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

    Gene ID: 7136, updated on 2-Nov-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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    See TNNI2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1838981..1841678)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1924780..1927477)
    RS_2024_09 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 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. Sequencing of a cDNA encoding the human fast-twitch skeletal muscle isoform of troponin I. Zhu L, et al. Biochim Biophys Acta, 1994 Apr 6. PMID 8148383
    3. Troponin I is present in human cartilage and inhibits angiogenesis. Moses MA, et al. Proc Natl Acad Sci U S A, 1999 Mar 16. PMID 10077564, Free PMC Article
    4. Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). Mullen AJ, et al. Gene, 2000 Jan 25. PMID 10721725
    5. Characteristics of the human ocular surface epithelium. Kinoshita S, et al. Prog Retin Eye Res, 2001 Sep. PMID 11470454

    See all (50) 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
    		Compare labs

    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
      UniProtKB/TrEMBL
      A0AAG2TUI5
      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/TrEMBL
      A0AAG2TUI5
      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
      UniProtKB/TrEMBL
      A0AAG2TUI5
      Related
      ENSP00000371336.1, ENST00000381911.6
      Conserved Domains (1) summary
      pfam00992
      Location:15 → 145
      Troponin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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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