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

Gene ID: 7136, updated on 6-Sep-2021

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
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
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Genomic context

See TNNI2 in Genome Data Viewer
Location:
11p15.5
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1838981..1841678)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1860211..1862908)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene actin beta pseudogene Neighboring gene synaptotagmin 8 Neighboring gene uncharacterized LOC107984299 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Distal arthrogryposis type 2B
MedGen: C5193014 OMIM: 601680 GeneReviews: Not available
Compare labs
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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_001145829.2NP_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
    P48788
    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/Swiss-Prot
    P48788
    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
    P48788
    Related
    ENSP00000371336.1, ENST00000381911.6
    Conserved Domains (1) summary
    pfam00992
    Location:15145
    Troponin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p13 PATCHES

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