TNNI2 (troponin I2, fast skeletal type)

Gene

• Entrez ID: 7136
• Gene name: Troponin I2, fast skeletal type
• Gene symbol: TNNI2
• Synonyms (NCBI Gene): AMCD2B, DA2B, DA2B1, FSSV, fsTnI
• Chromosome: 11
• Chromosome location: 11p15.5
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IDA	17194691
GO:0003779	Function	Actin binding	IDA	17194691
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	18331830, 24333682, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	18331830
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	17194691
GO:0005861	Component	Troponin complex	IEA
GO:0031014	Function	Troponin T binding	IPI	17194691
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18331830
GO:0060048	Process	Cardiac muscle contraction	IBA

Other IDs

• MIM: 191043
• HGNC: 11946
• e!Ensembl: ENSG00000130598

Protein

• UniProt ID: P48788
• Protein name: Troponin I, fast skeletal muscle (Troponin I, fast-twitch isoform)
• Protein function: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
• PDB: 2MKP, 7KAA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00992	Troponin	15 → 145	Troponin	Family

• Sequence:

  MGDEEKRNRAITARRQHLKSVMLQIAATELEKEESRREAEKQNYLAEHCPPLHIPGSMSE
  VQELCKQLHAKIDAAEEEKYDMEVRVQKTSKELEDMNQKLFDLRGKFKRPPLRRVRMSAD
  AMLKALLGSKHKVCMDLRANLKQVKKEDTEKERDLRDVGDWRKNIEEKSGMEGRKKMFES
  ES

• Sequence length: 182

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Calcaneovalgus deformity	Pathogenic	rs104894312	RCV000415208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital finger flexion contractures	Pathogenic	rs104894312	RCV000415208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal arthrogryposis	Pathogenic	rs104894312	RCV000415208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal arthrogryposis type 2B1	Likely pathogenic; Pathogenic	rs1589797083, rs797046046, rs2493967214, rs1847181948, rs104894311, rs104894312, rs199474801, rs199474800, rs2493967150, rs1589797063	RCV001809112 RCV000193314 RCV003131744 RCV003234952 RCV000013248 RCV000013249 RCV000013250 RCV000013252 RCV003988979 RCV000855524	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TNNI2-related disorder	Likely pathogenic; Pathogenic	rs199474801	RCV004757105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ulnar deviation of the wrist	Pathogenic	rs104894312	RCV000415208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Arthrogryposis multiplex congenita	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arthrogryposis multiplex congenita distal	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITOTALAR DYSMORPHISM	—	ClinVar, Disgenet ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS TYPE 2B	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHELDON-HALL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	15704180		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	LHGDN	16802141		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	23850728		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	BEFREE	19142688, 23850728, 26374086, 9012416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	Distal arthrogryposis	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	UNIPROT_DG	12592607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	BEFREE	16497570, 17380469, 19142688, 21402185, 25340332, 29625835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	GENOMICS_ENGLAND_DG	23850728, 25087613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	21834041	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	31746383		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital finger flexion contractures	Congenital finger flexion contractures	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Contracture	Contracture	Pubtator	21834041	Associate	★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Digitotalar Dysmorphism	Digitotalar Dysmorphism	ORPHANET_DG	23401156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	16497570, 16802141, 16924011, 17339586, 19142688, 23401156, 27381093, 29625835, 30285720, 31746383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 1	Distal arthrogryposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	19142688, 21402185, 23850728, 9012416		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36701711	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29663169		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33683712	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31195249		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	16924011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	CTD_human_DG	19628585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33450964	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sheldon-Hall syndrome	Sheldon-Hall Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	27381093		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29663169		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only