• Gene id: 7136

Gene Summary

• Gene Symbol: TNNI2   Gene   UCSC   Ensembl
• Aliases: AMCD2B, DA2B, DA2B1, FSSV, fsTnI
• Gene name: troponin I2, fast skeletal type
• Alternate names: troponin I, fast skeletal muscle, troponin I fast twitch 2, troponin I type 2 (skeletal, fast), troponin I, fast-twitch isoform, troponin I, fast-twitch skeletal muscle isoform, troponin I, skeletal, fast,
• Gene location: 11p15.5 (1838980: 1841677)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 604554

Protein Summary

• Protein general information: P48788  
  • Name: Troponin I, fast skeletal muscle (Troponin I, fast twitch isoform)
  • Length: 182  
  • Mass: 21339
• Sequence:

  MGDEEKRNRAITARRQHLKSVMLQIAATELEKEESRREAEKQNYLAEHCPPLHIPGSMSEVQELCKQLHAKIDAA
  EEEKYDMEVRVQKTSKELEDMNQKLFDLRGKFKRPPLRRVRMSADAMLKALLGSKHKVCMDLRANLKQVKKEDTE
  KERDLRDVGDWRKNIEEKSGMEGRKKMFESES

• Structural information:
  • Interpro: IPR001978  IPR038077  
  • PDB: 2MKP
  • PDBsum: 2MKP
  • STRING: ENSP00000371331
• Other Databases: GeneCards:  TNNI2  Malacards:  TNNI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005861	troponin complex	IBA	cellular component
GO:0003009	skeletal muscle contraction	IBA	biological process
GO:0006936	muscle contraction	IBA	biological process
GO:0060048	cardiac muscle contraction	IBA	biological process
GO:0005861	troponin complex	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0005861	troponin complex	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003009	skeletal muscle contraction	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005861	troponin complex	IDA	cellular component
GO:0003779	actin binding	IDA	contributes to
GO:0031014	troponin T binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Distal arthrogryposis	KEGG:H00811
Distal arthrogryposis	KEGG:H00811
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26361204
Embryo quality	MIK: 26361204

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray