Tnni2 troponin I, skeletal, fast 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tnni2provided by MGI
Official Full Name: troponin I, skeletal, fast 2provided by MGI
Primary source: MGI:MGI:105070
See related: Ensembl:ENSMUSG00000031097 AllianceGenome:MGI:105070
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable troponin T binding activity. Predicted to contribute to actin binding activity. Predicted to be involved in positive regulation of transcription, DNA-templated; regulation of muscle contraction; and striated muscle contraction. Predicted to be located in nucleus. Predicted to be part of troponin complex. Is expressed in several structures, including alimentary system; diaphragm; eyelid epithelium; hindlimb muscle; and integumental system. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita and distal arthrogryposis type 2B1. Orthologous to human TNNI2 (troponin I2, fast skeletal type). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 95.5), lung adult (RPKM 12.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 87.93 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (141995553..141998147)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (142441816..142444410)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our findings revealed a new function of tnni2 in the regulation of bone development, and the study of gain-of-function mutation in Tnni2 in transgenic mice opens a new avenue to understand the pathological mechanism of human DA2B disorder.
Title: A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC15822P1 (e-PCR)
- UniSTS:271434

REN115927 (e-PCR)
- UniSTS:440722

Tnni2 (e-PCR), detects polymorphism
- UniSTS:508571

J04992 (e-PCR)
- UniSTS:179681

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to actin binding	ISO Inferred from Sequence Orthology more info
enables troponin T binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of troponin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: troponin I, fast skeletal muscle

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.