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

    Gene ID: 7136, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001145829.2NP_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:15145
      Troponin
    2. NM_001145841.2NP_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:15145
      Troponin
    3. NM_003282.4NP_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:15145
      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)