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TNNI2 troponin I type 2 (skeletal, fast) [ Homo sapiens (human) ]

Gene ID: 7136, updated on 11-Sep-2014
Official Symbol
TNNI2provided by HGNC
Official Full Name
troponin I type 2 (skeletal, fast)provided by HGNC
Primary source
HGNC:HGNC:11946
See related
Ensembl:ENSG00000130598; HPRD:01843; MIM:191043; Vega:OTTHUMG00000012253
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; 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]
See TNNI2 in Epigenomics, MapViewer
Location:
11p15.5
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (1839003..1841680)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1860233..1862910)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene actin, beta pseudogene Neighboring gene synaptotagmin VIII Neighboring gene lymphocyte-specific protein 1 Neighboring gene microRNA 4298 Neighboring gene uncharacterized LOC102724536 Neighboring gene long intergenic non-protein coding RNA 1150

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Distal arthrogryposis type 2B
MedGen: C1834523 OMIM: 601680 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to actin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
troponin T binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
muscle filament sliding TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
troponin complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
troponin I, fast skeletal muscle
Names
troponin I, fast skeletal muscle
troponin I fast twitch 2
troponin I, skeletal, fast
troponin I, fast-twitch isoform
troponin I, fast-twitch skeletal muscle isoform

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 

    Range
    5001..7678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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)
    AW984315, BC032148, F36243
    Consensus CDS
    CCDS31333.1
    UniProtKB/Swiss-Prot
    P48788
    Related
    ENSP00000371331, OTTHUMP00000014141, ENST00000381906, OTTHUMT00000034046
    Conserved Domains (1) summary
    pfam00992
    Location:15131
    Troponin; Troponin
  2. NM_001145841.1NP_001139313.1  troponin I, fast skeletal muscle isoform 2

    See proteins identical to 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
    Related
    ENSP00000371330, OTTHUMP00000014143, ENST00000381905, OTTHUMT00000034048
    Conserved Domains (1) summary
    pfam00992
    Location:15131
    Troponin; Troponin
  3. NM_003282.3NP_003273.1  troponin I, fast skeletal muscle isoform 1

    See proteins identical to NP_003273.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).
    Source sequence(s)
    AW984315, BP233165, F36243, L21715
    Consensus CDS
    CCDS31333.1
    UniProtKB/Swiss-Prot
    P48788
    Related
    ENSP00000371336, OTTHUMP00000014142, ENST00000381911, OTTHUMT00000034047
    Conserved Domains (1) summary
    pfam00992
    Location:15131
    Troponin; Troponin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    1839003..1841680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    1651132..1653809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    1859040..1861717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)