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TNNI2 troponin I2, fast skeletal type [ Homo sapiens (human) ]

Gene ID: 7136, updated on 5-Mar-2024

Summary

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Official Symbol
TNNI2provided by HGNC
Official Full Name
troponin I2, fast skeletal typeprovided by HGNC
Primary source
HGNC:HGNC:11946
See related
Ensembl:ENSG00000130598 MIM:191043; AllianceGenome:HGNC:11946
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DA2B; FSSV; DA2B1; fsTnI; AMCD2B
Summary
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]
Expression
Biased expression in esophagus (RPKM 41.2), prostate (RPKM 27.4) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11p15.5
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1838981..1841678)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1924780..1927477)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1860211..1862908)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902610 Neighboring gene actin beta pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1844971-1845472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1854181-1854796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1854797-1855410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3063 Neighboring gene uncharacterized LOC107984299 Neighboring gene synaptotagmin 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1870712-1871698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4293 Neighboring gene lymphocyte specific protein 1 Neighboring gene microRNA 4298

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family. Li Y, et al. Mol Genet Genomic Med, 2022 Dec. PMID 36069346, Free PMC Article
  2. Troponin I2 as a Specific Biomarker for Prediction of Peritoneal Metastasis in Gastric Cancer. Sawaki K, et al. Ann Surg Oncol, 2018 Jul. PMID 29663169
  3. A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. Wang B, et al. Am J Med Genet A, 2016 Jan. PMID 26374086
  4. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. Li X, et al. Gene, 2013 Sep 25. PMID 23850728
  5. Expression of the human fast-twitch skeletal muscle troponin I cDNA in a human ovarian carcinoma suppresses tumor growth. Xiong G, et al. Sci China C Life Sci, 2007 Feb. PMID 17393089

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
    Title: Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
  2. A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.
    Title: A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.
  3. Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
    Title: Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
  4. High TNNI2 expression is associated with Peritoneal Metastasis in Gastric Cancer.
    Title: Troponin I2 as a Specific Biomarker for Prediction of Peritoneal Metastasis in Gastric Cancer.
  5. Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca(2+) -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension.
    Title: Genotype-specific pathogenic effects in human dilated cardiomyopathy.
  6. TNNI2 gene missense mutation is associated with distal arthrogryposis type 1.
    Title: A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
  7. report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism
    Title: A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
  8. Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis.
    Title: Distal arthrogryposis: clinical and genetic findings.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Distal arthrogryposis type 2B1
MedGen: C5193014 OMIM: 601680 GeneReviews: Not available
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EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables troponin T binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in relaxation of skeletal muscle IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in skeletal muscle contraction IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of troponin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of troponin complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
troponin I, fast skeletal muscle
Names
troponin I fast twitch 2
troponin I type 2 (skeletal, fast)
troponin I, skeletal, fast

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.

Genomic

  1. NG_011621.1 RefSeqGene

    Range
    4979..7676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_851

mRNA and Protein(s)

  1. NM_001145829.2 → NP_001139301.1  troponin I, fast skeletal muscle isoform 1

    See identical proteins and their annotated locations for NP_001139301.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, and encodes the same isoform 1, as compared to variant 1.
    Source sequence(s)
    AC051649, AW984315, BC032148
    Consensus CDS
    CCDS31333.1
    UniProtKB/Swiss-Prot
    A6NIV8, A6NJU5, P48788
    Related
    ENSP00000371331.1, ENST00000381906.5
    Conserved Domains (1) summary
    pfam00992
    Location:15 → 145
    Troponin

  2. NM_001145841.2 → NP_001139313.1  troponin I, fast skeletal muscle isoform 2

    See identical proteins and their annotated locations for NP_001139313.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a few of 5' exons, but has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) is the same size but has a different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AW984315, BI833431, F36243
    Consensus CDS
    CCDS53594.1
    UniProtKB/Swiss-Prot
    P48788
    Related
    ENSP00000371330.3, ENST00000381905.3
    Conserved Domains (1) summary
    pfam00992
    Location:15 → 145
    Troponin

  3. NM_003282.4 → NP_003273.1  troponin I, fast skeletal muscle isoform 1

    See identical proteins and their annotated locations for NP_003273.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC051649, AW984315, BP233165, F36243, L21715
    Consensus CDS
    CCDS31333.1
    UniProtKB/Swiss-Prot
    A6NIV8, A6NJU5, P48788
    Related
    ENSP00000371336.1, ENST00000381911.6
    Conserved Domains (1) summary
    pfam00992
    Location:15 → 145
    Troponin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    1838981..1841678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p14 PATCHES

    Range
    29484..32181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1924780..1927477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48788.2 GenPept UniProtKB/Swiss-Prot:P48788

Gene LinkOut

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