
TNNI2
Name
troponin I2, fast skeletal type
Synonyms
  • AMCD2B
  • DA2B
Biotype
protein coding gene
Automated Description
Enables troponin T binding activity. Contributes to actin binding activity. Involved in positive regulation of DNA-templated transcription and skeletal muscle contraction. Located in nucleus. Part of troponin complex. Implicated in arthrogryposis multiplex congenita and distal arthrogryposis type 2B1.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13738
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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    Allele Synonyms
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    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TNNI2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            TNNI2 role
            TNNI2 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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